Cytopenia - NOT Fanconi anaemia
Gene: ACDComment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as the patient with AR inheritance had a more severe phenotype.Created: 1 Jul 2021, 3:31 p.m. | Last Modified: 1 Jul 2021, 3:31 p.m.
Panel Version: 1.40
Comment on list classification: Only two families with DC who have variants in ACD have been reported since 2015 - one family with AD inheritance had only progressive bone marrow failure (PMID: 25205116) and one patient (patient B) with AR inheritance had a more severe phenotype (PMID: 25233904). However, this gene was rated Green on this and other panels following external clinical review - so this rating will be maintained at this time.Created: 30 Jun 2021, 11:40 a.m. | Last Modified: 30 Jun 2021, 11:40 a.m.
Panel Version: 1.38
I can only find two families reported: one for each MOI.Created: 19 Jun 2021, 2:02 a.m. | Last Modified: 19 Jun 2021, 2:02 a.m.
Panel Version: 1.37
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, MIM# 616553
Publications
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:55 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616553 ?Dyskeratosis congenita 6 and 7
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616553 ?Dyskeratosis congenita 6 and 7
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.Created: 22 Jul 2019, 1:20 p.m. | Last Modified: 22 Jul 2019, 1:22 p.m.
Panel Version: 0.77
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): 25205116; 25233904Created: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ACD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 616553 ?Dyskeratosis congenita 6 and 7; PMID(s): 25205116; 25233904Created: 8 Feb 2019, 1:43 p.m.
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616553 ?Dyskeratosis congenita 6 and 7
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita 6 and 7 to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Gene: acd has been classified as Green List (High Evidence).
Gene: acd has been classified as Green List (High Evidence).
Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Source North West GLH was added to ACD.
Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Source Yorkshire and North East GLH was added to ACD.
Source Expert Review Green was added to ACD. Rating Changed from Red List (low evidence) to Green List (high evidence)
Mode of inheritance for gene ACD was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD
Added phenotypes 616553 ?Dyskeratosis congenita 6 and 7 for gene: ACD Publications for gene ACD were changed from to 25233904; 25205116
Source NHS GMS was added to ACD.
gene: ACD was added gene: ACD was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: ACD was set to