Aniridia

Gene: ITPR1

Green List (high evidence)

ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 15 panels

1 review

Morag Shanks (Oxford Medical Genetics laboratory)

Green List (high evidence)

Gillespie syndrome - pathognomonic iris anomoly, absence of pars pupillaris, partial aniridia.
Created: 20 Mar 2019, 5:02 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Gillespie syndrome 206700

Publications

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ITPR1 were changed from Gillespie syndrome 206700 to Gillespie syndrome, OMIM:206700

20 Mar 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ITPR1 were set to

20 Mar 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ITPR1 was added gene: ITPR1 was added to Aniridia. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ITPR1 were set to Gillespie syndrome 206700