Skeletal dysplasia
Gene: DOLPP1

DOLPP1 (dolichyldiphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000167130
EnsemblGeneIds (GRCh37): ENSG00000167130
OMIM: 614516, Gene2Phenotype
DOLPP1 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: No direct evidence for involvement in human disease
Created: 1 Aug 2016, 11:34 a.m.

Created: 1 Aug 2016, 11:34 a.m.

Panel version: 0.1243

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
Unknown

Phenotypes
Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)

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

Created: 17 Jun 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red

Phenotypes

Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)

OMIM

614516

Clinvar variants

Variants in DOLPP1

Penetrance

Complete

Panels with this gene

Skeletal dysplasia