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  2. Hereditary Neuropathy_CMT - isolated
  3. ITPR3
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Hereditary Neuropathy_CMT - isolated

Gene: ITPR3

Green List (high evidence)
ITPR3 (inositol 1,4,5-trisphosphate receptor type 3)
EnsemblGeneIds (GRCh38): ENSG00000096433
EnsemblGeneIds (GRCh37): ENSG00000096433
OMIM: 147267, Gene2Phenotype
ITPR3 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional family with 3 individuals in 2 generations reported in PMID 24627108.
Created: 4 Nov 2022, 9:26 p.m. | Last Modified: 4 Nov 2022, 9:26 p.m.
Panel Version: 1.21
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: 2 Nov 2020, 4:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111

Publications

Mode of pathogenicity
Other

Created: 2 Nov 2020, 4:30 a.m.

Panel version: 1.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111
OMIM
147267
Clinvar variants
Variants in ITPR3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITPR3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, demyelinating, type 1J, MIM# 620111

4 Nov 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITPR3 were set to 32949214

4 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpr3 has been classified as Green List (High Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpr3 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itpr3 has been classified as Amber List (Moderate Evidence).

2 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITPR3 was added gene: ITPR3 was added to Hereditary Neuropathy_CMT - isolated. 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 Mode of pathogenicity for gene: ITPR3 was set to Other Review for gene: ITPR3 was set to AMBER