Cataract
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cataracts reported but not a prominent feature, megalocornea and Rieger anomaly are the more typical findings.Created: 8 Jul 2020, 8:02 a.m. | Last Modified: 8 Jul 2020, 8:02 a.m.
Panel Version: 0.211
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome, MIM# 269880
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- SHORT syndrome, MIM# 269880
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Glaucoma congenital
- Monogenic Diabetes
- Ciliary Dyskinesia
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Vascular Malformations_Germline
- Vascular Malformations_Somatic
- Skeletal dysplasia
- Fetal anomalies
- Lipodystrophy_Lipoatrophy
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pik3r1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PIK3R1 was added gene: PIK3R1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PIK3R1 was set to Unknown