Sporadic aniridia
Gene: ITPR1
ITPR1 (inositol 1,4,5-trisphosphate receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000150995
EnsemblGeneIds (GRCh37): ENSG00000150995
OMIM: 147265, Gene2Phenotype
ITPR1 is in 13 panels
1 review
Morag Shanks (Oxford Medical Genetics laboratory)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- Phenotypes
-
- Gillespie syndrome, OMIM:206700
- OMIM
- 147265
- Clinvar variants
- Variants in ITPR1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
- Sporadic aniridia
- DDG2P
- Cerebellar hypoplasia
- Structural eye disease
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
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