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Intellectual disability

Gene: TAF1

Green List (high evidence)

TAF1 (TATA-box binding protein associated factor 1)
EnsemblGeneIds (GRCh38): ENSG00000147133
EnsemblGeneIds (GRCh37): ENSG00000147133
OMIM: 313650, Gene2Phenotype
TAF1 is in 9 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases. Gene also linked with dystonia/parkinsonism phenotype however, this is caused by a tandem repeat expansion. Cases with ID are missense and gene rearrangements to date.
Created: 14 Nov 2017, 10:43 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: XLR MOI is confirmed by OMIM.
Created: 31 Oct 2017, 11:07 a.m.
Hu et al. 2015 (PMID:25644381) identify TAF1 as a candidate gene for ID on the basis of segregation of missense variants in two different pedigrees. >3 unrelated cases linking TAF1 variants to an ID/global developmental delay phenotype are reported in PMID:26637982 (2015). Based on PMID:26637982, TAF1 is a confirmed DD-G2P gene for the disease 'Dysmorphic Features, Intellectual Disability, and Neurological Manifestations'.
Created: 31 Oct 2017, 9:23 a.m.

Phenotypes
Mental retardation, X-linked, syndromic 33, 300966; global developmental delay; intellectual disability

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:37 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : find_uk10k; gilissen_2014_candidate; manju_list; GEL_ID_red_20160217; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

  • 25529582
  • Personal communication with NIHRBRRD BRIDGE SPEED

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Mental retardation, X-linked, syndromic 33, 300966
  • global developmental delay
  • intellectual disability
OMIM
313650
Clinvar variants
Variants in TAF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to TAF1.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

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.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to TAF1. Panel: Intellectual disability Model of inheritance for gene TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene TAF1 was set to ['26637982', ' 25644381', ' 26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TAF1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TAF1 was created by ellenmcdonagh