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Intellectual disability syndromic and non-syndromic

Gene: LRPPRC

Green List (high evidence)

LRPPRC (leucine rich pentatricopeptide repeat containing)
EnsemblGeneIds (GRCh38): ENSG00000138095
EnsemblGeneIds (GRCh37): ENSG00000138095
OMIM: 607544, Gene2Phenotype
LRPPRC is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ID is part of the phenotype.
Created: 23 May 2024, 5:13 a.m. | Last Modified: 23 May 2024, 5:13 a.m.
Panel Version: 0.5887

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111

Kirsty Choi (University of Melbourne)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), 220111; developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, high mortality due to episodes of severe acidosis and coma, hypertension, cerebrospinal fluid lactate levels, decreased blood bicarbonate levels, microvesicular steatosis, psychomotor delay, ataxia, hypotonia, transient tachypnea of the newborn, poor sucking, tremor, hypoglycemia, seizures

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111
OMIM
607544
Clinvar variants
Variants in LRPPRC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrpprc has been classified as Green List (High Evidence).

23 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRPPRC were changed from to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRPPRC were set to

23 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRPPRC was added gene: LRPPRC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRPPRC was set to Unknown