Genomics England

LONP1

lon peptidase 1, mitochondrial

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, 600373
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, 600373, Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, 600373
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, 600373
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373