ACD

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green ACD in Bone Marrow Failure Level 2: Haematological disorders Version 1.118 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes telomere syndrome MONDO:0100137 dyskeratosis congenita, autosomal dominant 6 MONDO:0014690 Hoyeraal-Hreidarsson syndrome MONDO:0018045
Green ACD in Mendeliome Version 1.2655	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes telomere syndrome MONDO:0100137 dyskeratosis congenita, autosomal dominant 6 MONDO:0014690 Hoyeraal-Hreidarsson syndrome MONDO:0018045
Amber ACD in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.87	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Green ACD in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes ACD-related short telomere syndrome MONDO:0100569

4 panels