Skeletal dysplasia
Gene: MAN2C1

MAN2C1 (mannosidase alpha class 2C member 1)
EnsemblGeneIds (GRCh38): ENSG00000140400
EnsemblGeneIds (GRCh37): ENSG00000140400
OMIM: 154580, Gene2Phenotype
MAN2C1 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM nor G2P. Alpha-mannosidase assigned to chromosome 15q11-qter, boy with a ring chromosome 15 derived from a t(15q, 15q) chromosome
Created: 29 Jul 2016, 7:21 a.m.

Created: 29 Jul 2016, 7:21 a.m.

Panel version: 0.947

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
Unknown

Phenotypes
Alpha-mannosidase assigned to chromosome 15q11-qter, boy with a ring chromosome 15 derived from a t(15q, 15q) chromosome

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Expert list

Phenotypes

alpha-Mannosidosis

OMIM

154580

Clinvar variants

Variants in MAN2C1

Penetrance

Complete

Publications

6220608

Panels with this gene