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  3. TRIM71
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Hydrocephalus

Gene: TRIM71

Green List (high evidence)
TRIM71 (tripartite motif containing 71)
EnsemblGeneIds (GRCh38): ENSG00000206557
EnsemblGeneIds (GRCh37): ENSG00000206557
TRIM71 is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 14 Mar 2022, 1:52 p.m. | Last Modified: 14 Mar 2022, 1:52 p.m.
Panel Version: 2.127
Created: 14 Mar 2022, 1:52 p.m.
Last Modified: 14 Mar 2022, 1:52 p.m.
Panel version: 2.127

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 17 Jun 2021, 2:35 p.m. | Last Modified: 17 Jun 2021, 2:35 p.m.
Panel Version: 2.109
Comment on publications: PMID: 33077954. 3 additional cases with different variants.
Created: 17 Jun 2021, 2:33 p.m. | Last Modified: 17 Jun 2021, 2:33 p.m.
Panel Version: 2.108
Created: 17 Jun 2021, 2:33 p.m.
Last Modified: 17 Jun 2021, 2:33 p.m.
Panel version: 2.108

Zornitza Stark (Australian Genomics)

Green List (high evidence)

3 unrelated individuals with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child. Functional data.
Sources: Literature
Created: 3 Jun 2020, 10:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hydrocephalus, congenital communicating, 1, MIM# 618667

Publications

Created: 3 Jun 2020, 10:58 a.m.

Panel version: 2.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hydrocephalus, congenital communicating, 1, OMIM:618667
Tags
gene-checked
Clinvar variants
Variants in TRIM71
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: TRIM71.

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: TRIM71.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to TRIM71. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Jun 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TRIM71.

17 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: trim71 has been classified as Amber List (Moderate Evidence).

17 Jun 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633

17 Jun 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1, MIM# 618667 to Hydrocephalus, congenital communicating, 1, OMIM:618667

3 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TRIM71 was added gene: TRIM71 was added to Hydrocephalus. Sources: Literature Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633 Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, MIM# 618667 Review for gene: TRIM71 was set to GREEN