Pituitary hormone deficiency

Gene: IGSF1

Green List (high evidence)

IGSF1 (immunoglobulin superfamily member 1)
EnsemblGeneIds (GRCh38): ENSG00000147255
EnsemblGeneIds (GRCh37): ENSG00000147255
OMIM: 300137, Gene2Phenotype
IGSF1 is in 6 panels

1 review

Ivone Leong (Genomics England Curator)

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.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Radboud University Medical Center
Phenotypes
  • Hypothyroidism, central, and testicular enlargement (300888)
OMIM
300137
Clinvar variants
Variants in IGSF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: igsf1 has been classified as Green List (High Evidence).

13 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: igsf1 has been classified as Green List (High Evidence).

13 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: IGSF1 were set to

7 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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)