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Hydrocephalus v2.129 TRIM71 Arina Puzriakova Tag gene-checked tag was added to gene: TRIM71.
Hydrocephalus v2.127 TRIM71 Ivone Leong Tag Q2_21_rating was removed from gene: TRIM71.
Hydrocephalus v2.127 TRIM71 Sarah Leigh commented on gene: TRIM71
Hydrocephalus v2.126 TRIM71 Ivone Leong Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.109 TRIM71 Ivone Leong Tag Q2_21_rating tag was added to gene: TRIM71.
Hydrocephalus v2.109 TRIM71 Ivone Leong Classified gene: TRIM71 as Amber List (moderate evidence)
Hydrocephalus v2.109 TRIM71 Ivone Leong Added comment: 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.
Hydrocephalus v2.109 TRIM71 Ivone Leong Gene: trim71 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.108 TRIM71 Ivone Leong Added comment: Comment on publications: PMID: 33077954. 3 additional cases with different variants.
Hydrocephalus v2.108 TRIM71 Ivone Leong Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633
Hydrocephalus v2.107 TRIM71 Ivone Leong Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1, MIM# 618667 to Hydrocephalus, congenital communicating, 1, OMIM:618667
Hydrocephalus v2.5 TRIM71 Zornitza Stark 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
Added comment: 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