Ductal plate malformation
Gene: MRE11
MRE11 (MRE11 homolog, double strand break repair nuclease)
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 17 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Ataxia-telangiectasia-like disorder 1 (604391)
- OMIM
- 600814
- Clinvar variants
- Variants in MRE11
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- COVID-19 research
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Hereditary ataxia
- Fetal anomalies
- Severe microcephaly
- White matter disorders and cerebral calcification - narrow panel
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Bill Griffiths: Sources: Literature
12 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MRE11 was added gene: MRE11 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder 1 (604391)