Macrocephaly_Megalencephaly
Gene: GATAD2BEnsemblGeneIds (GRCh38): ENSG00000143614
EnsemblGeneIds (GRCh37): ENSG00000143614
OMIM: 614998, Gene2Phenotype
GATAD2B is in 6 panels
1 review
Chirag Patel (Genetic Health Queensland)
50 patients reported in series in 2020:
- loss-of-function and missense variants
- clinical features of hypotonia, intellectual disability, strabismus, cardiac defects, characteristic facies, childhood apraxia of speech, and macrocephaly.
Sources: LiteratureCreated: 3 Jun 2020, 11:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 18, OMIM # 615074
Publications
- PMID: 31949314
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mental retardation, autosomal dominant 18, OMIM # 615074
- OMIM
- 614998
- Clinvar variants
- Variants in GATAD2B
- Penetrance
- None
- Publications
-
- PMID: 31949314
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gatad2b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: gatad2b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: GATAD2B was added gene: GATAD2B was added to Macrocephaly_Megalencephaly. 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: 31949314 Phenotypes for gene: GATAD2B were set to Mental retardation, autosomal dominant 18, OMIM # 615074 Review for gene: GATAD2B was set to GREEN