Arthrogryposis
Gene: SYNE1
SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three families reported with bi-allelic distal truncating variants in this gene (KASH domain). This appears to be a specific genotype-phenotype correlation with variants elsewhere in the gene causing different phenotypes.
Sources: LiteratureCreated: 23 Nov 2019, 9:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Distal arthrogryposis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Distal arthrogryposis
- OMIM
- 608441
- Clinvar variants
- Variants in SYNE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
23 Nov 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: syne1 has been classified as Green List (High Evidence).
23 Nov 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: syne1 has been classified as Green List (High Evidence).
23 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SYNE1 was added gene: SYNE1 was added to Arthrogryposis_VCGS. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 27782104 Phenotypes for gene: SYNE1 were set to Distal arthrogryposis Review for gene: SYNE1 was set to GREEN