Polymicrogyria and Schizencephaly
Gene: MAN2C1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 2, MIM# 619775
Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense.
*3 unrelated individuals presented polymicrogyria
Sources: Literature, ResearchCreated: 1 Feb 2022, 11:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder MONDO:0700092 MAN2C1-related
Publications
Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to Congenital disorder of deglycosylation 2, MIM# 619775
Gene: man2c1 has been classified as Green List (High Evidence).
Gene: man2c1 has been classified as Green List (High Evidence).
Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder, MAN2C1-related, MONDO:0700092 to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092
Gene: man2c1 has been classified as Green List (High Evidence).
Gene: man2c1 has been classified as Green List (High Evidence).
Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092
Gene: man2c1 has been classified as Green List (High Evidence).
gene: MAN2C1 was added gene: MAN2C1 was added to Polymicrogyria and Schizencephaly. Sources: Literature,Research Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2C1 were set to 35045343 Phenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related Review for gene: MAN2C1 was set to GREEN