Intellectual disability - microarray and sequencing
Gene: TAF2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: There is sufficient evidence (at least 4 unrelated cases) for this gene to be promoted to GREEN at the next major review.Created: 17 Apr 2023, 12:07 p.m. | Last Modified: 17 Apr 2023, 12:07 p.m.
Panel Version: 5.60
PMID:21937992 reported an individual with intellectual disability exhibiting p.Trp649Arg variant in TAF2 gene.
Exam sequencing of one affected individual presenting with microcephaly, pyramidal signs, thin corpus callosum, and intellectual disability in PMID:24084144 identified two homozygous missense variants (p.Thr186Arg & p.Pro416His) in TAF2.
PMID:34474177 reported four individuals from two unrelated families identified with homozygous TAF2 missense variants and presenting with severe intellectual disability and global developmental delay, postnatal microcephaly, feet deformities and thin corpus callosum.
This gene has also been associated with relevant phenotypes in both OMIM (MIM #615599) and Gene2Phenotype (with 'limited' rating).Created: 17 Apr 2023, 12:01 p.m. | Last Modified: 17 Apr 2023, 12:01 p.m.
Panel Version: 5.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 40, OMIM:615599
Publications
Four unrelated families reported now.Created: 9 Oct 2021, 8:03 a.m. | Last Modified: 9 Oct 2021, 8:03 a.m.
Panel Version: 3.1332
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 40; OMIM # 615599
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION
Publications
Variants from PMID:24084144 are listed in OMIM as 'variants of unknown significance'. Listed as a candidate ID gene in PMID:26350204 but insufficient cases to rate as diagnostic grade.Created: 31 Oct 2017, 9:24 a.m.
Phenotypes
Mental retardation, autosomal recessive 40, 615599
Publications
Phenotypes for gene: TAF2 were changed from Mental retardation, autosomal recessive 40, 615599 to Mental retardation, autosomal recessive 40, OMIM:615599
Tag Q2_23_promote_green was removed from gene: TAF2.
Source NHS GMS was added to TAF2. Source Expert Review Green was added to TAF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: taf2 has been classified as Amber List (Moderate Evidence).
Gene: taf2 has been classified as Amber List (Moderate Evidence).
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Tag Q2_23_promote_green tag was added to gene: TAF2.
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Gene: taf2 has been classified as Amber List (Moderate Evidence).
Gene: taf2 has been classified as Amber List (Moderate Evidence).
Gene: taf2 has been classified as Amber List (Moderate Evidence).
Gene: taf2 has been classified as Amber List (Moderate Evidence).
Gene: taf2 has been classified as Amber List (Moderate Evidence).
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Publications for gene: TAF2 were set to 21937992; 22633631; 24084144; 26350204; 34474177
Publications for gene: TAF2 were set to 21937992; 24084144; 26350204
Source Victorian Clinical Genetics Services was added to TAF2.
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
Publications for gene TAF2 was set to ['21937992', ' 24084144', ' 26350204']
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
TAF2 was created by ellenmcdonagh
TAF2 was added to Intellectual disabilitypanel. Sources: Expert Review Red