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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. |
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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) |
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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. |
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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 |
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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) |