Hereditary neuropathy or pain disorder

Gene: ITPR3

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 9:32 a.m. | Last Modified: 2 May 2024, 9:32 a.m.

Panel Version: 4.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Green List (high evidence)

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

I don't know

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: Literature

Created: 4 Nov 2020, 2:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease

Publications

• 32949214