PanelApp (test)
  1. Panels
  2. Brain Calcification
Description
Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.

This panel was developed and is maintained by VCGS.

The panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.

Updated December 2025 following literature review.
Panel Activity

12 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Suliman Khan (Victorian Clinical Genetics Services)

  • Achchuthan Shanmugasundram (Genomics England)

  • Yetong Chen (University of Melbourne)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Catherine Dalzell (Other)

96 Entities

96 reviewed, 66 green

List Entity Reviews Mode of inheritance Details
96 Entitiess
Green Green List (high evidence)
ACP5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944
Tags
Green Green List (high evidence)
ACVR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Fibrodysplasia ossificans progressiva, MIM# 135100
Tags
Green Green List (high evidence)
ADAR
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Aicardi-Goutieres syndrome 6, MIM#615010
Tags
Green Green List (high evidence)
ALPK1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • ROSAH syndrome, MIM# 614979
Tags
Green Green List (high evidence)
AP1S2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Pettigrew syndrome, MIM# 304340
Tags
Green Green List (high evidence)
ATP1A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
Tags
Green Green List (high evidence)
C1QA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Disease associations
  • C1q deficiency, MIM# 613652
Tags
Green Green List (high evidence)
CA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730
Tags
Green Green List (high evidence)
CASR
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Hypocalcemia, autosomal dominant, MIM# 601198
Tags
Green Green List (high evidence)
CLDN5
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Syndromic disorder, MONDO:0002254, CLDN5-related
Tags
Green Green List (high evidence)
COL4A1
2 reviews
2 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)
COLGALT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Brain small vessel disease 3 MIM#618360
Tags
Green Green List (high evidence)
CSF1R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476
  • BANDDOS
Tags
Green Green List (high evidence)
CTC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Tags
Green Green List (high evidence)
CYP2U1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Spastic paraplegia 56, autosomal recessive, MIM# 615030
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)
ECM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Urbach-Wiethe disease, MIM# 247100
Tags
Green Green List (high evidence)
ERCC6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cockayne syndrome, type B, MIM#133540
Tags
Green Green List (high evidence)
ERCC8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Cockayne syndrome, type A, MIM# 216400
Tags
Green Green List (high evidence)
ESAM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371
Tags
Green Green List (high evidence)
FAM111A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Kenny-Caffey syndrome, type 2, MIM# 127000
Tags
Green Green List (high evidence)
FAM20C
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Raine syndrome, MIM# 259775
Tags
Green Green List (high evidence)
FARSA
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Tags
Green Green List (high evidence)
FARSB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Rajab syndrome, MIM#613658
  • interstitial lung disease
  • brain calcifications
  • microcephaly
  • intellectual disability
Tags
Green Green List (high evidence)
FLVCR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Tags
Green Green List (high evidence)
GALC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Krabbe disease, MIM# 245200
Tags
Green Green List (high evidence)
GATA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Tags
Green Green List (high evidence)
GCM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Hypoparathyroidism, familial isolated 2, MIM# 618883
Tags
Green Green List (high evidence)
GJA1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Oculodentodigital dysplasia, MIM# 164200
Tags
Green Green List (high evidence)
GNAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Pseudohypoparathyroidism Ib, MIM# 603233
Tags
Green Green List (high evidence)
IFIH1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Aicardi-Goutieres syndrome 7, MIM#615846
Tags
Green Green List (high evidence)
ISG15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Immunodeficiency 38 with BG calcification, MIM# 616126
Tags
Green Green List (high evidence)
JAM2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824
Tags
Green Green List (high evidence)
JAM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Tags
Green Green List (high evidence)
KARS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Leukoencephalopathy with or without deafness (LEPID), MIM#619147
Tags
Green Green List (high evidence)
MYORG
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Basal ganglia calcification, idiopathic, 7, MIM#618317
Tags
  • new gene name
Green Green List (high evidence)
NAA60
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Disease associations
  • Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786
Tags
Green Green List (high evidence)
NOTCH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related
Tags
Green Green List (high evidence)
NRROS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • neurodegeneration
  • intracranial calcification
  • epilepsy
Tags
Green Green List (high evidence)
NUDT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Intellectual developmental disorder with or without peripheral neuropathy MIM#619844
Tags
Green Green List (high evidence)
OCLN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Pseudo-TORCH syndrome 1, MIM#251290
Tags
Green Green List (high evidence)
PCDH12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Tags
Green Green List (high evidence)
PDGFB
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Basal ganglia calcification, idiopathic, 5 , MIM#615483
Tags
Green Green List (high evidence)
PDGFRB
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Basal ganglia calcification, idiopathic, 4, MIM# 615007
  • MONDO:0014004
Tags
Green Green List (high evidence)
POLA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Telomere biology syndrome MONDO:0100137
Tags
Green Green List (high evidence)
RNASEH2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Aicardi-Goutieres syndrome 4, MIM# 610333
Tags
Green Green List (high evidence)
RNASEH2B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Aicardi-Goutieres syndrome 2, MIM# 610181
Tags
Green Green List (high evidence)
RNASEH2C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Aicardi-Goutieres syndrome 3, MIM# 610329
Tags
Green Green List (high evidence)
RNASET2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951
Tags
Green Green List (high evidence)
RNU7-1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Aicardi-Goutieres syndrome 9, MIM# 619487
Tags
  • non-coding gene
Green Green List (high evidence)
SAMHD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Aicardi-Goutieres syndrome 5, MIM# 612952
Tags
Green Green List (high evidence)
SLC20A2
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Basal ganglia calcification, idiopathic, 1, MIM# 213600
Tags
Green Green List (high evidence)
SLC46A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Folate malabsorption, hereditary, MIM# 229050
Tags
Green Green List (high evidence)
SNORD118
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Tags
  • non-coding gene
Green Green List (high evidence)
STN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341
Tags
Green Green List (high evidence)
SUOX
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Sulfite oxidase deficiency, MIM# 272300
Tags
Green Green List (high evidence)
TBCE
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Tags
Green Green List (high evidence)
TINF2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Revesz syndrome, MIM# 268130
Tags
Green Green List (high evidence)
TREM2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193
Tags
Green Green List (high evidence)
TREX1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750
Tags
Green Green List (high evidence)
TSC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Tuberous sclerosis 1, MIM# 191100
Tags
Green Green List (high evidence)
TSC2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Tuberous sclerosis 2, MIM# 613254
Tags
Green Green List (high evidence)
TYROBP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770
Tags
Green Green List (high evidence)
USP18
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Pseudo-TORCH syndrome 2, MIM# 617397
Tags
Green Green List (high evidence)
XPR1
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Basal ganglia calcification, idiopathic, 6, MIM# 616413
Tags
Green Green List (high evidence)
ZBTB20
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Primrose syndrome, MIM# 259050
Tags
Amber Amber List (moderate evidence)
CMPK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related
Tags
Amber Amber List (moderate evidence)
GLA
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Fabry disease, MIM# 301500
Tags
Amber Amber List (moderate evidence)
IRF8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Tags
Amber Amber List (moderate evidence)
MOCS1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Molybdenum cofactor deficiency A, MIM# 252150
Tags
Amber Amber List (moderate evidence)
PANK2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Neurodegeneration with brain iron accumulation 1, MIM# 234200
Tags
Amber Amber List (moderate evidence)
RRP12
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452
Tags
Amber Amber List (moderate evidence)
WDR45
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 list
  • Expert Review Amber
Disease associations
  • Neurodegeneration with brain iron accumulation 5, MIM# 300894
Tags
Red Red List (low evidence)
ATN1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Dentatorubral-pallidoluysian atrophy, MIM# 125370
Tags
  • STR
Red Red List (low evidence)
BTD
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Biotinidase deficiency, MIM# 253260
Tags
Red Red List (low evidence)
C1QB
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • C1q deficiency, MIM# 613652
Tags
Red Red List (low evidence)
COASY
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Neurodegeneration with brain iron accumulation 6, MIM# 615643
Tags
Red Red List (low evidence)
COL4A2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Brain small vessel disease 2, MIM# 614483
Tags
Red Red List (low evidence)
DENND5A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Developmental and epileptic encephalopathy 49, MIM# 617281
Tags
Red Red List (low evidence)
ERCC3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Xeroderma pigmentosum, group B, MIM# 610651
Tags
Red Red List (low evidence)
ERCC5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Xeroderma pigmentosum, group G
  • Cockayne syndrome, MIM# 278780
Tags
Red Red List (low evidence)
EXOSC4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Neurodevelopmental disorder, MONDO:0700092
Tags
Red Red List (low evidence)
FOLR1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Tags
Red Red List (low evidence)
GNA11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Hypocalcemia, autosomal dominant 2, MIM# 615361
Tags
Red Red List (low evidence)
LSM11
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Aicardi-Goutieres syndrome 8, MIM# 619486
Tags
Red Red List (low evidence)
MT-ATP6
2 reviews
2 red 		MITOCHONDRIAL
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Leigh syndrome, MONDO:0009723
Tags
Red Red List (low evidence)
PLXNA1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955
Tags
Red Red List (low evidence)
PSMB8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040
Tags
Red Red List (low evidence)
PSMG2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Proteasome-associated autoinflammatory syndrome 4, MIM# 619183
Tags
Red Red List (low evidence)
PTH
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Hypoparathyroidism, familial isolated 1, MIM# 146200
Tags
Red Red List (low evidence)
PTS
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Tags
Red Red List (low evidence)
QDPR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Dihydropteridine Reductase (DHPR) Deficiency, MIM* 612676
Tags
Red Red List (low evidence)
RAB39B
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Intellectual developmental disorder, X-linked 72, MIM# 300271
Tags
Red Red List (low evidence)
TBC1D20
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Warburg micro syndrome 4, MIM# 615663
Tags
Red Red List (low evidence)
TRPM6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Hypomagnesemia 1, intestinal, MIM# 602014
Tags
Red Red List (low evidence)
VARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Disease associations
  • Combined oxidative phosphorylation deficiency 20, MIM# 615917
Tags

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