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Intellectual disability syndromic and non-syndromic

Gene: SAMHD1

Green List (high evidence)

SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 23 panels

1 review

Reetoo Ramessur (Other)

Green List (high evidence)

Aicardi-Goutieres syndrome 5 is a rare genetic disorder with variable clinical manifestation caused by homozygous or compound heterozygous mutations in SAMHD1.
Most patients in the long-term follow-up are intellectually and physically disabled [Crow et al., 2015]; however, there are children described in the literature, carrying SAMHD1 mutations, who were mildly intellectually impaired or even retained normal intellect [Dale et al., 2010]
Created: 22 May 2024, 8:32 a.m. | Last Modified: 22 May 2024, 8:32 a.m.
Panel Version: 0.5881

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 5, MIM# 612952

Publications

History Filter Activity

27 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samhd1 has been classified as Green List (High Evidence).

27 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952

27 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAMHD1 were set to

27 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMHD1 was added gene: SAMHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SAMHD1 was set to Unknown