Rare genetic inflammatory skin disorders
Gene: SAMHD1EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
2 reviews
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: SAMHD1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:02 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ?Chilblain lupus 2, OMIM:614415
- AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intracerebral calcification disorders
- Early onset or syndromic epilepsy
- COVID-19 research
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal anomalies
- Possible mitochondrial disorder, nuclear genes
- Early onset dystonia
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Juvenile dermatomyositis
- Mitochondrial DNA maintenance disorder
- DDG2P
- Neurodegenerative disorders, adult onset
- Rare genetic inflammatory skin disorders
- Mitochondrial disorders
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SAMHD1 were changed from Chillblain lupus; Aicardi-Goutieres syndrome; AGS5, CHILBLAIN LUPUS 2; AICARDI-GOUTIERES SYNDROME 5; CHBL2 to ?Chilblain lupus 2, OMIM:614415; AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes AICARDI-GOUTIERES SYNDROME 5; AGS5, CHILBLAIN LUPUS 2; CHBL2 for gene: SAMHD1 Publications for gene SAMHD1 were changed from to 21204240; 19525956
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SAMHD1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SAMHD1 was added gene: SAMHD1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SAMHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome; Chillblain lupus