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Fetal anomalies

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

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established disease gene, can present in utero with microcephaly, brain malformations, contractures
Created: 8 Nov 2021, 3:30 a.m. | Last Modified: 8 Nov 2021, 3:30 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 5, MIM#612952

Publications

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

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

8 Nov 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

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

8 Nov 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SAMHD1 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMHD1 was added gene: SAMHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME