Severe microcephaly
Gene: DPM1EnsemblGeneIds (GRCh38): ENSG00000000419
EnsemblGeneIds (GRCh37): ENSG00000000419
OMIM: 603503, Gene2Phenotype
DPM1 is in 12 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is sufficient evidence to promote this gene to Green at the next GMS panel update.Created: 1 Jul 2021, 10:35 a.m. | Last Modified: 1 Jul 2021, 10:35 a.m.
Panel Version: 2.212
At least 12 individuals from 10 unrelated families described in literature. 11/12 had a variable degree of microcephaly - a sufficient number of cases (>3) had microcephaly of relevant severity to this panel. Acquired postnatally, and progressive in some cases.Created: 1 Jul 2021, 10:34 a.m. | Last Modified: 2 Jul 2021, 10:09 a.m.
Panel Version: 2.214
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ie, OMIM:608799
Publications
Zornitza Stark (Australian Genomics)
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: Expert listCreated: 4 Sep 2020, 10:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ie 608799
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type Ie, OMIM:608799
- OMIM
- 603503
- Clinvar variants
- Variants in DPM1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Congenital muscular dystrophy
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: DPM1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to DPM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating tag was added to gene: DPM1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799 to Congenital disorder of glycosylation, type Ie, OMIM:608799
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: DPM1 were set to 16641202; 10642602; 10642597
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: dpm1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: DPM1 was added gene: DPM1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM1 were set to 16641202; 10642602; 10642597 Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799 Review for gene: DPM1 was set to GREEN gene: DPM1 was marked as current diagnostic