PanelApp (stage)
  1. Panels
  2. Brain Calcification
Description
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.
Panel Activity

10 reviewers

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Achchuthan Shanmugasundram (Genomics England)

  • Yetong Chen (University of Melbourne)

  • Suliman Khan (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

82 Entities

82 reviewed, 56 green

List Entity Reviews Mode of inheritance Details
82 Entitiess
Green Green List (high evidence)
ACP5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Aicardi-Goutieres syndrome 6, MIM#615010
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
Phenotypes
  • Mental retardation, X-linked syndromic 5, MIM#304340
Tags
Green Green List (high evidence)
CA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Brain small vessel disease 3 MIM#618360
Tags
Green Green List (high evidence)
CTC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • Spastic paraplegia 56, autosomal recessive, MIM# 615030
Tags
Green Green List (high evidence)
ECM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Rajab syndrome, MIM#613658
  • interstitial lung disease
  • brain calcifications
  • microcephaly
  • intellectual disability
Tags
Green Green List (high evidence)
GALC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Tags
Green Green List (high evidence)
GCM2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Primary brain calcification
Tags
Green Green List (high evidence)
JAM3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730
Tags
Green Green List (high evidence)
KIAA1161
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
Phenotypes
  • Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786
Tags
Green Green List (high evidence)
NRROS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodegeneration
  • intracranial calcification
  • epilepsy
Tags
Green Green List (high evidence)
OCLN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Basal ganglia calcification, idiopathic, 4, MIM# 615007
  • MONDO:0014004
Tags
Green Green List (high evidence)
RNASEH2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Aicardi-Goutieres syndrome 9, MIM# 619487
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 5, MIM# 612952
Tags
Green Green List (high evidence)
SLC20A2
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Tags
Green Green List (high evidence)
STN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Pseudo-TORCH syndrome 2, MIM# 617397
Tags
Green Green List (high evidence)
XPR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
Phenotypes
  • Primrose syndrome, MIM# 259050
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
Phenotypes
  • Fabry disease, MIM# 301500
Tags
Amber Amber List (moderate evidence)
MOCS1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • 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
Phenotypes
  • Neurodegeneration with brain iron accumulation 1, MIM# 234200
Tags
Amber Amber List (moderate evidence)
WDR45
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 list
  • Expert Review Amber
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Xeroderma pigmentosum, group G
  • Cockayne syndrome, MIM# 278780
Tags
Red Red List (low evidence)
FOLR1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • 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
Phenotypes
  • Combined oxidative phosphorylation deficiency 20, MIM# 615917
Tags

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