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  3. SCNM1
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Ciliopathies

Gene: SCNM1

Green List (high evidence)
SCNM1 (sodium channel modifier 1)
EnsemblGeneIds (GRCh38): ENSG00000163156
EnsemblGeneIds (GRCh37): ENSG00000163156
OMIM: 608095, Gene2Phenotype
SCNM1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Orofaciodigital syndrome XIX, MIM# 620107

Created: 31 Oct 2022, 2:43 a.m.
Last Modified: 31 Oct 2022, 2:43 a.m.
Panel version: 1.36

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous
- the missense variant was shown to have a splice outcome
Sources: Literature
Created: 6 Oct 2022, 4:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliopathy, SCNM1-related, MONDO:0005308

Publications

Created: 6 Oct 2022, 4:15 a.m.

Panel version: 1.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Orofaciodigital syndrome XIX, MIM# 620107
OMIM
608095
Clinvar variants
Variants in SCNM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnm1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scnm1 has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: SCNM1 was added gene: SCNM1 was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNM1 were set to PMID: 36084634 Phenotypes for gene: SCNM1 were set to Ciliopathy, SCNM1-related, MONDO:0005308 Review for gene: SCNM1 was set to GREEN