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Retinal disorders

Region: MCDR3

None

No list
Chromosome: 5
GRCh37 Position: 4396927-4440442
GRCh38 Position: 4396814-4440329
Haploinsufficiency Score:
Triplosensitivity Score: Emerging evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain

2 reviews

Ida Ertmanska (Genomics England Curator)

Comment on list classification: While there is emerging evidence linking duplications at the MCDR3 locus and macular dystrophy, PanelApp panels currently only include regions curated in ClinGen with sufficient evidence of dosage sensitivity. As this region in not included in ClinGen, we are unable to add it at this time.
Created: 21 Oct 2025, 2:41 p.m. | Last Modified: 27 Oct 2025, 10:35 a.m.
Panel Version: 8.56

Phenotypes
Macular dystrophy, retinal, 3, OMIM:608850

Publications

Created: 21 Oct 2025, 2:41 p.m.
Last Modified: 27 Oct 2025, 10:35 a.m.
Panel version: 8.55

Ronnie Wright (North West GLH)

Green List (high evidence)

The precise 'critical' region and the aetiological mechanism by which this duplication causes disease is not fully understood, yet the coordinates specified above reflect the 'British' origin variant at the MCDR3 locus (for which the greatest evidence is available - segregating in multiple families), identified by Cipriani et al (PMID:28790370).

OMIM #608850
Sources: Literature
Created: 20 Oct 2025, 11:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular Dystrophy

Publications

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

Created: 20 Oct 2025, 11:42 a.m.

Panel version: 8.55

Details

ISCA ID
MCDR3
ISCA Region Name
None
Chromosome
5
GRCh37 Coordinates
4396927-4440442
GRCh38 Coordinates
4396814-4440329
Haploinsufficiency Score
Triplosensitivity Score
Emerging evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Macular dystrophy, retinal, 3, OMIM:608850
Tags
curated_removed
Clinvar variants
Variants in
Penetrance
Complete
Variant types
CNV Gain
Publications

History Filter Activity

21 Oct 2025, Gel status: 0

Removed Source, Added New Source, Set Phenotypes, Added Tag

Ida Ertmanska (Genomics England Curator)

Source Literature was removed from Region: MCDR3. Source NHS GMS was added to Region: MCDR3. Phenotypes for Region: MCDR3 were changed from Macular Dystrophy to Macular dystrophy, retinal, 3, OMIM:608850 Tag curated_removed was added to Region: MCDR3.

20 Oct 2025, Gel status: 0

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

Ronnie Wright (North West GLH)

Region: MCDR3 was added Region: MCDR3 was added to Retinal disorders. Sources: Literature Mode of inheritance for Region: MCDR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: MCDR3 were set to 28790370 Phenotypes for Region: MCDR3 were set to Macular Dystrophy Penetrance for Region: MCDR3 were set to Complete Review for Region: MCDR3 was set to GREEN Region: MCDR3 was marked as current diagnostic