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Newborns main panel

Gene: IGSF1

Green List (high evidence)
IGSF1 (immunoglobulin superfamily member 1)
EnsemblGeneIds (GRCh38): ENSG00000147255
EnsemblGeneIds (GRCh37): ENSG00000147255
OMIM: 300137, Gene2Phenotype
IGSF1 is in 5 panels

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
IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management - PubMed (nih.gov)
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: Some carrier females also exhibit central hypothyroidism and mild prolactin deficiency. Female carriers showed low (18%) or low-normal (60%) FT4; no evident relationship with X-chromosome inactivation was observed. In OMIM looks like 5-10% of female carriers exhibit central hypothyroidism.
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, central, and testicular enlargement

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, central, and testicular enlargement
OMIM
300137
Clinvar variants
Variants in IGSF1
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, central, and testicular enlargement for gene: IGSF1

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 IGSF1. Added phenotypes Hypothyroidism, central, and testicular enlargement for gene: IGSF1 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 IGSF1. Added phenotypes Hypothyroidism, central, and testicular enlargement for gene: IGSF1 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypothyroidism, central, and testicular enlargement for gene: IGSF1

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: IGSF1 was added gene: IGSF1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females