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Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v1.59 GMPPA Ain Roesley Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Marked gene: GMPPA as ready
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Gene: gmppa has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Classified gene: GMPPA as Amber List (moderate evidence)
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Gene: gmppa has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Classified gene: GMPPA as Amber List (moderate evidence)
Genetic Epilepsy v0.2053 GMPPA Zornitza Stark Gene: gmppa has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.2052 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPA were set to 24035193; 28574218
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome (MIM# 615510)
Review for gene: GMPPA was set to AMBER
Added comment: 10 families reported, of which one had seizures.
Sources: Expert list