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Intellectual disability

Gene: TGFBR2

Red List (low evidence)

TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 15 panels

4 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Phenotypes
LOEYS-DIETZ SYNDROME

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Although categorised as a 'known ID gene' in PMID:24896178 (Gilissen et al., 2014), TGFBR2 variants are not recorded in De Ligt et al., 2012 (PMID:23033978) on which some of the Gilissen lists are based. DD and mental retardation are uncommon phenotypes of Loyes-Dietz syndrome 2 (caused by variants in TGFBR2). Discussed with clinical team and Helen Brittain agrees that although ID can be present, it is not common and is often mild.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Loeys-Dietz syndrome 2, 610168

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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

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

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene TGFBR2 was set to ['24896178', ' 17979970']

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFBR2 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TGFBR2 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen