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Intellectual disability syndromic and non-syndromic

Gene: DHCR7

Green List (high evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 30 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well-established gene-disease association. ID is a feature of Smith-Lemli-Opitz.

Classified as DEFINITIVE by ClinGen ID and Autism GCEP on 09/09/2018 - https://search.clinicalgenome.org/CCID:004643
Created: 13 May 2024, 5:11 a.m. | Last Modified: 13 May 2024, 5:11 a.m.
Panel Version: 0.5798

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-Lemli-Opitz syndrome MONDO:0010035

Publications

  • https://search.clinicalgenome.org/CCID:004643

History Filter Activity

13 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dhcr7 has been classified as Green List (High Evidence).

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DHCR7 were set to

13 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome MONDO:0010035

13 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DHCR7 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: DHCR7 was added gene: DHCR7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHCR7 was set to Unknown