Hereditary neuropathy or pain disorder
Gene: ITPR3
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 20 Jun 2023, 5:20 p.m. | Last Modified: 20 Jun 2023, 5:20 p.m.
Panel Version: 3.35
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMIDs 24627108 & 32949214 report three ITPR3 variants in three unrelated cases. Segregation of the NM_002224.4, c.1843G> A (p.Val615Met) variant is observed is members of a Finnish family described in PMID: 32949214.Created: 20 Jun 2023, 5:19 p.m. | Last Modified: 20 Jun 2023, 5:19 p.m.
Panel Version: 3.34
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Two unrelated families reported: variant segregated in four affected individuals in one family and was de novo in the second family where there was a single affected person. Some evidence for dominant-negative effect.
Sources: LiteratureCreated: 4 Nov 2020, 2:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease
Publications
Gene: itpr3 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: ITPR3.
Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, OMIM:620111
Publications for gene: ITPR3 were set to 32949214
Gene: itpr3 has been classified as Amber List (Moderate Evidence).
gene: ITPR3 was added gene: ITPR3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITPR3 were set to 32949214 Phenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease Review for gene: ITPR3 was set to AMBER