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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 1 panel

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.

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • alpha-Mannosidosis
OMIM
154580
Clinvar variants
Variants in MAN2C1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

29 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MAN2C1 were set to alpha-Mannosidosis

29 Jul 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MAN2C1 was changed to Unknown

29 Jul 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MAN2C1 were set to 6220608

29 Jul 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

MAN2C1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

MAN2C1 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

MAN2C1 was added to Unexplained skeletal dysplasiapanel. Sources: