IRS1

insulin receptor substrate 1
OMIM: 147545, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber IRS1 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.11

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic disease, MONDO: 0002254, IRS1-related

Amber IRS1 in Mendeliome


Version 2.588

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic disease, MONDO: 0002254, IRS1-related

Amber IRS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.145

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic disease, MONDO: 0002254, IRS1-related

Red IRS1 in Additional findings_Paediatric


Level 2: Screening
Version 1.1

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Diabetes mellitus, noninsulin dependent

Amber IRS1 in Growth failure


Version 2.28

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic disease, MONDO: 0002254, IRS1-related

Amber IRS1 in Fetal anomalies


Version 2.81

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Syndromic disease, MONDO: 0002254, IRS1-related

Red IRS1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.7

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Diabetes mellitus, noninsulin dependent