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  3. ACVRL1
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Vascular Malformations_Somatic

Gene: ACVRL1

Green List (high evidence)
ACVRL1 (activin A receptor like type 1)
EnsemblGeneIds (GRCh38): ENSG00000139567
EnsemblGeneIds (GRCh37): ENSG00000139567
OMIM: 601284, Gene2Phenotype
ACVRL1 is in 14 panels

1 review

Chris Richmond (Genetic Health Queensland)

Green List (high evidence)

Primarily germline, but mosaic cases reported
Sources: Expert Review
Created: 2 Jul 2020, 12:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Telangiectasia, hereditary hemorrhagic, type 2 (600376)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Jul 2020, 12:05 a.m.

Panel version: 0.9

History Filter Activity

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acvrl1 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acvrl1 has been classified as Green List (High Evidence).

2 Jul 2020, Gel status: 0

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

Chris Richmond (Genetic Health Queensland)

gene: ACVRL1 was added gene: ACVRL1 was added to Vascular Malformations_Somatic. Sources: Expert Review Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVRL1 were set to 21378382 Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 (600376) Penetrance for gene: ACVRL1 were set to unknown Review for gene: ACVRL1 was set to GREEN gene: ACVRL1 was marked as current diagnostic