RTEL1

regulator of telomere elongation helicase 1
OMIM: 608833, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green RTEL1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 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 Dyskeratosis congenita, MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Green RTEL1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.124 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RTEL1 in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 4 MIM# 615190 Dyskeratosis congenita, autosomal recessive 5 MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373
Green RTEL1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.87	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Green RTEL1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.115 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 4 MIM# 615190 Dyskeratosis congenita, autosomal recessive 5 MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373
Green RTEL1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Dyskeratosis congenita, autosomal recessive 5, MIM#615190
Green RTEL1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Green RTEL1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyskeratosis congenita, autosomal recessive 5 MIM#615190 Hoyeraal-Hreidarsson syndrome
Green RTEL1 in IBMDx study Version 0.35	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373 Dyskeratosis congenita, MIM# 615190
Green RTEL1 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, autosomal recessive 5, MIM#615190
Green RTEL1 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 (3)