Anophthalmia_Microphthalmia_Coloboma (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 102 Entitiess
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Baraitser-Winter syndrome 1, MIM#243310 Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Baraitser-Winter syndrome 2, MIM#614583 Tags
Green Green List (high evidence)	ALDH1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, isolated 8, MIM# 615113 Tags
Green Green List (high evidence)	ARHGAP35	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental defect of the eye (MONDO:0020145), ARHGAP35-related Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bohring-Opitz syndrome , MIM#605039 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Peters-plus syndrome, MIM#261540 Tags
Green Green List (high evidence)	BCOR	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 Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia Tags
Green Green List (high evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, syndromic 6, MIM# 607932 Tags
Green Green List (high evidence)	BMPR1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations coloboma MONDO#0001476, BMPR1B-related Tags
Green Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Temtamy syndrome, MIM#218340 Tags
Green Green List (high evidence)	CAPN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Oculogastrointestinal neurodevelopmental syndrome 619318 microphthalmia HP:0000568 coloboma HP:0000589 Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations COACH syndrome 2, MIM# 619111 Tags
Green Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly 3, primary, autosomal recessive, MIM# 604804 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	CLDN19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hypomagnesemia 5, renal, with ocular involvement, MIM#248190 Tags
Green Green List (high evidence)	COL4A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Brain small vessel disease with or without ocular anomalies, MIM#175780 Tags
Green Green List (high evidence)	EPHA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations microphthalmia, MONDO:0021129, EPHA2-related Tags
Green Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Kenny-Caffey syndrome, type 2, MIM@ 127000 Tags
Green Green List (high evidence)	FAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations facial dysmorphism colobomatous microphthalmia ptosis syndactyly with or without nephropathy Tags
Green Green List (high evidence)	FBXW11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 Intellectual disability developmental eye anomalies digital anomalies Tags
Green Green List (high evidence)	FOXE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 Tags
Green Green List (high evidence)	FZD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Microphthalmia/coloboma 11, MIM# 620731 Tags
Green Green List (high evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Oculodentodigital dysplasia, autosomal recessive, MIM# 257850 Oculodentodigital dysplasia, MIM# 164200 Tags
Green Green List (high evidence)	GJA8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cataract 1, multiple types, MIM# 116200 Microphthalmia Tags
Green Green List (high evidence)	HCCS	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 Linear skin defects with multiple congenital anomalies 1, MIM# 309801 Tags SV/CNV
Green Green List (high evidence)	HMX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Oculoauricular syndrome, MIM#612109 Tags
Green Green List (high evidence)	IKBKG	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 Incontinentia pigmenti, MIM# 308300 Tags
Green Green List (high evidence)	Cat eye syndrome, 22q11.21 tetrasomy syndrome ISCA-37393-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green Green List (high evidence)	LRP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Donnai-Barrow syndrome, MIM#222448 Tags
Green Green List (high evidence)	MAB21L1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Microphthalmia MONDO:0021129, MAB21L1-related Tags
Green Green List (high evidence)	MAB21L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Tags
Green Green List (high evidence)	MFRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, isolated 5, MIM# 611040 Tags
Green Green List (high evidence)	MIR204	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Tags non-coding gene
Green Green List (high evidence)	MITF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations COMMAD syndrome, MIM# 617306 Tags
Green Green List (high evidence)	MPDZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219 Tags
Green Green List (high evidence)	MYRF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Nanophthalmos 1, MIM# 600165 Tags
Green Green List (high evidence)	NAA10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, syndromic 1, MIM# 309800 Tags 5'UTR
Green Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Norrie disease, MIM# 310600 Tags
Green Green List (high evidence)	NHS	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 Nance-Horan syndrome, MIM# 302350 Tags
Green Green List (high evidence)	NR6A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Oculovertebral syndrome, MIM# 621277 Tags
Green Green List (high evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Lowe syndrome, MIM# 309000 Tags
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, syndromic 5, MIM# 610125 Tags
Green Green List (high evidence)	PACS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Schuurs-Hoeijmakers syndrome, MIM# 615009 Tags
Green Green List (high evidence)	PAX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Papillorenal syndrome, MIM# 120330 Renal coloboma syndrome, MONDO:0007352 Tags
Green Green List (high evidence)	PAX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia Coloboma, ocular, MIM# 120200 Tags
Green Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations CHIME syndrome, MIM# 280000, MONDO:0010221 Tags founder SV/CNV
Green Green List (high evidence)	PITX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623 Microphthalmia Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 Walker-Walburg syndrome Tags
Green Green List (high evidence)	PORCN	1 review 1 green	Other	Sources Expert list Expert Review Green Disease associations Focal dermal hypoplasia, MIM#305600 Tags
Green Green List (high evidence)	PRDM15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Galloway-Mowat syndrome MONDO:0009627, PRDM15-related Tags
Green Green List (high evidence)	PRR12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neuroocular syndrome, MIM#619539 Complex microphthalmia Tags
Green Green List (high evidence)	PRSS56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, isolated 6, MIM# 613517 Tags
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Verheij syndrome, MIM#615583 Tags
Green Green List (high evidence)	PXDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400 Tags
Green Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Warburg micro syndrome 3, MIM# 614222 Tags founder
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Warburg micro syndrome 1, MIM# 600118 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Warburg micro syndrome 2, MIM# 614225 Tags
Green Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, syndromic 12, MIM# 615524 Tags
Green Green List (high evidence)	RAX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, isolated 3, MIM# 611038 Tags
Green Green List (high evidence)	RBP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Microphthalmia, isolated, with coloboma 10 MIM#616428 Tags
Green Green List (high evidence)	RERE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green Green List (high evidence)	RHOA	2 reviews 2 green	Other	Sources Expert Review Green Literature Disease associations Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, MIM# 618727 Tags somatic
Green Green List (high evidence)	SALL4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Duane-radial ray syndrome, MIM#607323 Tags
Green Green List (high evidence)	SHH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia with coloboma 5, MIM# 611638 Holoprosencephaly 3, MIM# 142945 Tags
Green Green List (high evidence)	SIX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Holoprosencephaly 2, MIM# 157170 Tags
Green Green List (high evidence)	SIX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550 Tags
Green Green List (high evidence)	SMCHD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bosma arhinia microphthalmia syndrome (MIM#603457) Arhinia, choanal atresia, microphthalmia MONDO:0011323 Tags
Green Green List (high evidence)	SMO	1 review 1 green	Other	Sources Expert list Expert Review Green Disease associations Curry-Jones syndrome, somatic mosaic, MIM#601707 Tags somatic
Green Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia with limb anomalies, MIM# 206920 Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia, isolated, with coloboma 8, MIM# 601186 Microphthalmia, syndromic 9, MIM# 601186 Tags
Green Green List (high evidence)	TBC1D20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Warburg micro syndrome 4, MIM# 615663 Tags
Green Green List (high evidence)	TBC1D32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Alsahan-Harris syndrome, MIM#621307 Tags
Green Green List (high evidence)	TENM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microphthalmia, syndromic 15, MIM#615145 coloboma Tags
Green Green List (high evidence)	TFAP2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Branchiooculofacial syndrome, MIM# 113620 Tags
Green Green List (high evidence)	TMEM98	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Nanophthalmos 4 MIM#615972 Tags
Green Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microphthalmia with coloboma 3, MIM# 610092 Microphthalmia, isolated 2, MIM# 610093 Tags
Green Green List (high evidence)	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neurooculocardiogenitourinary syndrome, MIM# 618652 Tags
Green Green List (high evidence)	WLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Zaki syndrome, MIM#619648 Tags
Green Green List (high evidence)	WNT7B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related Tags
Green Green List (high evidence)	YAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 Tags
Amber Amber List (moderate evidence)	ANK3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations coloboma MONDO#0001476, ANK3-related Tags
Amber Amber List (moderate evidence)	BMP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations coloboma, MONDO:0001476 microphthalmia, MONDO:0021129 Tags
Amber Amber List (moderate evidence)	CDON	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Coloboma Tags
Amber Amber List (moderate evidence)	CRIM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Microphthalmia, MONDO:0021129, CRIM1-related Tags
Amber Amber List (moderate evidence)	MYH10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MYH10-related Tags
Amber Amber List (moderate evidence)	RPGRIP1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations COACH syndrome, MIM#216360 Tags
Amber Amber List (moderate evidence)	TOGARAM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Joubert syndrome 37, MIM# 619185 Cleft of the lip and palate Microphthalmia Cerebral dysgenesis Hydrocephalus Tags
Amber Amber List (moderate evidence)	VPS35L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Tags new gene name
Amber Amber List (moderate evidence)	ZRSR2	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Orofaciodigital syndrome XXI, MIM# 301132 Tags
Red Red List (low evidence)	ABCB6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Microphthalmia, isolated, with coloboma 7 MIM#614497 Tags
Red Red List (low evidence)	CDH4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations coloboma MONDO#0001476, CDH4-related Tags
Red Red List (low evidence)	GDF3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Microphthalmia with coloboma 6, OMIM #613703 Microphthalmia, isolated 7, OMIM # 613704 Tags
Red Red List (low evidence)	HESX1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Septooptic dysplasia, MIM# 182230 Tags
Red Red List (low evidence)	KIF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Braddock-Carey syndrome 2 - MIM#619981 Tags
Red Red List (low evidence)	KIF17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related Tags
Red Red List (low evidence)	NHEJ1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Microphthalmia/coloboma, MIM# 13 620968 Tags deep intronic
Red Red List (low evidence)	PDGFRA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations coloboma MONDO#0001476, PDGFRA-related Tags
Red Red List (low evidence)	RARA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Syndromic chorioretinal coloboma Tags
Red Red List (low evidence)	SALL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Disease associations Coloboma, ocular, autosomal recessive, MIM#16820 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)	VAX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Microphthalmia, syndromic 11, MIM# 614402 Tags

Anophthalmia_Microphthalmia_Coloboma (Version 2.0)

17 reviewers

102 Entities

102 reviewed, 81 green

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