Multiple pterygium syndrome_Fetal akinesia sequence
Gene: AGRN
AGRN (agrin)
EnsemblGeneIds (GRCh38): ENSG00000188157
EnsemblGeneIds (GRCh37): ENSG00000188157
OMIM: 103320, Gene2Phenotype
AGRN is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000188157
EnsemblGeneIds (GRCh37): ENSG00000188157
OMIM: 103320, Gene2Phenotype
AGRN is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single report of homozygous intragenic deletion causing fetal akinesia sequence. Association with congenital myasthenia is well established.
Sources: LiteratureCreated: 13 Jun 2021, 10:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia sequence
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Fetal akinesia sequence
- OMIM
- 103320
- Clinvar variants
- Variants in AGRN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Jun 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: agrn has been classified as Amber List (Moderate Evidence).
13 Jun 2021, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: agrn has been classified as Amber List (Moderate Evidence).
13 Jun 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AGRN was added gene: AGRN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGRN were set to 31730230 Phenotypes for gene: AGRN were set to Fetal akinesia sequence Review for gene: AGRN was set to AMBER