Genomics England

LONP1

lon peptidase 1, mitochondrial

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 8.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, 600373
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS SYNDROME 600373
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879, neurodevelopmental disorder, MONDO:0700092
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879, neurodevelopmental disorder, MONDO:0700092
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879, neurodevelopmental disorder, MONDO:0700092
Green in Possible mitochondrial disorder, nuclear genes R-numbers: R63 Signed-off version 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879, neurodevelopmental disorder, MONDO:0700092
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS syndrome OMIM:600373, CODAS syndrome MONDO:0010879
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373