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Genetic Epilepsy

Gene: GATAD2B

Amber List (moderate evidence)

GATAD2B (GATA zinc finger domain containing 2B)
EnsemblGeneIds (GRCh38): ENSG00000143614
EnsemblGeneIds (GRCh37): ENSG00000143614
OMIM: 614998, Gene2Phenotype
GATAD2B is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

More than 70 patients reported: - loss-of-function and missense variants - clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly.

Seizures are a rare feature.
Sources: Expert Review
Created: 18 Oct 2021, 9:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 18, OMIM # 615074

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Mental retardation, autosomal dominant 18, OMIM # 615074
OMIM
614998
Clinvar variants
Variants in GATAD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gatad2b has been classified as Amber List (Moderate Evidence).

18 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gatad2b has been classified as Amber List (Moderate Evidence).

18 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GATAD2B was added gene: GATAD2B was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATAD2B were set to 32688057 Phenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074 Review for gene: GATAD2B was set to AMBER