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Intellectual disability syndromic and non-syndromic v0.5578 KCNH5 Zornitza Stark Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537
Intellectual disability syndromic and non-syndromic v0.5577 KCNH5 Zornitza Stark Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1
Intellectual disability syndromic and non-syndromic v0.5576 KCNH5 Zornitza Stark reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4740 KCNH5 Elena Savva Classified gene: KCNH5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4740 KCNH5 Elena Savva Gene: kcnh5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4740 KCNH5 Elena Savva Classified gene: KCNH5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4740 KCNH5 Elena Savva Gene: kcnh5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4740 KCNH5 Elena Savva Classified gene: KCNH5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4740 KCNH5 Elena Savva Gene: kcnh5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4739 KCNH5 Elena Savva Marked gene: KCNH5 as ready
Intellectual disability syndromic and non-syndromic v0.4739 KCNH5 Elena Savva Gene: kcnh5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4736 KCNH5 Elena Savva gene: KCNH5 was added
gene: KCNH5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1
Phenotypes for gene: KCNH5 were set to Neurodevelopmental disorder MONDO#0700092, KCNH5-related
Mode of pathogenicity for gene: KCNH5 was set to Other
Review for gene: KCNH5 was set to GREEN
Added comment: Happ (2022), preprint: Screen of 893 patients with DEE found 17 patients with missense variants (16/17 de novo, 1/17 inherited). GOF mechanism suggested.
Patient phenotypes included focal/generalized seizures, Cognitive outcome for the ten individuals >5 years ranged from normal (3/10) to mild (3/10), moderate (2/10), severe (1/10) and profound (1/10) intellectual disability (ID)

p.Arg327His (7 probands), p.Arg333His (4 probands) were recurring
Sources: Literature