ACD

ACD, shelterin complex subunit and telomerase recruitment factor
OMIM: 609377, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ACD in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.7

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
  • MDS, AML
  • Oral and GI squamous cell carcinoma

Green ACD in COVID-19 research


Level 2: Viral research
Version 1.80

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Amber ACD in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.23
Latest signed off version: v2.5 (4 Mar 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Amber ACD in Familial melanoma


Version 1.10
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS

Red ACD in Ductal plate malformation


Version 1.18

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Amber ACD in Inherited predisposition to acute myeloid leukaemia (AML)


Version 1.19
Latest signed off version: v1.2 (3 Mar 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Green ACD in Primary immunodeficiency


Version 2.480
Latest signed off version: v2.1 (24 Feb 2020)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Amber ACD in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.14
Latest signed off version: v2.2 (18 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Green ACD in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.21
Latest signed off version: v2.2 (18 Feb 2020)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
  • MDS, AML
  • Oral and GI squamous cell carcinoma

Green ACD in Cytopenia - NOT Fanconi anaemia


Version 1.43
Latest signed off version: v1.29 (15 Oct 2020)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London South GLH
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553

Amber ACD in Severe Paediatric Disorders


Version 1.84

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
  • Dyskeratosis congenita, autosomal recessive 7, OMIM:616553