Familial pulmonary fibrosis
Gene: ACD

ACD (ACD, shelterin complex subunit and telomerase recruitment factor)
EnsemblGeneIds (GRCh38): ENSG00000102977
EnsemblGeneIds (GRCh37): ENSG00000102977
OMIM: 609377, Gene2Phenotype
ACD is in 12 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This gene was approved by the NHS Genomic Medicine Service, rated green on the 'Pulmonary fibrosis familial' GMS panel with 'monoallelic' inheritance. Therefore the MOI and rating on this panel was also updated accordingly and the 'watchlist' tag was removed. Added 'watchlist_MOI' tag to ensure monitoring of biallelic variants as currently no evidence linking these to PF is available but may emerge in the future.
Created: 25 Mar 2022, 10:36 a.m. | Last Modified: 25 Mar 2022, 10:36 a.m.

Panel Version: 1.27

Created: 25 Mar 2022, 10:36 a.m.
Last Modified: 25 Mar 2022, 10:36 a.m.
Panel version: 1.27

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Øystein Holla (Telemark Hospital Trust). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team this gene has been given an Amber rating until more evidence is available due to unaffected heterozygotes reported in PMID: 33446513.
Created: 25 Feb 2022, 4:15 p.m. | Last Modified: 25 Feb 2022, 4:15 p.m.

Panel Version: 1.25

Created: 25 Feb 2022, 4:15 p.m.
Last Modified: 25 Feb 2022, 4:15 p.m.
Panel version: 1.25

Øystein Holla (Telemark Hospital Trust)

Green List (high evidence)

Pathogenic variants in ACD cause dyskeratosis congenita (DC) and short telomeres.
People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis.
(GeneReviews Dyskeratosis Congenita, Last Revision: November 21, 2019.)

Unaffected heterozygotes are reported, PMID: 33446513
Sources: Literature
Created: 15 Dec 2021, 11:13 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
dyskeratosis congenita, telomere disorder, pulmonary fibrosis

Publications

31515401

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

Created: 15 Dec 2021, 11:13 a.m.

Panel version: 1.18

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Tags

watchlist_moi

OMIM

609377

Clinvar variants

Variants in ACD

Penetrance

unknown

Publications

Panels with this gene

History Filter Activity

25 Mar 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist_moi tag was added to gene: ACD.

25 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

25 Mar 2022, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: ACD.

25 Feb 2022, Gel status: 2