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Severe microcephaly

Gene: DPM1

Amber List (moderate evidence)

DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic)
EnsemblGeneIds (GRCh38): ENSG00000000419
EnsemblGeneIds (GRCh37): ENSG00000000419
OMIM: 603503, Gene2Phenotype
DPM1 is in 14 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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)

Green List (high evidence)

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 list
Created: 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

History Filter Activity

1 Jul 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: DPM1.

1 Jul 2021, Gel status: 2

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

1 Jul 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DPM1 were set to 16641202; 10642602; 10642597

1 Jul 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dpm1 has been classified as Amber List (Moderate Evidence).

4 Sep 2020, Gel status: 0

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