Hydrocephalus
Gene: TRIM71The 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
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
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: LiteratureCreated: 3 Jun 2020, 10:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hydrocephalus, congenital communicating, 1, MIM# 618667
Publications
Tag gene-checked tag was added to gene: TRIM71.
Tag Q2_21_rating was removed from gene: TRIM71.
Source Expert Review Green was added to TRIM71. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: TRIM71.
Gene: trim71 has been classified as Amber List (Moderate Evidence).
Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633
Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1, MIM# 618667 to Hydrocephalus, congenital communicating, 1, OMIM:618667
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