Paediatric pseudo-obstruction syndrome
Gene: NDUFS1
NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)
EnsemblGeneIds (GRCh38): ENSG00000023228
EnsemblGeneIds (GRCh37): ENSG00000023228
OMIM: 157655, Gene2Phenotype
NDUFS1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000023228
EnsemblGeneIds (GRCh37): ENSG00000023228
OMIM: 157655, Gene2Phenotype
NDUFS1 is in 15 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on rating: I do not find any publications reporting cases in support of the implication of this gene in paediatric pseudo-obstruction syndrome and hence the rating should be RED.
This gene has been associated with only mitochondrial complex I deficiency, nuclear type 5 (MIM #618226) in OMIM and with mitochondrial respiratory chain complex I deficiency and Leigh syndrome in G2P.Created: 29 Dec 2022, 8:41 p.m. | Last Modified: 29 Dec 2022, 8:41 p.m.
Panel Version: 0.97
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: Encodes various subunits of the respiratory chain as well as ancillary proteins.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
- OMIM
- 157655
- Clinvar variants
- Variants in NDUFS1
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Intellectual disability
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Optic neuropathy
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
History Filter Activity
4 Jan 2023, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
4 Jan 2023, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Dec 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NDUFS1 was added gene: NDUFS1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: NDUFS1 was set to