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Intellectual disability

Gene: IGF1R

Green List (high evidence)

IGF1R (insulin like growth factor 1 receptor)
EnsemblGeneIds (GRCh38): ENSG00000140443
EnsemblGeneIds (GRCh37): ENSG00000140443
OMIM: 147370, Gene2Phenotype
IGF1R is in 10 panels

4 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Patients with compound heterozygous/homozygous variants in this gene are reported as having ID, ranging from mild to moderate (26252249). No evidence heterozygous variants cause ID.
Created: 19 Jun 2018, 6:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Resistance to insulin-like growth factor 1 presents with growth restriction (pre-natal onwards). Although some have been noted to have developmental delay this is reportedly mild. Therefore on the current evidence this phenotype is not a clear fit for this panel.
Created: 21 Dec 2017, 11 a.m.
Comment on list classification: Resistance to insulin-like growth factor 1 presents with growth restriction (pre-natal onwards). Although some have been noted to have developmental delay this is reportedly mild. Therefore on the current evidence this phenotype is not a clear fit for this panel.
Created: 21 Dec 2017, 10:59 a.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 6:48 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; neuro_20160418_strict; Loss of function. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:40 p.m.

Mode of inheritance
Unknown

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Amber to Green. After clinical review-ID /delayed cases seem to have biallelic variants (on the whole), so a green rating for biallelic variants would be acceptable. Less convincing evidence for monoallelic setting.
Created: 29 Aug 2018, 3:04 p.m.
Referred to clinical team for review, in view of green review from external clinician, addition of a publication supporting developmental delay in 4 cases (although noted the cases are defined as having Developmental delay/ID), and that gene is currently listed as a diagnostic gene on VCGS intellectual disability panel
Created: 8 Aug 2018, 3:38 p.m.
Comment on publications: added further publications to support gene-disease association and publications suggested from external reviewer
Created: 8 Aug 2018, 3:17 p.m.
from Prontera et al., (2015) PMID: 26252249 : Heterozygous mutations in the IGF1R gene, causing partial resistance to IGFI, have been detected in patients with nonsyndromic IUGR and postnatal growth failure (Kawashima et al., 2005; Wall-born et al., 2010), whereas to date, four patients have now been described harboring biallelic mutations in IGF1R (Abuzzahab et al., 2003; Fang et al., 2012; Gannage-Yared et al., 2013; Prontera et al., (2015). The latter displays a more severe phenotype mainly characterized by IUGR, short stature, developmental and speech delay, microcephaly, facial dysmorphism, heart malformation, and reduced subcutaneous fat. In Prontera et al., (2015) PMID: 26252249 the reported patient shared many clinical (IUGR, short stature, lipodystrophy, microcephaly, developmen-tal delay), dysmorphic, malformative (narrowed pulmonary brancharteries), and metabolic (high triglyceride, calcium, and phosphorus) features with the reported cases.
Created: 8 Aug 2018, 3:14 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 12:05 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Gene2Phenotype confirmed gene with ID HPO
  • Insulin-like growth factor I, resistance to, 270450
  • developmental delay
OMIM
147370
Clinvar variants
Variants in IGF1R
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to IGF1R.

29 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: igf1r has been classified as Green List (High Evidence).

8 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IGF1R were set to Gene2Phenotype confirmed gene with ID HPO; Insulin-like growth factor I, resistance to, 270450; developmental delay

8 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IGF1R were set to 25529582; 26252249; 22130793; 14657428; 23045302

8 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IGF1R were set to Gene2Phenotype confirmed gene with ID HPO; Insulin-like growth factor I, resistance to, 270450; intellectual disability

8 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IGF1R were set to 25529582; 26252249

8 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IGF1R were set to 25529582; 26252249

8 Aug 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IGF1R were set to 25529582; 26252249

8 Aug 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IGF1R were set to Gene2Phenotype confirmed gene with ID HPO; Insulin-like growth factor I, resistance to, 270450

21 Jun 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: IGF1R was changed from Other - please specify in evaluation comments to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: IGF1R was changed from Other - please specify in evaluation comments to BIALLELIC, autosomal or pseudoautosomal

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

IGF1R was created by BRIDGE

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

IGF1R was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene