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Intellectual disability syndromic and non-syndromic

Gene: DMAP1

Green List (high evidence)

DMAP1 (DNA methyltransferase 1 associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000178028
EnsemblGeneIds (GRCh37): ENSG00000178028
OMIM: 605077, Gene2Phenotype
DMAP1 is in 2 panels

2 reviews

Ben Lundie (Queensland Pathology)

I don't know

Provided evidence at this point is only via presentation at conference with no peer reviewed publication. Based on this laboratories cannot assess the gene-disease validity, mutational mechanism or phenotypic match. Until such evidence can be obtained publicly this gene should be considered as an emerging gene of interest without sufficient evidence for reporting which would make it amber rather than green.
Created: 24 Apr 2024, 5:05 a.m. | Last Modified: 24 Apr 2024, 5:05 a.m.
Panel Version: 0.5782

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Unknown.

Mode of pathogenicity
Other

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ESHG 2023:
9 patients/8 families with bilallelic variants in DMAP1 (3 missense, 7 LOF)
All with DD, speech delay, hypotonia, and ID
Some with epilepsy (4/6), FTT (4/5), and brain malformations (3/5)
Drosophila showed abnormal behaviour pattern and bang sensitivity
Specific methylation episignature also seen
Sources: Other
Created: 24 Jul 2023, 2:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, DMAP1-related
OMIM
605077
Clinvar variants
Variants in DMAP1
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dmap1 has been classified as Green List (High Evidence).

25 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related

24 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: dmap1 has been classified as Green List (High Evidence).

24 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: dmap1 has been classified as Green List (High Evidence).

24 Jul 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: DMAP1 was added gene: DMAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: DMAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMAP1 were set to Neurodevelopmental disorder Review for gene: DMAP1 was set to GREEN gene: DMAP1 was marked as current diagnostic