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Intellectual disability

Gene: TRIM37

Red List (low evidence)

TRIM37 (tripartite motif containing 37)
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 14 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: This is a confirmed gene in G2P but in the literature ID is not predominant phenotype associated to Mulibrey nanism- this gene was probably made green automatically as it was in the BRIDGE ID list and was a confirmed gene in G2P that lists ID as one of the phenotypes. Down graded further after internal clinical review who also confirmed that intellectual disability is not part of the phenotype. There are other syndromic features that should warrant detection via other panels, therefore based on the current evidence, would agree with red rating.
Created: 20 Jul 2018, 11:57 a.m.
Comment on list classification: Changed from Green to Amber until more info on gene and disease association. Raised by external review that there not enough evidence to support this gene remaining Green on the ID panel. Request evidences / immunological association of this gene from NIHRRDBR BRIDGE project. Although this gene is listed in G2P as a confirmed DD gene, there is not enough evidence in the literature to support ID as a main phenotype of Mulibrey Nanism.
Created: 16 Jul 2018, 3:44 p.m.
Gene reviewed after external review comment. Although this is a confirmed loss of function gene for MULIBREY NANISM in Gene2Phenotype, ID is not a predominant phenotype of Mulibrey nanism. Large cerebral ventricles in the brain and delayed motor development are uncommon findings, most affected individuals have normal intelligence
Created: 16 Jul 2018, 3:27 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Not convinced this condition is associated with ID.
Created: 21 Jun 2018, 1:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MULIBREY NANISM

Publications

  • 0

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 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:46 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function. 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, 1:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Confirmed DD gene
Created: 8 Feb 2016, 1:49 a.m.

History Filter Activity

20 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: trim37 has been classified as Red List (Low Evidence).

16 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: trim37 has been classified as Amber List (Moderate Evidence).

16 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TRIM37 were set to MULIBREY NANISM; MUL; Muscle-liver-brain-eye nanism

12 Mar 2018, Gel status: 3

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.

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

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)

TRIM37 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TRIM37 was created by ellenmcdonagh