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| Mendeliome v0.14429 | MC2R | Zornitza Stark Phenotypes for gene: MC2R were changed from to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14426 | MC2R | Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: 8094489, 8227361; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13745 | CTHRC1 | Ain Roesley Marked gene: CTHRC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13745 | CTHRC1 | Ain Roesley Gene: cthrc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13745 | CTHRC1 | Ain Roesley Phenotypes for gene: CTHRC1 were changed from to Barrett esophagus/esophageal adenocarcinoma MIM#614266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13745 | CTHRC1 | Ain Roesley Publications for gene: CTHRC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13744 | CTHRC1 | Ain Roesley Classified gene: CTHRC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13744 | CTHRC1 | Ain Roesley Gene: cthrc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13743 | CTHRC1 | Ain Roesley reviewed gene: CTHRC1: Rating: RED; Mode of pathogenicity: None; Publications: 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma MIM#614266; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8654 | NFKB2 | Zornitza Stark Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8638 | NFKB2 | Danielle Ariti reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140114, 24888602, 25524009, 31417880; Phenotypes: Immunodeficiency, common variable, 10 MIM# 615577, Low serum IgG, IgA, IgM, low B cell numbers, low switched memory B cells, Recurrent sinopulmonary infections, Alopecia, endocrinopathies, ACTH deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6265 | CTH | Zornitza Stark Marked gene: CTH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6265 | CTH | Zornitza Stark Gene: cth has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6265 | CTH | Zornitza Stark Phenotypes for gene: CTH were changed from to Cystathioninuria MIM#219500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6264 | CTH | Zornitza Stark Publications for gene: CTH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6263 | CTH | Zornitza Stark Mode of inheritance for gene: CTH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6262 | CTH | Zornitza Stark Classified gene: CTH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6262 | CTH | Zornitza Stark Gene: cth has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6261 | CTH | Zornitza Stark reviewed gene: CTH: Rating: AMBER; Mode of pathogenicity: None; Publications: 12574942, 20584029, 24761004, 15151507; Phenotypes: Cystathioninuria MIM#219500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2965 | USP8 |
Bryony Thompson gene: USP8 was added gene: USP8 was added to Mendeliome. Sources: Expert list somatic tags were added to gene: USP8. Mode of inheritance for gene: USP8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: USP8 were set to 25675982; 24482476; 25485838; 25942478 Phenotypes for gene: USP8 were set to Pituitary adenoma 4, ACTH-secreting, somatic MIM#219090; hereditary spastic paraplegia Review for gene: USP8 was set to GREEN Added comment: Recurrent somatic gain of function missense variants in pituitary adenomas cause Cushing's disease. A single family reported with spastic paraplegia with a homozygous variant, and a zebrafish model with a movement disorder. Sources: Expert list |
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| Mendeliome v0.2392 | GNAI2 |
Elena Savva gene: GNAI2 was added gene: GNAI2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNAI2 were set to PMID: 31036916 Phenotypes for gene: GNAI2 were set to Pituitary adenoma, ACTH-secreting, somatic; Ventricular tachycardia, idiopathic 192605; Syndromic developmental disorder Review for gene: GNAI2 was set to AMBER Added comment: Papers associating this gene to tachycardia are very old (pre 2000, OMIM). PMID: 31036916 - a single de novo patient with syndromic developmental disorder Summary: AMBER - one report, may be a coincidental de novo finding Sources: Literature |
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| Mendeliome v0.0 | CTHRC1 |
Zornitza Stark gene: CTHRC1 was added gene: CTHRC1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTHRC1 was set to Unknown |
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| Mendeliome v0.0 | CTH |
Zornitza Stark gene: CTH was added gene: CTH was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTH was set to Unknown |
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