Cerebral Palsy (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 365 Entitiess
Green Green List (high evidence)	ACADM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Baraitser-Winter syndrome 1 MIM#243310 Tags
Green Green List (high evidence)	ADAR	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ADAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM# 615286 Tags
Green Green List (high evidence)	ADCY5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dyskinesia with orofacial involvement MIM#606703 Tags
Green Green List (high evidence)	ADD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Cerebral palsy, spastic quadriplegic, 3 617008 Tags
Green Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Helsmoortel-van der Aa syndrome MIM#615873 Tags
Green Green List (high evidence)	AFG2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags new gene name
Green Green List (high evidence)	AFG2B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green Green List (high evidence)	AHDC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Xia-Gibbs syndrome, MIM#615829 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Sjogren-Larsson syndrome, MIM# 270200 Tags
Green Green List (high evidence)	ALS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations ALS2-related motor neuron disease, MONDO:0100227 Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Pontocerebellar hypoplasia, type 9, MIM# 615809 Tags
Green Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 51, autosomal recessive, MIM# 613744 Tags
Green Green List (high evidence)	AP4M1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Green Green List (high evidence)	AP4S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 52, autosomal recessive, MIM# 614067 Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Argininemia MIM#207800 Tags
Green Green List (high evidence)	ARID2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Coffin-Siris syndrome, MIM#617808 Tags
Green Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Disease associations Developmental and epileptic encephalopathy 1, MIM# 308350 Lissencephaly, X-linked 2, MIM# 300215 Proud syndrome, MIM# 300004 Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Disease associations Bohring-Opitz syndrome (MIM 605039) Tags
Green Green List (high evidence)	ASXL3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Bainbridge-Ropers syndrome, MIM# 615485 Tags
Green Green List (high evidence)	ATL1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cerebral palsy Spastic paraplegia 3A, autosomal dominant (OMIM 182600 ) Tags
Green Green List (high evidence)	ATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ataxia-telangiectasia, MIM#208900 Tags
Green Green List (high evidence)	ATP1A3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Menkes disease MIM#3094009 Tags
Green Green List (high evidence)	ATP8A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome, MIM#615268 Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Disease associations ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	AUTS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Green Green List (high evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Disease associations Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCL11A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Dias-Logan syndrome, MIM# 617101 Tags
Green Green List (high evidence)	CACNA1A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Developemental and epileptic encephalopathy 42, MIM# 617106 Episodic ataxia, type 2, MIM# 108500 Spinocerebellar ataxia 6, MIM# 183086 Tags
Green Green List (high evidence)	CACNA1G	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green Green List (high evidence)	CAMTA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cerebellar ataxia, nonprogressive, with mental retardation, MIM# 614756 Tags SV/CNV
Green Green List (high evidence)	CASK	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Tags
Green Green List (high evidence)	CHD8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with autism and macrocephaly #615032 Tags
Green Green List (high evidence)	CLTC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder MIM#617854 Tags
Green Green List (high evidence)	COL4A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519 Brain small vessel disease MIM#614483 Tags
Green Green List (high evidence)	COL4A2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Brain small vessel disease 2 MIM# 614483 Tags
Green Green List (high evidence)	CREBBP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849 Tags
Green Green List (high evidence)	CSMD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations MIM#618174 Tags
Green Green List (high evidence)	CTNNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 Tags
Green Green List (high evidence)	CYP2U1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Spastic paraplegia 56, autosomal recessive MIM# 615030 Tags
Green Green List (high evidence)	DDC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Aromatic L-amino acid decarboxylase deficiency MIM# 608643 Tags
Green Green List (high evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Spastic paraplegia 54, autosomal recessive MIM# 615033 Tags
Green Green List (high evidence)	DDX3X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Adams-Oliver syndrome 2 MIM#614219 Tags
Green Green List (high evidence)	DYNC1H1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex MIM#614563 Tags
Green Green List (high evidence)	DYRK1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder MIM#614104 Tags
Green Green List (high evidence)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Combined oxidative phosphorylation deficiency 12 MIM# 614924 Tags
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 Tags
Green Green List (high evidence)	ELOVL1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Tags
Green Green List (high evidence)	ELP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder MIM#617270 Tags
Green Green List (high evidence)	ERCC8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cockayne syndrome MIM#216400 Tags
Green Green List (high evidence)	ESAM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371 Tags
Green Green List (high evidence)	EXOSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pontocerebellar hypoplasia MIM#614678 Tags
Green Green List (high evidence)	FAR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cataracts, spastic paraparesis, and speech delay MIM#619338 Tags
Green Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency MIM#614946 3 Spastic paraplegia MIM#617046 Tags
Green Green List (high evidence)	FBXO31	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cerebral palsy, MONDO:0006497, FBXO31-related Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Fumarase deficiency MIM#606812 Tags
Green Green List (high evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Rett syndrome, congenital variant MIM# 613454 Tags
Green Green List (high evidence)	GCDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Glutaric aciduria, type I MIM#231670 Tags
Green Green List (high evidence)	GCH1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dystonia, DOPA-responsive, MIM#128230 Hyperphenylalaninemia, BH4-deficient, B, MIM#233910 Tags
Green Green List (high evidence)	GNAO1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Neurodevelopmental disorder with involuntary movements MIM# 617493 Tags
Green Green List (high evidence)	GNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Mental retardation, autosomal dominant 42 MIM# 616973 Tags
Green Green List (high evidence)	GRIN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MIM#614254 AD Tags
Green Green List (high evidence)	GRIN2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations GRIN2B-related complex neurodevelopmental disorder MONDO:0700350 Developmental and epileptic encephalopathy 27 MIM#616139 Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970 Tags
Green Green List (high evidence)	GSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Green Green List (high evidence)	HECW2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cerebral Palsy Neurodevelopmental disorder with hypotonia, seizures, and absent language MIM# 617268 Tags
Green Green List (high evidence)	HPDL	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026 Spastic paraplegia 83, autosomal recessive, MIM# 619027 Tags
Green Green List (high evidence)	HPRT1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Hyperuricemia, HRPT-related MIM#300323 Lesch-Nyhan syndrome MIM#300322 Tags
Green Green List (high evidence)	IFIH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 7 MIM#615846 Tags
Green Green List (high evidence)	IRF2BPL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MIM#618088 Tags
Green Green List (high evidence)	Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome ISCA-37430-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Miller-Dieker lissencephaly syndrome, MIM# 247200 Tags
Green Green List (high evidence)	ITPR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green Green List (high evidence)	KAT6A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Arboleda-Tham syndrome MIM#616268 Tags
Green Green List (high evidence)	KCNB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy MIM#616056 Tags
Green Green List (high evidence)	KCNC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Spinocerebellar ataxia 13, MIM# 605259 Tags
Green Green List (high evidence)	KCNQ2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 7 - #613720 Tags
Green Green List (high evidence)	KCNT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy MIM#614959 Tags
Green Green List (high evidence)	KDM5C	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KIDINS220	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296 Ventriculomegaly and arthrogryposis - #619501 Tags
Green Green List (high evidence)	KIF1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Spastic paraplegia 30, autosomal dominant, MIM# 610357 Tags
Green Green List (high evidence)	KMT2A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations Wiedemann-Steiner syndrome - #605130 Tags
Green Green List (high evidence)	KMT2B	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dystonia 28, childhood-onset MIM#617284 Intellectual developmental disorder, autosomal dominant MIM#619934 Tags
Green Green List (high evidence)	L1CAM	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations CRASH syndrome, MIM# 303350 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cardiofaciocutaneous syndrome MIM#615279 Tags
Green Green List (high evidence)	MAPK8IP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without variable brain abnormalities, MIM#618443 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mucolipidosis IV MIM#252650 Tags
Green Green List (high evidence)	MECP2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Literature Disease associations Encephalopathy, neonatal severe - 300673 Intellectual developmental disorder, X-linked syndromic, Lubs type - 300260 Intellectual developmental disorder, X-linked, syndromic 13 - 300055 Rett syndrome - 312750 Tags
Green Green List (high evidence)	MEF2C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443 Tags
Green Green List (high evidence)	MINPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pontocerebellar hypoplasia, type 16, MIM# 619527 Tags
Green Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Molybdenum cofactor deficiency B MIM#252160 Tags
Green Green List (high evidence)	MSL3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Basilicata-Akhtar syndrome MIM#301032 Tags
Green Green List (high evidence)	MT-TL1	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Disease associations MELAS MIM#540000 Tags mtDNA
Green Green List (high evidence)	NAA10	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Ogden syndrome MIM#300855 Tags
Green Green List (high evidence)	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebral palsy Mitochondrial complex I deficiency nuclear type 10 (OMIM 618233) Tags
Green Green List (high evidence)	NGLY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of deglycosylation (OMIM 615273) Tags
Green Green List (high evidence)	NKX2-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978 Tags
Green Green List (high evidence)	NSRP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green Green List (high evidence)	NT5C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 45, autosomal recessive, MIM# 613162 Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Lissencephaly MIM#607432 Subcortical laminar heterotopia MIM#607432 Tags
Green Green List (high evidence)	PAK3	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Intellectual developmental disorder, X-linked 30, MIM# 300558 Tags
Green Green List (high evidence)	PANK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations HARP syndrome ( OMIM 607236) Neurodegeneration with brain iron accumulation 1 (OMIM 234200) Tags
Green Green List (high evidence)	PCDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Diencephalic-mesencephalic junction dysplasia syndrome 1 (OMIM 251280) Tags
Green Green List (high evidence)	PCYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spastic paraplegia 82, autosomal recessive 618770 Tags
Green Green List (high evidence)	PDHA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Tags
Green Green List (high evidence)	PDHX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lacticacidemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PHIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Chung-Jansen syndrome, MIM#617991 Tags
Green Green List (high evidence)	PIGA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868 Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072 Tags
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 1 (OMIM 614080) Tags
Green Green List (high evidence)	PLA2G6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration with brain iron accumulation 2B MIM#610217 Tags
Green Green List (high evidence)	PLP1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Spastic paraplegia 2, X-linked MIM#312920 Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157 Tags
Green Green List (high evidence)	PROC	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Thrombophilia 3 due to protein C deficiency MIM#176860 Thrombophilia 3 due to protein C deficiency MIM#612304 Tags
Green Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Tags
Green Green List (high evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Martsolf syndrome 2 MIM#619420 Warburg micro syndrome MIM#600118 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pontocerebellar hypoplasia, type 6 MIM#611523 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 4 OMIM #610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 2 OMIM #610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 3 OMIM #610329 Tags
Green Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags SV/CNV
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 5 OMIM #612952 Tags
Green Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Glass syndrome MIM#612313 Tags
Green Green List (high evidence)	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317) Dravet syndrome (OMIM 607208) Tags
Green Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721 Tags
Green Green List (high evidence)	SCN8A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cerebral Palsy Epileptic encephalopathy 13 MIM# 614558 Cognitive impairment with or without cerebellar ataxia MIM# 614306 Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pontocerebellar hypoplasia type 2D MIM#613811 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Allan-Herndon-Dudley syndrome MIM#300523 Tags
Green Green List (high evidence)	SLC2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Disorders of glucose transport Tags
Green Green List (high evidence)	SLC6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Parkinsonism-dystonia, infantile, 1 MIM#613135 Tags
Green Green List (high evidence)	SLITRK2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked MIM#301107 Tags
Green Green List (high evidence)	SPAST	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebral Palsy MONDO:0006497, SPAST-related Tags
Green Green List (high evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spastic paraplegia 11, autosomal recessive, MIM# 604360 Tags
Green Green List (high evidence)	SPR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 Tags
Green Green List (high evidence)	SPTAN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 5 OMIM #613477 Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538 Tags
Green Green List (high evidence)	SPTBN2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia 5 MIM#600224 Spinocerebellar ataxia, autosomal recessive 14 MIM#615386 Tags
Green Green List (high evidence)	ST3GAL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Salt and pepper developmental regression syndrome MIM#609056 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly-capillary malformation syndrome MIM#614261 Tags
Green Green List (high evidence)	STXBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Developmental and epileptic encephalopathy 4, MIM# 612164 Tags
Green Green List (high evidence)	SUCO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Syndromic disease (MONDO:0002254), SUCO-related Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Sulfite oxidase deficiency MIM#272300 Tags
Green Green List (high evidence)	SYNGAP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 5 MIM#612621 Tags
Green Green List (high evidence)	TAF1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966 Dystonia-Parkinsonism, X-linked, OMIM #314250 Tags
Green Green List (high evidence)	TCF4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Pitt-Hopkins syndrome, MIM# 610954 Tags
Green Green List (high evidence)	TH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Segawa syndrome, recessive MIM#605407 Tags
Green Green List (high evidence)	TMX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730 Tags
Green Green List (high evidence)	TNR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653 Spastic para- or tetraparesis Axial muscular hypotonia Intellectual disability Transient opisthotonus Tags
Green Green List (high evidence)	TRAPPC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive MIM#13 613192 Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM #225750 Tags
Green Green List (high evidence)	TUBA1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Lissencephaly 3, MIM# 611603 Cerebral palsy Tags
Green Green List (high evidence)	TUBB2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations MIM# 615763 Tags
Green Green List (high evidence)	TUBB2B	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations 7, OMIM # 610031 Tags
Green Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations MIM#614039 Tags
Green Green List (high evidence)	TUBB4A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Dystonia 4, torsion, autosomal dominant, OMIM #128101 Leukodystrophy, hypomyelinating, 6, OMIM # 612438 Tags
Green Green List (high evidence)	UBE3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Literature Disease associations Angelman syndrome , OMIM #105830 Tags
Green Green List (high evidence)	VPS13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	WDR26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Skraban-Deardorff syndrome MIM#617616 Tags
Green Green List (high evidence)	WDR45	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Neurodegeneration with brain iron accumulation 5, OMIM # 300894 Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy MIM#616211 Spinocerebellar ataxia MIM#6143223 Tags
Green Green List (high evidence)	ZC4H2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Wieacker-Wolff syndrome, MIM# 314580 Tags
Green Green List (high evidence)	ZEB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mowat-Wilson syndrome, OMIM # 235730 Tags
Green Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, OMIM #617865 Tags
Amber Amber List (moderate evidence)	AGAP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Cerebral palsy, MONDO:0006497, AGAP1-related Tags SV/CNV
Amber Amber List (moderate evidence)	ALK	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Spastic-dystonic diplegia Tags
Amber Amber List (moderate evidence)	ARSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Metachromatic leukodystrophy, MIM#250100 Tags
Amber Amber List (moderate evidence)	B4GALNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic paraplegia 26, autosomal recessive, MIM#609195 Tags
Amber Amber List (moderate evidence)	BRAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Cardiofaciocutaneous syndrome, MIM#115150 Tags
Amber Amber List (moderate evidence)	BRAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056 neonatal lethal rigidity and multifocal seizure syndrome MIM#614498 Tags
Amber Amber List (moderate evidence)	CACNA1D	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Primary aldosteronism, seizures and neurologic abnormalities PASNA, MIM#615474 Tags
Amber Amber List (moderate evidence)	CDKL5	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Amber Amber List (moderate evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations CHARGE syndrome, MIM#608892 Tags
Amber Amber List (moderate evidence)	CTBP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915 Tags
Amber Amber List (moderate evidence)	DHPS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI), MIM#618480 Tags
Amber Amber List (moderate evidence)	DHX32	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DHX32-related Tags
Amber Amber List (moderate evidence)	EEF1A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy MIM#616409 Tags
Amber Amber List (moderate evidence)	FRRS1L	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy MIM#616981 Tags
Amber Amber List (moderate evidence)	GABRB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy MIM#617829 Tags
Amber Amber List (moderate evidence)	GALC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Krabbe disease, MIM#245200 Tags
Amber Amber List (moderate evidence)	HCFC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 Tags
Amber Amber List (moderate evidence)	HUWE1	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590 Tags
Amber Amber List (moderate evidence)	IQSEC2	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Amber Disease associations Intellectual developmental disorder MIM#309530 Tags
Amber Amber List (moderate evidence)	MAST1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273 Tags
Amber Amber List (moderate evidence)	MCCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations 3-Methylcrotonyl-CoA carboxylase 2 deficiency, MIM#210210 Tags
Amber Amber List (moderate evidence)	MED12	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Opitz-Kaveggia syndrome, MIM#305450 Tags
Amber Amber List (moderate evidence)	MMACHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Tags
Amber Amber List (moderate evidence)	MOCS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Molybdenum cofactor deficiency A MIM#252150 Tags
Amber Amber List (moderate evidence)	NALCN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Cerebral palsy Congenital contractures of the limbs and face, hypotonia, and developmental delay (OMIM 616266) Tags
Amber Amber List (moderate evidence)	NDUFA12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic tetraparesis intellectual disability encephalopathy Tags
Amber Amber List (moderate evidence)	NFIX	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Malan syndrome MIM#614753 Marshall-Smith syndrome MIM#602535 Tags
Amber Amber List (moderate evidence)	PIK3R2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM#603387 Tags
Amber Amber List (moderate evidence)	PNPLA6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spastic paraplegia 39 MIM#612020 Tags
Amber Amber List (moderate evidence)	POGZ	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations White-Sutton syndrome MIM#616364 Tags
Amber Amber List (moderate evidence)	POLA1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Van Esch-O'Driscoll syndrome, MIM#301030 Tags
Amber Amber List (moderate evidence)	POLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial DNA depletion syndrome 4a, MIM#203700, Mitochondrial DNA Depletion Syndrome 4B, MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), MIM#607459 Tags
Amber Amber List (moderate evidence)	PTPN11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations LEOPARD syndrome 1 MIM#151100 Noonan syndrome MIM#163950 Tags
Amber Amber List (moderate evidence)	PTPN23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 Tags
Amber Amber List (moderate evidence)	REPS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Cerebral palsy HP:0100021 Tags
Amber Amber List (moderate evidence)	RHOB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Disease associations Cerebral Palsy (PMID:32989326) Tags
Amber Amber List (moderate evidence)	RNU7-1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Aicardi-Goutières syndrome 9, MIM#619487 Tags non-coding gene
Amber Amber List (moderate evidence)	SETD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, autosomal dominant 70, MIM#620157 Luscan-Lumish syndrome, MIM#61683 Rabin-Pappas syndrome, MIM#620155 Tags
Amber Amber List (moderate evidence)	SHANK3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Phelan-McDermid syndrome, MIM# 606232 Tags
Amber Amber List (moderate evidence)	SLC13A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 Tags
Amber Amber List (moderate evidence)	SLC1A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy 41, MIM#617105 Tags
Amber Amber List (moderate evidence)	SMARCB1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Coffin-Siris syndrome 3, MIM# 614608 Tags
Amber Amber List (moderate evidence)	SNX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spinocerebellar ataxia, autosomal recessive 20 MIM#616354 Tags
Amber Amber List (moderate evidence)	SON	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations ZTTK syndrome MIM#617140 Tags
Amber Amber List (moderate evidence)	SOX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Microphthalmia, syndromic 3 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM#206900 Tags
Amber Amber List (moderate evidence)	SYNE1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 Tags
Amber Amber List (moderate evidence)	TANGO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 Tags
Amber Amber List (moderate evidence)	TEP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Cerebral palsy, MONDO:0006497, TEP1-related Tags
Amber Amber List (moderate evidence)	THOC2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, X-linked 12, MIM#300957 Tags
Amber Amber List (moderate evidence)	TSC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Tuberous sclerosis-1 MIM#191100 Tags
Amber Amber List (moderate evidence)	ZDHHC9	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, X-linked syndromic, Raymond type, MIM#300799 Tags
Red Red List (low evidence)	ABCD1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Adrenoleukodystrophy, MIM#300100 Tags
Red Red List (low evidence)	ABHD16A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Spastic paraplegia 86, autosomal recessive, MIM#619735 Tags
Red Red List (low evidence)	ACAD9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 Tags
Red Red List (low evidence)	AKT3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Red Red List (low evidence)	ALDH7A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Epilepsy, pyridoxine-dependent, MIM#266100 Tags
Red Red List (low evidence)	ARHGEF9	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 8, MIM#300607 Tags
Red Red List (low evidence)	ARID1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Coffin-Siris syndrome 1, MIM#135900 Tags
Red Red List (low evidence)	ARMC9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Joubert syndrome 30, MIM#617622 Tags
Red Red List (low evidence)	ASL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Argininosuccinic aciduria, MIM#207900 Tags
Red Red List (low evidence)	ASPA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Canavan disease, MIM#271900 Tags
Red Red List (low evidence)	ATP1A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Alternating hemiplegia of childhood 1, MIM#104290 Tags
Red Red List (low evidence)	ATP6V1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 93, MIM#618012 Tags
Red Red List (low evidence)	ATP7B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Wilson disease MIM#277900 Tags
Red Red List (low evidence)	ATR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Seckel syndrome, MIM#210600 Tags
Red Red List (low evidence)	BLTP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Alkuraya-Kucinskas syndrome, MIM#617822 Tags
Red Red List (low evidence)	BSCL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Spastic paraplegia 17, MIM#270685 Tags
Red Red List (low evidence)	CACNA1B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497 Tags
Red Red List (low evidence)	CAMK2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 54, MIM#617799 Tags
Red Red List (low evidence)	CAMK2G	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 59, MIM#618522 Tags
Red Red List (low evidence)	CCDC22	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Ritscher-Schinzel syndrome 2, MIM#300963 Tags
Red Red List (low evidence)	CEP290	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Joubert syndrome 5, MIM#610188 Tags
Red Red List (low evidence)	CHCHD10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Myopathy, isolated mitochondrial, MIM#616209 Tags
Red Red List (low evidence)	CHD3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Snijders Blok-Campeau syndrome, MIM#618205 Tags
Red Red List (low evidence)	CHD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Sifrim-Hitz-Weiss syndrome, MIM#617159 Tags
Red Red List (low evidence)	CLCN4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations Raynaud-Claes syndrome MIM#300114 Tags
Red Red List (low evidence)	CLCN7	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780 Osteopetrosis, autosomal recessive 4 OPTB4, MIM#602727 Tags
Red Red List (low evidence)	CLN6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neuronal Ceroid Lipofuscinosis 6, MIM#601780 Tags
Red Red List (low evidence)	COL6A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Dystonia 27, MIM#616411 Tags
Red Red List (low evidence)	COQ4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Coenzyme Q10 deficiency, primary, MIM#616276 Spastic ataxia 10, autosomal recessive, MIM#620666 Tags
Red Red List (low evidence)	CTCF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 21, MIM#615502 Tags
Red Red List (low evidence)	CUL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496 Tags
Red Red List (low evidence)	CYFIP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 65, MIM#618008 Tags
Red Red List (low evidence)	DCC	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Mirror movements 1 and/or agenesis of the corpus callosum, MIM#157600 Tags
Red Red List (low evidence)	DDX59	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Orofaciodigital syndrome V, MIM#174300 Tags
Red Red List (low evidence)	DHCR7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Smith-Lemli-Opitz syndrome, MIM#270400 Tags
Red Red List (low evidence)	DIAPH1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Seizures, cortical blindness, and microcephaly syndrome, MIM#616632 Tags
Red Red List (low evidence)	DLG4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 62, MIM#618793 Tags
Red Red List (low evidence)	DNM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cerebral palsy MONDO:0006497 Tags
Red Red List (low evidence)	DNMT3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Heyn-Sproul-Jackson syndrome, MIM#618724 Tatton-Brown-Rahman syndrome, MIM#615879 Tags
Red Red List (low evidence)	DUOX2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Thyroid dyshormonogenesis 6, MIM#607200 Tags
Red Red List (low evidence)	EBF3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Hypotonia, ataxia and delayed development syndrome MIM#617330 Tags
Red Red List (low evidence)	EBP	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations MEND syndrome, MIM#300960 Tags
Red Red List (low evidence)	EHMT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Kleefstra syndrome, MIM#610253 Tags
Red Red List (low evidence)	EPG5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Vici syndrome, MIM#242840 Tags
Red Red List (low evidence)	ERLIN2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Spastic paraplegia 18A, autosomal dominant, MIM#620512 Spastic paraplegia 18B, autosomal recessive, MIM#611225 Tags
Red Red List (low evidence)	EZH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Weaver syndrome, MIM#277590 Tags
Red Red List (low evidence)	FAM20C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Raine syndrome, MIM#259775 Tags
Red Red List (low evidence)	FGD1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Aarskog-Scott syndrome Intellectual developmental disorder, X-linked syndromic 16, MIM#305400 Tags
Red Red List (low evidence)	FGFR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Hartsfield syndrome, MIM#615465 Tags
Red Red List (low evidence)	FLNA	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations Heterotopia, periventricular, 1, MIM#300049 Tags
Red Red List (low evidence)	FUS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Essential tremor, MIM#614782 Tags
Red Red List (low evidence)	GABBR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 59, MIM#617904 Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903 Tags
Red Red List (low evidence)	GABRB1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy MIM#617153 Tags
Red Red List (low evidence)	GAD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cerebral palsy, spastic quadriplegic, 1, MIM#603513 Tags
Red Red List (low evidence)	GAMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Cerebral creatine deficiency syndrome 2, MIM#612736 Tags
Red Red List (low evidence)	GATAD2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations GAND syndrome, MIM#615076 Tags
Red Red List (low evidence)	GBA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Gaucher disease, MIM#231000 Tags
Red Red List (low evidence)	GFAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Alexander disease, MIM#203450 Tags
Red Red List (low evidence)	GRIN2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Epilepsy, focal, with speech disorder and with or without impaired intellectual development, MIM#245570 Tags
Red Red List (low evidence)	HIVEP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 43, MIM#616977 Tags
Red Red List (low evidence)	HPCA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Dystonia 2, torsion, autosomal recessive, MIM#224500 Tags
Red Red List (low evidence)	HSPD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Leukodystrophy, hypomyelinating, 4, MIM#612233 Tags
Red Red List (low evidence)	HYCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Leukodystrophy, hypomyelinating MIM#610532 Tags
Red Red List (low evidence)	IREB2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Tags
Red Red List (low evidence)	KANK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Cerebral palsy, spastic quadriplegic, 2, MIM#612900 Tags
Red Red List (low evidence)	KAT6B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations SBBYSS syndrome, MIM#603736 Genitopatellar syndrome, MIM#606170 Tags
Red Red List (low evidence)	KCNH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Temple-Baraitser syndrome, MIM#611816 Zimmermann-Laband syndrome 1, MIM#135500 Tags
Red Red List (low evidence)	KCNK9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Red Literature Disease associations Birk-Barel syndrome (KCNK9 imprinting syndrome), MIM#612292 Tags
Red Red List (low evidence)	KCNQ3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Seizures, benign neonatal, 2, MIM#121201 Tags
Red Red List (low evidence)	KCNQ5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 46, MIM#617601 Tags
Red Red List (low evidence)	KDM3B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Diets-Jongmans syndrome, MIM#618846 Tags
Red Red List (low evidence)	KDM7A	1 review 1 red	Unknown	Sources Expert list Expert Review Red Literature Disease associations Cerebral palsy MONDO:0006497, KDM7A-related Tags
Red Red List (low evidence)	KIF14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Microcephaly 20, primary, MIM#617914 Tags
Red Red List (low evidence)	KIF5C	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cortical dysplasia, complex, with other brain malformations 2 MIM#615282 Tags
Red Red List (low evidence)	KMT2D	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Kabuki syndrome 1, MIM#147920 Tags
Red Red List (low evidence)	LAMA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Poretti-Boltshauser syndrome, MIM#615960 Tags
Red Red List (low evidence)	LRP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Donnai-Barrow syndrome, MIM#222448 Tags
Red Red List (low evidence)	LZTR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Noonan syndrome 2, MIM#605275 Tags
Red Red List (low evidence)	MACF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Lissencephaly 9 with complex brainstem malformation, MIM#618325 Tags
Red Red List (low evidence)	MAOB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cerebral palsy Tags
Red Red List (low evidence)	MBD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 1, MIM#156200 Tags
Red Red List (low evidence)	MED13L	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789 Tags
Red Red List (low evidence)	MFN2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260 Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087 Hereditary motor and sensory neuropathy VIA - 601152 Tags
Red Red List (low evidence)	MLC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Megalencephalic leukoencephalopathy with subcortical cysts MIM#604004 Tags
Red Red List (low evidence)	MMUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Methylmalonic aciduria, MIM#251000 Tags
Red Red List (low evidence)	MYH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Congenital myopathy 6 with ophthalmoplegia, MIM#605637 Tags
Red Red List (low evidence)	MYO9A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198 Tags
Red Red List (low evidence)	NEFL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882 Tags
Red Red List (low evidence)	NEXMIF	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Red Disease associations X-linked Intellectual disability epilepsy autism Tags
Red Red List (low evidence)	NFE2L2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Immunodeficiency, developmental delay, and hypohomocysteinemia , MIM#617744 Tags
Red Red List (low evidence)	NFIB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Tags
Red Red List (low evidence)	NOTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Adams-Oliver syndrome 5, MIM#616028 Tags
Red Red List (low evidence)	NR2F1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722 NR2F1-related neurodevelopmental disorder Tags
Red Red List (low evidence)	NSD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Sotos syndrome, MIM#117550 Tags
Red Red List (low evidence)	NSD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Rauch-Steindl syndrome, MIM#619695 Tags
Red Red List (low evidence)	OPHN1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, X-linked syndromic, Billuart type, MIM#300486 Tags
Red Red List (low evidence)	PACS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Schuurs-Hoeijmakers syndrome, MIM#615009 Tags
Red Red List (low evidence)	PCDH19	1 review 1 red	Other	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 9 (OMIM 300088) Tags
Red Red List (low evidence)	PCLO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Red Red List (low evidence)	PDE10A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Dyskinesia, limb and orofacial, infantile-onset, autosomal recessive, MIM#616921 Striatal degeneration, autosomal dominant, MIM#616922 Tags
Red Red List (low evidence)	PGAP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 Tags
Red Red List (low evidence)	PHF6	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations Borjeson-Forssman-Lehmann syndrome, MIM#301900 Tags
Red Red List (low evidence)	PHKA2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Glycogen storage disease, type IXa, 306000 Tags
Red Red List (low evidence)	PIDD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827 Tags
Red Red List (low evidence)	PIK3CA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501 Tags
Red Red List (low evidence)	PMM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Congenital disorder of glycosylation, type Ia MIM#212065 Tags
Red Red List (low evidence)	POLR2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM#618603 Tags
Red Red List (low evidence)	PPM1D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Jansen-de Vries syndrome, MIM#617450 Tags
Red Red List (low evidence)	PQBP1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Renpenning syndrome, MIM#309500 Tags
Red Red List (low evidence)	PUM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719 Spinocerebellar ataxia 47, MIM#617931 Tags
Red Red List (low evidence)	RARB	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Microphthalmia, syndromic 12, MIM#615524 Tags
Red Red List (low evidence)	ROGDI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Kohlschutter-Tonz syndrome, MIM#226750 Tags
Red Red List (low evidence)	RTN4IP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, MIM#616732 Tags
Red Red List (low evidence)	RTTN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833 Tags
Red Red List (low evidence)	SETBP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 29, MIM#616078 Schinzel-Giedion midface retraction syndrome, MIM#269150 Tags
Red Red List (low evidence)	SGCE	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Dystonia-11, myoclonic, MIM#159900 Tags
Red Red List (low evidence)	SIK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 30, MIM#616341 Tags
Red Red List (low evidence)	SLC25A12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 39, MIM#612949 Tags
Red Red List (low evidence)	SLC35A2	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations Congenital disorder of glycosylation, type IIm, MIM#300896 Tags
Red Red List (low evidence)	SLC6A5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hyperekplexia 3, MIM#614618 Tags
Red Red List (low evidence)	SMARCA2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Blepharophimosis-impaired intellectual development syndrome, MIM#619293 Nicolaides-Baraitser syndrome, MIM#601358 Tags
Red Red List (low evidence)	SMARCA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Coffin-Siris syndrome 4, MIM#614609 Tags
Red Red List (low evidence)	SMC1A	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Literature Disease associations Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM#301044 Tags
Red Red List (low evidence)	SMC3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cornelia de Lange syndrome 3, MIM#610759 Tags
Red Red List (low evidence)	SMG8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Alzahrani-Kuwahara syndrome, MIM#619268 Tags
Red Red List (low evidence)	SOX10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations PCWH syndrome, MIM#609136 Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584 Tags
Red Red List (low evidence)	TANC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#618906 Tags
Red Red List (low evidence)	TBCD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum MIM#617193 Tags
Red Red List (low evidence)	TBCK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hypotonia, infantiale with psychomotor retardation and characteristic facies 3, MIM#616900 Tags
Red Red List (low evidence)	TBR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder with autism and speech delay, MIM#606053 Tags
Red Red List (low evidence)	TBX6	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Spondylocostal dysostosis 5, MIM#122600 Tags
Red Red List (low evidence)	TENM1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TGM6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Spinocerebellar ataxia 35, MIM#613908 Tags
Red Red List (low evidence)	TOR1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Dystonia-1, torsion, MIM#128100 Tags
Red Red List (low evidence)	TRIO	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 44, with microcephaly MIM#617061 Tags
Red Red List (low evidence)	TRIP12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 49, MIM#617752 Tags
Red Red List (low evidence)	TRIT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Red Red List (low evidence)	TRPM3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures (NEDFSS), MIM#620224) Tags
Red Red List (low evidence)	TSC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Tuberous sclerosis-2, MIM#613254 Tags
Red Red List (low evidence)	TSEN54	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Pontocerebellar hypoplasia type 2, MIM#277470 Tags
Red Red List (low evidence)	TSHR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Hyperthyroidism, nonautoimmune, MIM#609152 Tags
Red Red List (low evidence)	TUBG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cortical dysplasia, complex, with other brain malformations 4, MIM#615412 Tags
Red Red List (low evidence)	VPS13B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Cohen syndrome, MIM#216550 Tags
Red Red List (low evidence)	VPS53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Pontocerebellar hypoplasia, type 2E, MIM#615851 Tags
Red Red List (low evidence)	WDR62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317 Tags
Red Red List (low evidence)	ZBTB18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal dominant 22, MIM#612337 Tags
Red Red List (low evidence)	ZIC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Holoprosencephaly, MIM#609637 Tags
Red Red List (low evidence)	ZMYM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM#619522 Tags
Red Red List (low evidence)	ZMYND11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder 30, MIM#616083 Tags

Cerebral Palsy (Version 2.0)

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