Cerebellar and Pontocerebellar Hypoplasia
Gene: MAN2C1EnsemblGeneIds (GRCh38): ENSG00000140400
EnsemblGeneIds (GRCh37): ENSG00000140400
OMIM: 154580, Gene2Phenotype
MAN2C1 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 2, MIM# 619775
Michelle Torres (Victorian Clinical Genetics Services)
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 individuals (2 families) presented hypoplasia of brainstem and/or cerebellar
Sources: LiteratureCreated: 1 Feb 2022, 11:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodevelopmental disorder MONDO:0700092 MAN2C1-related
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital disorder of deglycosylation 2, MIM# 619775
- OMIM
- 154580
- Clinvar variants
- Variants in MAN2C1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to Congenital disorder of deglycosylation 2, MIM# 619775
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: man2c1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: man2c1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: man2c1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: man2c1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Michelle Torres (Victorian Clinical Genetics Services)gene: MAN2C1 was added gene: MAN2C1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature 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