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Hereditary neuropathy NOT PMP22 copy number

Gene: ITPR3

No list

ITPR3 (inositol 1,4,5-trisphosphate receptor type 3)
EnsemblGeneIds (GRCh38): ENSG00000096433
EnsemblGeneIds (GRCh37): ENSG00000096433
OMIM: 147267, Gene2Phenotype
ITPR3 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Charcot-Marie-Tooth disease
OMIM
147267
Clinvar variants
Variants in ITPR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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