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Newborns main panel

Gene: IRS4

Green List (high evidence)
IRS4 (insulin receptor substrate 4)
EnsemblGeneIds (GRCh38): ENSG00000133124
EnsemblGeneIds (GRCh37): ENSG00000133124
OMIM: 300904, Gene2Phenotype
IRS4 is in 1 panel

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID:30061370 (5 families, 4 variants) PMID: 34093435 (1 family) PMID: 36860195 - 8 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team. Mafalda Gomes comment: No affected females.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hypothyroidism, congenital, nongoitrous, 9

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Hypothyroidism, congenital, nongoitrous, 9
OMIM
300904
Clinvar variants
Variants in IRS4
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, nongoitrous, 9 for gene: IRS4

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to IRS4. Added phenotypes Hypothyroidism, congenital, nongoitrous, 9 for gene: IRS4 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to IRS4. Added phenotypes Hypothyroidism, congenital, nongoitrous, 9 for gene: IRS4 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to IRS4. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, congenital, nongoitrous, 9 for gene: IRS4

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IRS4 was added gene: IRS4 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: IRS4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females