Genomics England

DNA2

DNA replication helicase/nuclease 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Seckel syndrome 8, OMIM:615807
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156, Disorders of mitochondrial DNA maintenance and integrity
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Disorders of mitochondrial DNA maintenance and integrity, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156
Green in Mitochondrial DNA maintenance disorder R-numbers: R352 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Seckel syndrome 8, OMIM:615807, Microcephalic primordial dwarfism, MONDO:0017950