Pituitary hormone deficiency
Gene: IGSF1EnsemblGeneIds (GRCh38): ENSG00000147255
EnsemblGeneIds (GRCh37): ENSG00000147255
OMIM: 300137, Gene2Phenotype
IGSF1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 9:57 a.m. | Last Modified: 12 Feb 2021, 9:57 a.m.
Panel Version: 0.9
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
Hypothyroidism, central, and testicular enlargement, MIM# 300888
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: igsf1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, MIM# 300888
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: IGSF1 was added gene: IGSF1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IGSF1 were set to 23143598; 23966245; 26302767 Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888)