Macular Dystrophy/Stargardt Disease
Gene: HMCN1
HMCN1 (hemicentin 1)
EnsemblGeneIds (GRCh38): ENSG00000143341
EnsemblGeneIds (GRCh37): ENSG00000143341
OMIM: 608548, Gene2Phenotype
HMCN1 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000143341
EnsemblGeneIds (GRCh37): ENSG00000143341
OMIM: 608548, Gene2Phenotype
HMCN1 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single Tunisian Jewish family reported to segregate a frameshift variant. Another missense (p.Gln5345Arg) was reported in another family, but is too common to cause rare disease (gnomAD european non-finnish AF is 0.001329, 1 homozygote). No functional assays conducted.Created: 5 Feb 2020, 5:39 a.m. | Last Modified: 5 Feb 2020, 5:39 a.m.
Panel Version: 0.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Age-related macular degeneration
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Macular Degeneration
- OMIM
- 608548
- Clinvar variants
- Variants in HMCN1
- Penetrance
- None
- Panels with this gene
History Filter Activity
5 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hmcn1 has been classified as Red List (Low Evidence).
5 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hmcn1 has been classified as Red List (Low Evidence).
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HMCN1 was added gene: HMCN1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HMCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HMCN1 were set to Macular Degeneration