INSR

insulin receptor
OMIM: 147670, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green INSR in Hyperinsulinism Level 2: Endocrine disorders Version 1.30	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968
Green INSR in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968 Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190
Red INSR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190
Green INSR in Monogenic Diabetes Level 2: Endocrine disorders Version 0.137 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes insulin-resistance syndrome type A MONDO:0012520 Rabson-Mendenhall syndrome MONDO:0009874 Donohue syndrome MONDO:0009517
Green INSR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leprechaunism, 246200 (3)
Green INSR in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Leprechaunism
Green INSR in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190
Green INSR in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Leprechaunism, MIM# 246200
Green INSR in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leprechaunism, 246200 (3)
Red INSR in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968 Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190
Green INSR in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans OMIM 610549 Rabson-Mendenhall syndrome, 262190 Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 Diabetes mellitus, insulin-resistant, with acanthosis nigricans Hyperinsulinemic hypoglycemia, familial, 5, 609968 Leprechaunism, 246200 DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS