IGF1R

insulin like growth factor 1 receptor
OMIM: 147370, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green IGF1R in Silver Russell syndrome Level 3: Growth restriction Level 2: Growth disorders Version 1.12	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Emory Genetics Laboratory Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450
Green IGF1R in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.59	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450
Green IGF1R in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450
No list IGF1R in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Removed NHS GMS Tags curated_removed
Green IGF1R in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450
Red IGF1R in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.179 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450
No list IGF1R in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green IGF1R in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450
Green IGF1R in Growth failure in early childhood Version 3.88 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450
Green IGF1R in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450
Green IGF1R in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Insulin-like growth factor I, resistance to, 270450