Pituitary hormone deficiency
Gene: IGSF1The mode of inheritance of this gene has been updated toX-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 3:01 p.m.
Panel Version: 2.106
Comment on mode of inheritance: Heterozygous female carriers may show a phenotype related to the pituitary gland. In PMID: 24108313 (Joustra et al 2013) they report 6 females were biochemically hypothyroid, and 2 were prolactin deficient. (hypothyroid is linked to decreased function of the pituitary gland and prolactin is produced in the pituitary gland). PMID: 30086211 (Roche et al 2018) also report a heterozygous female with central hypothyroidism.
Therefore it is proposed to change the mode of inheritance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause diseaseCreated: 17 Sep 2022, 4:46 p.m. | Last Modified: 17 Sep 2022, 4:46 p.m.
Panel Version: 2.50
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ.Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11.PMID:23143598Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
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
MACRO-ORCHIDISM, TSH, GH AND PROLACTIN DEFICIENCIES,
Publications
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 12:03 p.m.
Comment on list classification: Promoted from red to green. IGSF1 is confirmed to be associated with Hypothyroidism, central, and testicular enlargement in OMIM and Gene2Phenotypes. It is a green gene in the Congenital hypothyroidism panel (Version 1.4). There are >3 unrelated cases of patients with variants in IGSF1 who have pituitary hormone deficiency.Created: 13 Dec 2018, 12:13 p.m.
Tag Q3_22_MOI was removed from gene: IGSF1. Tag Q3_22_NHS_review was removed from gene: IGSF1.
Source NHS GMS was added to IGSF1. Mode of inheritance for gene IGSF1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Tag Q3_22_MOI tag was added to gene: IGSF1. Tag Q3_22_NHS_review tag was added to gene: IGSF1.
Mode of inheritance for gene: IGSF1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, OMIM:300888
Ivone Leong: Comment on list classification
Gene: igsf1 has been classified as Green List (High Evidence).
Gene: igsf1 has been classified as Green List (High Evidence).
Publications for gene: IGSF1 were set to
gene: IGSF1 was added gene: IGSF1 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888)