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Intellectual disability

Gene: TFB2M

Red List (low evidence)

TFB2M (transcription factor B2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000162851
EnsemblGeneIds (GRCh37): ENSG00000162851
OMIM: 607055, Gene2Phenotype
TFB2M is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Added to panel based on Genomics of Rare Disease conference, Hinxton, April 2017. Poster P53 presented by Shin-Young et al., investigating the TFB2M (c.790C>T (His264Tyr) variant for intellectual disability. The TFB2M variant was found in a homozygous state in 2 Korean siblings with ID- each copy was inherited from a parent.
Created: 15 Jun 2017, 10:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Intellectual disability
OMIM
607055
Clinvar variants
Variants in TFB2M
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to TFB2M. Panel: Intellectual disability

15 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TFB2M was created by rfoulger

15 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TFB2M was added to Intellectual disabilitypanel. Sources: Other