ACD

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ACD in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.17	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 1.142	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
Green ACD in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553 ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 Tags watchlist_moi
Amber ACD in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	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 2.4 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS
Red ACD in Ductal plate malformation Version 1.29	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 3.3 Latest signed off version: v3.0 (22 Mar 2023)	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 or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	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 2.29 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 4.4 Latest signed off version: v4.0 (22 Mar 2023)	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 3.33 Latest signed off version: v3.0 (22 Mar 2023)	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 1.184	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
Green ACD in Pulmonary fibrosis familial Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.7 Latest signed off version: v1.3 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant, OMIM:616553