Hydrocephalus
Gene: TCIRG1The 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 in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 14 Oct 2021, 12:25 p.m. | Last Modified: 14 Oct 2021, 12:25 p.m.
Panel Version: 2.117
Hydrocephalus is a reported part of the phenotype.
Sources: Expert listCreated: 8 Aug 2020, 2:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 1, MIM# 259700
Tag Q4_21_rating was removed from gene: TCIRG1.
Source Expert Review Green was added to TCIRG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: TCIRG1.
Publications for gene: TCIRG1 were set to
Gene: tcirg1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, MIM# 259700 to Osteopetrosis, autosomal recessive 1, OMIM:259700
gene: TCIRG1 was added gene: TCIRG1 was added to Hydrocephalus. Sources: Expert list Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, MIM# 259700 Review for gene: TCIRG1 was set to GREEN