Microcephaly
Gene: TAF2EnsemblGeneIds (GRCh38): ENSG00000064313
EnsemblGeneIds (GRCh37): ENSG00000064313
OMIM: 604912, Gene2Phenotype
TAF2 is in 3 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
Report of 4 individuals from 2 unrelated families, with severe intellectual disability, global developmental delay, postnatal microcephaly, feet deformities and thin corpus callosum. They had homozygous TAF2 missense variants detected by Exome Sequencing.Created: 17 Sep 2021, 4 a.m. | Last Modified: 17 Sep 2021, 4 a.m.
Panel Version: 1.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 40; OMIM # 615599
Publications
- PMID: 34474177
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated families reported with homozygous missense variants, also identified as a candidate gene in PMID 26350204.Created: 29 Feb 2020, 7:29 a.m. | Last Modified: 29 Feb 2020, 7:29 a.m.
Panel Version: 0.85
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 40, MIM# 615599
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mental retardation, autosomal recessive 40, MIM# 615599
- OMIM
- 604912
- Clinvar variants
- Variants in TAF2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TAF2 were set to 21937992; 22633631; 26350204
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: taf2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: taf2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taf2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TAF2 were changed from to Mental retardation, autosomal recessive 40, MIM# 615599
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TAF2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: taf2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TAF2 was added gene: TAF2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TAF2 was set to Unknown