Congenital hypothyroidism
Gene: IGSF1EnsemblGeneIds (GRCh38): ENSG00000147255
EnsemblGeneIds (GRCh37): ENSG00000147255
OMIM: 300137, Gene2Phenotype
IGSF1 is in 5 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Rated green, >3 unrelated cases from diverse populations and Mode of inheritance supported by literature and reviewer.Created: 14 Feb 2017, 10:25 a.m.
Comment on list classification: Updated rating from Grey to Green. One green review (from gene submitter), Confirmed DD-G2P gene for hypothyroidism (MIM:300888). Plus >3 cases of IGSF1 mutations causing hypothyroidism in multiple populations (including Dutch, Japanese and British).Created: 14 Feb 2017, 10:23 a.m.
Comment on mode of inheritance: OMIM records an XLR inheritance but PMID:24108313 states that a minority of female heterozygous carriers exhibits central hypothyroisim (6 of 18 cases, 33%).Created: 14 Feb 2017, 10:22 a.m.
Nadia Schoenmakers (University of Cambridge)
Affected males all have central hypothyroidism, > 60% have low basal prolactin, ~16% have GH deficiency in childhood and most have macroorchidism in adulthood. 25% females have central hypothyroidism and smaller numbers have hypoprolactinaemia.Created: 11 Feb 2017, 12:52 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
central hypothyroidism; hypoprolactinaemia; GH deficiency; macroorchidism
Publications
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
- Phenotypes
-
- central hypothyroidism
- hypoprolactinaemia
- GH deficiency
- macroorchidism
- Hypothyroidism, central, and testicular enlargement, 300888
- OMIM
- 300137
- Clinvar variants
- Variants in IGSF1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for IGSF1 were set to 23143598; 26840047; 27762734; 24108313 (reports that a subset of female carriers show central hypothyroidism).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for IGSF1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set publications
Rebecca Foulger (Genomics England curator)Publications for IGSF1 were set to 23143598; 26840047; 27762734
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene IGSF1 were set to central hypothyroidism; hypoprolactinaemia; GH deficiency; macroorchidism; Hypothyroidism, central, and testicular enlargement, 300888
Created
Nadia Schoenmakers (University of Cambridge)IGSF1 was created by [email protected]
Added New Source
Nadia Schoenmakers (University of Cambridge)IGSF1 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Literature