Identity
HGNC
LOCATION
Xq26.1
LOCUSID
ALIAS
CHTE,IGCD1,IGDC1,INHBP,PGSF2,p120
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3547
MIM: 300137
HGNC: 5948
Ensembl: ENSG00000147255
Variants:
dbSNP: 3547
ClinVar: 3547
TCGA: ENSG00000147255
COSMIC: IGSF1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36854408 | 2023 | [Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants]. | 0 |
| 36854408 | 2023 | [Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants]. | 0 |
| 35350016 | 2022 | Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family. | 1 |
| 35456429 | 2022 | Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations. | 1 |
| 36201163 | 2022 | IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. | 0 |
| 36464600 | 2022 | IGSF1 mutation as a cause of isolated central hypothyroidism. | 0 |
| 35350016 | 2022 | Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family. | 1 |
| 35456429 | 2022 | Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations. | 1 |
| 36201163 | 2022 | IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. | 0 |
| 36464600 | 2022 | IGSF1 mutation as a cause of isolated central hypothyroidism. | 0 |
| 31650157 | 2020 | IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction. | 16 |
| 31650157 | 2020 | IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction. | 16 |
| 31504637 | 2019 | Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review. | 9 |
| 31504637 | 2019 | Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review. | 9 |
| 26387489 | 2016 | Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome. | 9 |
Citation
Dessen P
IGSF1 (immunoglobulin superfamily member 1)
Atlas Genet Cytogenet Oncol Haematol. 2015-08-01
Online version: http://atlasgeneticsoncology.org/gene/55381/igsf1-(immunoglobulin-superfamily-member-1)
