Monogenic hearing loss
Gene: IGF1EnsemblGeneIds (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
- PMID:10022403
- 10359843
- 10377413
- 10404791
- 10448861
- 10448862
- 10770205
- 11035789
- 11095464
- 11113840
- 11167121
- 11175789
- 11331770
- 11751603
- 11927606
- 11937187
- 12050240
- 12062094
- 12208249
- 12415260
- 12714661
- 12915659
- 14557458
- 14657423
- 14684690
- 1486331
- 1508245
- 15085194
- 15769976
- 16123266
- 16642022
- 17412960
- 17827385
- 17827393
- 17911177
- 1791841
- 1879059
- 18977203
- 1955101
- 1975791
- 2004558
- 20097678
- 20110993
- 21148390
- 2394448
- 2450744
- 2508389
- 26516283
- 2935423
- 2937782
- 2982726
- 3455760
- 3467309
- 3486749
- 4550398
- 6232133
- 632300
- 6358902
- 6382023
- 6382024
- 6572973
- 7188854
- 7189195
- 7350184
- 7565946
- 8276243
- 8391647
- 8402901
- 8402902
- 8857020
- 8958230
- 9371800
- 9435420
- 9593403
- 9593409
Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert
- Phenotypes
-
- Insulin-like growth factor I deficiency, OMIM:608747
- OMIM
- 147440
- Clinvar variants
- Variants in IGF1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: IGF1 were changed from Growth retardation with deafness and mental retardation due to IGF1 deficiency,608747; GrowthretardationwithdeafnessandmentalretardationduetoIGF1deficiency,608747 to Insulin-like growth factor I deficiency, OMIM:608747
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
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