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Mendeliome v0.2460 | GNAI2 | Zornitza Stark Classified gene: GNAI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.2460 | GNAI2 | Zornitza Stark Gene: gnai2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.2459 | GNAI2 | Zornitza Stark reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27787898; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.2459 | GNAI2 | Zornitza Stark Marked gene: GNAI2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.2459 | GNAI2 | Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.2459 | GNAI2 | Zornitza Stark Classified gene: GNAI2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.2459 | GNAI2 | Zornitza Stark Gene: gnai2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |