Intellectual disability update Jan 2018
Gene: LONP1EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 11 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added phenotype OMIM alternative nameCreated: 14 Mar 2018, 1:14 p.m.
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient number of cases from a range of ethnic backgrounds with different variants and an appropriate phenotype.Created: 8 Mar 2018, 3 p.m.
Comment on list classification: In OMIM developmental delay is a fairly consistently reported feature (all 5 papers comprising the clinical features section refer to psychomotor delay, developmental delay, functioning at a level lower than expected).Created: 8 Mar 2018, 2:59 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a probable G2P association. At least 4 homozygous or compound-heterozygous variants were identified in 10 cases from 3 different ancestral backgrounds, a part of the variable phenotype, intellectual disability was associated with 2 variants from 2 different ancestral backgrounds.Created: 8 Mar 2018, 1:44 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- CODAS syndrome, 600373
- Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
- OMIM
- 605490
- Clinvar variants
- Variants in LONP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Pyruvate dehydrogenase (PDH) deficiency
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for LONP1 were set to CODAS syndrome, 600373; Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for LONP1 were set to CODAS syndrome, 600373; CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for LONP1 were set to 25574826; 20503327
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for LONP1 were set to CODAS syndrome 600373
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for LONP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for LONP1 were set to 25574826
Added New Source
Ellen McDonagh (Genomics England Curator)LONP1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)LONP1 was created by Ellen McDonagh