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  2. Hand and foot malformations
  3. ACVR1
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Hand and foot malformations

Gene: ACVR1

Green List (high evidence)
ACVR1 (activin A receptor type 1)
EnsemblGeneIds (GRCh38): ENSG00000115170
EnsemblGeneIds (GRCh37): ENSG00000115170
OMIM: 102576, Gene2Phenotype
ACVR1 is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments.

PMID: 19085907; 112 FOP (classic and atypical) cases (104 sporadic and 8 families) with R206H has the recurrent variant and a greater clinical variability seen in non-R206H patients (PMID: 26776312)

PMID: 18684712, 23572558, 20463014; functional studies demonstrating GoF
Created: 1 Jul 2020, 6:18 a.m. | Last Modified: 1 Jul 2020, 6:18 a.m.
Panel Version: 0.34

Phenotypes
Fibrodysplasia ossificans progressiva (MIM# 135100)

Publications

Created: 1 Jul 2020, 6:18 a.m.
Last Modified: 1 Jul 2020, 6:18 a.m.
Panel version: Imported from Skeletal dysplasia panel version 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fibrodysplasia ossificans progressiva 135100
Tags
clinical trial
OMIM
102576
Clinvar variants
Variants in ACVR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acvr1 has been classified as Green List (High Evidence).

23 Sep 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACVR1 were set to

23 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag clinical trial tag was added to gene: ACVR1.

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACVR1 was added gene: ACVR1 was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva 135100