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Intellectual disability syndromic and non-syndromic

Gene: IGF1

Green List (high evidence)

IGF1 (insulin like growth factor 1)
EnsemblGeneIds (GRCh38): ENSG00000017427
EnsemblGeneIds (GRCh37): ENSG00000017427
OMIM: 147440, Gene2Phenotype
IGF1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Woods et al. (1996) reported a patient with with severe IUGR and postnatal growth retardation and a homozygous deletion in the IGF1 gene. Both parents were heterozygous for the deletion, and the mother and father were 154 cm and 163 cm tall, suggesting their short stature and borderline low serum IGF1 concentrations might represent a heterozygous effect. Similar findings in many patients since.

Heterozygous IGF1 gene defects have been reported as a cause of mild and severe short stature. Staels et al (2021) reported heterozygous IGF1 deletions in 5 patients with short stature, microcephaly, and small for gestational age diagnosed with IGF1 haploinsufficiency. Fuqua et al. (2012) identified a heterozygous IGF1 splicing variant in a family with 5 affected people with severe short stature.
Created: 18 Aug 2021, 4:23 a.m. | Last Modified: 18 Aug 2021, 4:23 a.m.
Panel Version: 0.4063

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747
OMIM
147440
Clinvar variants
Variants in IGF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igf1 has been classified as Green List (High Evidence).

18 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IGF1 were changed from to Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747

18 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGF1 were set to

18 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IGF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGF1 was added gene: IGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF1 was set to Unknown