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  3. MAN2C1
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Skeletal dysplasia

Gene: MAN2C1

Red List (low evidence)
MAN2C1 (mannosidase alpha class 2C member 1)
EnsemblGeneIds (GRCh38): ENSG00000140400
EnsemblGeneIds (GRCh37): ENSG00000140400
OMIM: 154580, Gene2Phenotype
MAN2C1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of deglycosylation 2, MIM# 619775

Created: 5 Mar 2022, 12:56 a.m.
Last Modified: 5 Mar 2022, 12:56 a.m.
Panel version: Imported from Mendeliome panel version 0.11135

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Sources: Literature
Created: 1 Feb 2022, 11:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092 MAN2C1-related

Publications

Created: 1 Feb 2022, 11:23 p.m.

Panel version: Imported from Mendeliome panel version 0.10835

Details

Mode of Inheritance
Unknown
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • alpha-Mannosidosis
OMIM
154580
Clinvar variants
Variants in MAN2C1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAN2C1 was added gene: MAN2C1 was added to Skeletal dysplasia. Sources: Expert Review Red,Expert list Mode of inheritance for gene: MAN2C1 was set to Unknown Publications for gene: MAN2C1 were set to 6220608 Phenotypes for gene: MAN2C1 were set to alpha-Mannosidosis