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  2. Hydrocephalus_Ventriculomegaly
  3. TRIM71
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Hydrocephalus_Ventriculomegaly

Gene: TRIM71

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29983323 - 3 unrelated patients with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child.

PMID: 32168371 - refers to the gene as an established sources of neurodevelopmental disorder

PMID: 30975633 - identifies and proves by functional studies that TRIM71 is essential for neurodevelopment. Proposes a LOF mechanism.
Sources: Literature
Created: 1 Jun 2020, 4:45 a.m.

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

Phenotypes
Hydrocephalus, congenital communicating, 1 618667

Publications

Mode of pathogenicity
Other

Created: 1 Jun 2020, 4:45 a.m.

Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydrocephalus, congenital communicating, 1 618667
Clinvar variants
Variants in TRIM71
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trim71 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TRIM71 was changed from Other to None

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trim71 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: TRIM71 was added gene: TRIM71 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRIM71 were set to PMID: 29983323; 32168371; 30975633 Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1 618667 Mode of pathogenicity for gene: TRIM71 was set to Other Review for gene: TRIM71 was set to GREEN