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Pituitary hormone deficiency v2.106 IGSF1 Catherine Snow Tag Q3_22_MOI was removed from gene: IGSF1.
Tag Q3_22_NHS_review was removed from gene: IGSF1.
Pituitary hormone deficiency v2.106 IGSF1 Catherine Snow commented on gene: IGSF1
Pituitary hormone deficiency v2.105 IGSF1 Catherine Snow 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)
Pituitary hormone deficiency v2.50 IGSF1 Eleanor Williams Tag Q3_22_MOI tag was added to gene: IGSF1.
Tag Q3_22_NHS_review tag was added to gene: IGSF1.
Pituitary hormone deficiency v2.50 IGSF1 Eleanor Williams Added comment: 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 disease
Pituitary hormone deficiency v2.50 IGSF1 Eleanor Williams 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
Pituitary hormone deficiency v2.49 IGSF1 Eleanor Williams edited their review of gene: IGSF1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v2.49 IGSF1 Eleanor Williams edited their review of gene: IGSF1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pituitary hormone deficiency v2.49 IGSF1 Eleanor Williams Phenotypes for gene: IGSF1 were changed from Hypothyroidism, central, and testicular enlargement (300888) to Hypothyroidism, central, and testicular enlargement, OMIM:300888
Pituitary hormone deficiency v2.15 IGSF1 Eleanor Williams reviewed gene: IGSF1: Rating: ; Mode of pathogenicity: ; Publications: 23143598; Phenotypes: MACRO-ORCHIDISM, TSH, GH AND PROLACTIN DEFICIENCIES,; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pituitary hormone deficiency v0.71 IGSF1 Ivone Leong commented on gene: IGSF1: 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.
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Marked gene: IGSF1 as ready
Pituitary hormone deficiency v0.65 IGSF1 Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Classified gene: IGSF1 as Green List (high evidence)
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Added comment: 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.
Pituitary hormone deficiency v0.45 IGSF1 Ivone Leong Gene: igsf1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.44 IGSF1 Ivone Leong Publications for gene: IGSF1 were set to
Pituitary hormone deficiency v0.5 IGSF1 Ivone Leong 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)