White matter disorders and cerebral calcification - narrow panel
Gene: SAMHD1EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres Syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Aicardi-Goutieres syndrome
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Intracerebral calcification disorders
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset dystonia
- Juvenile dermatomyositis
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Rare genetic inflammatory skin disorders
History Filter Activity
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome for gene: SAMHD1 Publications for gene SAMHD1 were changed from 25655951 to 25604658
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SAMHD1 was added gene: SAMHD1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 25655951 Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy