Pituitary hormone deficiency
Gene: SIX3
Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review.Created: 22 Sep 2022, 12:40 p.m. | Last Modified: 22 Sep 2022, 12:40 p.m.
Panel Version: 2.96
Associated with Holoprosencephaly 2 (OMIM:157170) in OMIM and as definitive Gen2Phen gene for this phenotype. PMID: 35951005 reports a familiy with children with combined pituitary hormone deficiency, who are heterozygous for variants in SIX3 & POU1F1. Heterozygous Six3 variant mouse models reported in the same paper have pituitary gland dysmorphology and incompletely ossified palate.Created: 22 Sep 2022, 12:39 p.m. | Last Modified: 22 Sep 2022, 12:39 p.m.
Panel Version: 2.95
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. AD - ?COMBINATION WITH OTHER PITUITARY GENES. Bando H, Brinkmeier ML, Castinetti F, Fang Q, Lee MS, Saveanu A, Albarel F, Dupuis C, Brue T, Camper SA.Hum Mol Genet. 2022 Aug 11:ddac192. doi: 10.1093/hmg/ddac192. Online ahead of print.PMID:35951005Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HYPOPITUITARISM
Publications
Comment on list classification: Demoted from amber to red. SIX3 is confirmed to be associated with Holoprosencephaly in OMIM and Gene2Phenotype and is a green gene on the Holoprosencephaly gene panel (Version 1.6). However, there is no evidence that patients with Holoprosencephaly with variants in the SIX3 gene has pituitary hormone deficiency.Created: 14 Dec 2018, 2:26 p.m.
Gene: six3 has been classified as Red List (Low Evidence).
Publications for gene: SIX3 were set to 35951005; 34974160; 32796691
Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2,OMIMM157170 to Holoprosencephaly 2, OMIM:157170; alobar holoprosencephaly, MONDO:0019757
Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 (157170) to Holoprosencephaly 2,OMIMM157170
Publications for gene: SIX3 were set to 35951005
Publications for gene: SIX3 were set to
Ivone Leong: Comment on list classification
Gene: six3 has been classified as Red List (Low Evidence).
gene: SIX3 was added gene: SIX3 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170)