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  3. GATAD2B
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Cerebral Palsy

Gene: GATAD2B

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

1 review

Clare van Eyk (University of Adelaide)

I don't know

Additional case with de novo heterozygous LP variant described in WGS study of clinically confirmed CP (PMID: 38553553). Same variant previously reported pathogenic from clinical testing in ClinVar, but no phenotypic data.
Created: 27 Jun 2024, 3:44 a.m. | Last Modified: 27 Jun 2024, 3:44 a.m.
Panel Version: 1.348
2 individuals with mono-allelic stopgain variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Some clinical overlap with CP.
Sources: Literature
Created: 27 May 2024, 5:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
GAND syndrome, MIM#615076

Publications

Created: 27 May 2024, 5:46 a.m.

Panel version: 1.348

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • GAND syndrome, MIM#615076
OMIM
614998
Clinvar variants
Variants in GATAD2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gatad2b has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gatad2b has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: GATAD2B was added gene: GATAD2B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATAD2B were set to PMID: 38693247 Phenotypes for gene: GATAD2B were set to GAND syndrome, MIM#615076 Review for gene: GATAD2B was set to AMBER