DDG2P
Gene: ITPR1
The DDG2P confidence category for the disease Gillespie Syndrome, OMIM:206700 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:27108797).
The DDG2P confidence category for the disease SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27062503;22986007).
The DDG2P confidence category for the disease Gillespie Syndrome, monoallelic, OMIM:206700 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 27108798;27108797).Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 6:05 p.m.
Panel Version: 3.46
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
Publications
Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed Gillespie Syndrome.Created: 11 Jun 2019, 3:22 p.m.
Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for biallelic and monoallelic Gillespie Syndrome. MOI kept as 'both monoallelic and biallelic' .Created: 28 Jan 2019, 2:29 p.m.
Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.Created: 19 Nov 2018, 1:51 p.m.
Multiple MOPs in DD-G2P download: all missense/in frame, dominant negative, loss of function. Multiple MOIs in DD-G2P download: monoallelic and biallelic. Multiple ratings in DD-G2P download: Rated confirmed for monoallelic Gillespie Syndrome and biallelic Gillespie Syndrome. Rated probable for SPINOCEREBELLAR ATAXIA TYPE15 606658 and SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360.Created: 19 Nov 2018, 11:30 a.m.
Phenotypes for gene: ITPR1 were changed from Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
Phenotypes for gene: ITPR1 were changed from Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700 to Gillespie Syndrome, OMIM:206700; Gillespie Syndrome, monoallelic, OMIM:206700; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360
Tag watchlist was removed from gene: ITPR1.
Publications for gene: ITPR1 were updated from 27108798; 27108797 to 27062503; 22986007; 27108797; 27108798
Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome to SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700
Mode of inheritance for gene: ITPR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rebecca Foulger: Multiple MOPs in DD-G2P downlo
Gene: itpr1 has been classified as Green List (High Evidence).
Tag watchlist tag was added to gene: ITPR1.
Added phenotypes Gillespie Syndrome for gene: ITPR1
Added phenotypes Gillespie Syndrome for gene: ITPR1 Publications for gene ITPR1 were changed from 22986007; 27062503 to 27108798; 27108797
Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360 for gene: ITPR1 Publications for gene ITPR1 were changed from 17932120 to 22986007; 27062503
gene: ITPR1 was added gene: ITPR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ITPR1 were set to 17932120 Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 606658