Severe microcephaly
Gene: TAF13
TAF13 (TATA-box binding protein associated factor 13)
EnsemblGeneIds (GRCh38): ENSG00000197780
EnsemblGeneIds (GRCh37): ENSG00000197780
OMIM: 600774, Gene2Phenotype
TAF13 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000197780
EnsemblGeneIds (GRCh37): ENSG00000197780
OMIM: 600774, Gene2Phenotype
TAF13 is in 4 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Ellen McDonagh (Genomics England Curator)
Reported in two independent consanguineous families, each with two children affected by mild intellectual disability and microcephaly.Created: 15 Aug 2017, 2:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 60 617432
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Other
- Literature
- Phenotypes
-
- Mental retardation, autosomal recessive 60 617432
- Tags
- OMIM
- 600774
- Clinvar variants
- Variants in TAF13
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
29 Jul 2019, Gel status: 2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TAF13.
15 Aug 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
15 Aug 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TAF13 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other,Literature
15 Aug 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TAF13 was created by ellenmcdonagh