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Fetal anomalies

Gene: TAF13

Amber List (moderate evidence)
TAF13 (TATA-box binding protein associated factor 13)
EnsemblGeneIds (GRCh38): ENSG00000197780
EnsemblGeneIds (GRCh37): ENSG00000197780
OMIM: 600774, Gene2Phenotype
TAF13 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Vicki Harrison (Wessex Clinical Genetics Service)

I don't know

AR ID, poor growth and microcephaly. Tawamie et al 2017 - 4 sib paris from 2 consanguineous families. Family one - Low BW, OFC not reported at birth, no malformations, developmental delay, significant microcephaly, MRI delayed myelination, abnormal gyri, suspected pachygyria. Family 2 - preg and delivery normal. ID and microcephaly. Dev delay, febrile seizure, postnatal microcephaly. Ari et al 2025 - two new unrelated patients. ID/microcephaly etc but also 46XY DSD. 1 - atypical genitalia, hypospadius, bilateral cryporchidism, bifid scrotum, MRI brain normal, microcephaly. 2 - low BW, micropenis, hypospadius, microcephaly, PDA
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 60, OMIM:617432

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for Autosomal-Recessive Intellectual Disability and Microcephaly
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 60, OMIM:617432
  • Autosomal-Recessive Intellectual Disability and Microcephaly
OMIM
600774
Clinvar variants
Variants in TAF13
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual developmental disorder, autosomal recessive 60, OMIM:617432 for gene: TAF13

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TAF13 was added gene: TAF13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly