DNA2

DNA replication helicase/nuclease 2
OMIM: 601810, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber DNA2 in Cataract Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rothmund-Thomson syndrome, type 4, MIM# 620819
Green DNA2 in Mendeliome Version 2.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Rothmund-Thomson syndrome, type 4, MIM# 620819 Seckel syndrome 8, MIM#615807 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Green DNA2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Seckel syndrome 8, MIM#615807
Amber DNA2 in Photosensitivity Syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated Tags deep intronic founder
Green DNA2 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Seckel syndrome 8, MIM#615807 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Green DNA2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Rothmund-Thomson syndrome, type 4, MIM# 620819 Seckel syndrome 8, MIM#615807 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Green DNA2 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Amber DNA2 in Ectodermal Dysplasia Level 2: Dermatological disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Phenotypes Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated
Green DNA2 in Growth failure Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Seckel syndrome 8, MIM:615807
Green DNA2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Seckel syndrome 8, MIM#615807