Paediatric pseudo-obstruction syndrome
Gene: SURF1EnsemblGeneIds (GRCh38): ENSG00000148290
EnsemblGeneIds (GRCh37): ENSG00000148290
OMIM: 185620, Gene2Phenotype
SURF1 is in 18 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 list classification: This gene should be rated RED. The phenotypes that are reported in OMIM or G2P are not relevant to this panel. This gene is associated with Leigh syndrome in G2P and Mitochondrial complex IV deficiency, nuclear type 1 (MIM #220110) in OMIM. In addition, I cannot fin any publications associating this gene with pseudo-obstruction or any other gastrointestinal phenotypes from a quick literature search.Created: 30 Dec 2022, 9:55 p.m. | Last Modified: 30 Dec 2022, 9:55 p.m.
Panel Version: 0.147
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110
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 IV deficiency, nuclear type 1, OMIM:220110
- OMIM
- 185620
- Clinvar variants
- Variants in SURF1
- Penetrance
- None
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Paediatric pseudo-obstruction syndrome
- Paediatric or syndromic cardiomyopathy
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Mitochondrial disorder with complex IV deficiency
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: SURF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SURF1 were changed from to Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: SURF1 was added gene: SURF1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SURF1 was set to