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Intellectual disability

Gene: LONP1

Green List (high evidence)

LONP1 (lon peptidase 1, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000196365
EnsemblGeneIds (GRCh37): ENSG00000196365
OMIM: 605490, Gene2Phenotype
LONP1 is in 11 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: added more publications to support the phenotype
Created: 14 Mar 2018, 1:18 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.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS SYNDROME

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: 3 ancestral allele pairs reported to date. Further evidence required before diagnostic
Created: 7 Feb 2016, 10:59 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • CODAS syndrome, 600373
  • Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
OMIM
605490
Clinvar variants
Variants in LONP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LONP1 were set to 25574826; 20503327; 11471171; 1887855

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for LONP1 were set to CODAS syndrome, 600373; Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to LONP1. Panel: Intellectual disability Publications for gene LONP1 was set to ['25574826', '20503327']

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LONP1 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LONP1 was created by ellenmcdonagh