LONP1

lon peptidase 1, mitochondrial
OMIM: 605490, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green LONP1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CODAS syndrome - MIM#600373
Green LONP1 in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CODAS syndrome MIM# 600373
Red LONP1 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Congenital diaphragmatic hernia
Green LONP1 in Mendeliome Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related
Green LONP1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related
Green LONP1 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related
Green LONP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related
Green LONP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list NHS GMS Phenotypes CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373
Green LONP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CODAS syndrome, 600373 (3)
Green LONP1 in Fetal anomalies Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Literature Genetic Health Queensland Phenotypes CODAS syndrome, OMIM:600373 CODAS syndrome, MONDO:0010879
Green LONP1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CODAS syndrome, MIM#600373