Microcephaly
Gene: DPM1EnsemblGeneIds (GRCh38): ENSG00000000419
EnsemblGeneIds (GRCh37): ENSG00000000419
OMIM: 603503, Gene2Phenotype
DPM1 is in 10 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ie 608799
Elena Savva (Victorian Clinical Genetics Services)
PMID: 16641202 - 2 siblings of consanguineous parents. One patient showed retarded motor skills at 1, 2 and 4 years old, with distal myopathy present at 3 years of age. The younger sister presented at 7 weeks of age with generalized hypotonia. Both had normal CK levels. Both siblings were progressively microcephalic.
PMID: 10642602 - 2 chet siblings with hypotonia within the first year of life. Both had elevated CK. Both siblings were progressively microcephalic
PMID: 10642597 - 2 unrelated patients. One had profound hypotonia at 3 years of age. The other patient was markedly hypotonic in infancy. Both were microcephalic and hd elevated CK levels.
Sources: LiteratureCreated: 23 Jun 2020, 11:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ie 608799
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation, type Ie 608799
- OMIM
- 603503
- Clinvar variants
- Variants in DPM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpm1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dpm1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: DPM1 was added gene: DPM1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM1 were set to PMID:16641202; 10642602; 10642597 Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799