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Hearing loss

Gene: IGF1

Red List (low evidence)

IGF1 (insulin like growth factor 1)
EnsemblGeneIds (GRCh38): ENSG00000017427
EnsemblGeneIds (GRCh37): ENSG00000017427
OMIM: 147440, Gene2Phenotype
IGF1 is in 9 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#608747:Growth retardation with deafness and mental retardation due to IGF1 deficiency[Short stature; Low weight; Intrauterine growth retardationPoor growth; Microcephaly; Micrognathia; Deafness, sensorineural; Ptosis; Delayed bone ageOsteopenia; Clinodactyly; Delayed motor developmentMental retardation; HyperactivityShort attention span; Increased serum growth hormoneDecreased serum insulin-like growth factor-1 (IGF1)]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency,608747
  • GrowthretardationwithdeafnessandmentalretardationduetoIGF1deficiency,608747
OMIM
147440
Clinvar variants
Variants in IGF1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IGF1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IGF1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert,Radboud University Medical Center, Nijmegen