Growth failure
Gene: PIK3R1EnsemblGeneIds (GRCh38): ENSG00000145675
EnsemblGeneIds (GRCh37): ENSG00000145675
OMIM: 171833, Gene2Phenotype
PIK3R1 is in 17 panels
1 review
Chirag Patel (Genetic Health Queensland)
Short syndrome: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. Also there is a recognisable facial gestalt (triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella), and near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Both developmental milestones and cognition are normal for individuals with SHORT syndrome.
Thauvin-Robinet et al. (2013) reported 9 patients from 8 families with SHORT syndrome with heterozygous variants in PIK3R1. Further 2 families reported by Chudasama et al. (2013) and 3 families reported by Dyment et al. (2013). More cases reported in 2020-2021.Created: 17 Aug 2021, 10:51 p.m. | Last Modified: 17 Aug 2021, 10:51 p.m.
Panel Version: 0.168
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHORT syndrome, OMIM # 269880
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- SHORT syndrome, OMIM # 269880
- OMIM
- 171833
- Clinvar variants
- Variants in PIK3R1
- Penetrance
- None
- Publications
- 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 Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIK3R1 were changed from SHORT syndrome, 269880; SHORT to SHORT syndrome, OMIM # 269880
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PIK3R1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PIK3R1 was added gene: PIK3R1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3R1 were set to SHORT syndrome, 269880; SHORT