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  3. IGSF1
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Congenital hypothyroidism

Gene: IGSF1

Green List (high evidence)
IGSF1 (immunoglobulin superfamily member 1)
EnsemblGeneIds (GRCh38): ENSG00000147255
EnsemblGeneIds (GRCh37): ENSG00000147255
OMIM: 300137, Gene2Phenotype
IGSF1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Central hypothyroidism and testicular enlargement (CHTE) is characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasional transient partial GH deficiency. Some carrier females also exhibit central hypothyroidism and mild prolactin deficiency. Inter- and intrafamilial variability has been observed.

At least 3 unrelated families reported.
Created: 12 Feb 2021, 9:50 a.m. | Last Modified: 12 Feb 2021, 9:50 a.m.
Panel Version: 0.29

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

Phenotypes
Hypothyroidism, central, and testicular enlargement, MIM# 300888

Publications

Created: 12 Feb 2021, 9:50 a.m.
Last Modified: 12 Feb 2021, 9:50 a.m.
Panel version: 0.29

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypothyroidism, central, and testicular enlargement, MIM# 300888
OMIM
300137
Clinvar variants
Variants in IGSF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: igsf1 has been classified as Green List (High Evidence).

12 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia to Hypothyroidism, central, and testicular enlargement, MIM# 300888

12 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598

3 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IGSF1 was added gene: IGSF1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IGSF1 were set to 24108313 (reports that a subset of female carriers show central hypothyroidism).; 26840047; 27762734; 23143598 Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement, 300888; macroorchidism; central hypothyroidism; GH deficiency; hypoprolactinaemia