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| Pituitary hormone deficiency v2.65 | FAT2 | Sarah Leigh edited their review of gene: FAT2: Added comment: Not associated with a pituitary phenotype in OMIM, Gen2Phen or MONDO. PMID: 33108146 reports four FAT2 variants in four unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). However, one of these variants (rs1024234841) is synonymous and in silico tools do not predict an effect on splicing and another variant (rs377026428) is digenic with a DCHS2 variant and so its contribution to disease causation is uncertain.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.24 | DCHS2 | Sarah Leigh Tag watchlist tag was added to gene: DCHS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.24 | DCHS2 | Sarah Leigh Classified gene: DCHS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.24 | DCHS2 | Sarah Leigh Added comment: Comment on list classification: There is not enough evidence for this gene to be rated GREEN at the next major review. However, this may change if further DCHS2 variants are found in cases of pituitary stalk interruption syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.24 | DCHS2 | Sarah Leigh Gene: dchs2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.23 | DCHS2 | Sarah Leigh edited their review of gene: DCHS2: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 33108146 reports three DCHS2 variants in three unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). However, one of these variants is digenic with a FAT2 variant and so its contribution to disease causation is uncertain. A Dchs2–/– mouse model has been examined and has defects in hypothalamic-pituitary development, but the phenotype is not consistent with the human condition.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.23 | DCHS2 | Sarah Leigh Classified gene: DCHS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.23 | DCHS2 | Sarah Leigh Gene: dchs2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.22 | DCHS2 | Sarah Leigh Mode of inheritance for gene: DCHS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.19 | DCHS2 | Sarah Leigh Publications for gene: DCHS2 were set to 29165578; 33108146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.18 | DCHS2 | Sarah Leigh Added comment: Comment on phenotypes: This Mondo term is a general description and not specific to a conidition associated with DCHS2 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.18 | DCHS2 | Sarah Leigh Phenotypes for gene: DCHS2 were changed from pituitary stalk interruption syndrome, MONDO:0019828 to pituitary stalk interruption syndrome, MONDO:0019828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.17 | DCHS2 | Sarah Leigh Phenotypes for gene: DCHS2 were changed from to pituitary stalk interruption syndrome, MONDO:0019828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.16 | DCHS2 | Sarah Leigh Publications for gene: DCHS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.15 | DCHS2 | Eleanor Williams reviewed gene: DCHS2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: PSIS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.14 | DCHS2 |
Eleanor Williams gene: DCHS2 was added gene: DCHS2 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: DCHS2 was set to |
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