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Congenital myaesthenic syndrome v2.39 | CACNA1A | Arina Puzriakova Phenotypes for gene: CACNA1A were changed from episodic ataxia plus myasthenic syndrome; hemiplegic migraine plus disturbed NMJ function to Lambert-Eaton myasthenic syndrome, MONDO:0018556 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.70 | CACNA1A | Louise Daugherty commented on gene: CACNA1A: Leave as Red, awaiting more information on this gene and potential disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.70 | CACNA1A | Louise Daugherty edited their review of gene: CACNA1A: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.65 | CACNA1A | Louise Daugherty Publications for gene: CACNA1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.64 | CACNA1A | Louise Daugherty Phenotypes for gene: CACNA1A were changed from episodic ataxia plus myasthenic syndrome to episodic ataxia plus myasthenic syndrome; hemiplegic migraine plus disturbed NMJ function | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.63 | CACNA1A | Louise Daugherty Phenotypes for gene: CACNA1A were changed from to episodic ataxia plus myasthenic syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.62 | CACNA1A | Louise Daugherty Mode of inheritance for gene: CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.34 | CACNA1A | Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.14 | CACNA1A | Michael Oldridge reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.13 | CACNA1A | Louise Daugherty Source NHS GMS was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Congenital myaesthenic syndrome v1.12 | CACNA1A |
Louise Daugherty gene: CACNA1A was added gene: CACNA1A was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CACNA1A was set to |