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Paediatric pseudo-obstruction syndrome

Gene: C17orf107

Red List (low evidence)
C17orf107 (chromosome 17 open reading frame 107)
EnsemblGeneIds (GRCh38): ENSG00000205710
EnsemblGeneIds (GRCh37): ENSG00000205710
C17orf107 is in 1 panel

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

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
Created: 1 Feb 2023, 7:44 a.m.
Last Modified: 1 Feb 2023, 7:44 a.m.
Panel version: 0.216

Arina Puzriakova (Genomics England Curator)

Comment on list classification: C17orf107 [CHRNE] is associated with congenital myasthenic syndromes, however I could not find clear evidence of intestinal disturbance and therefore recommending a Red gene rating at this time.
Created: 21 Dec 2022, 10:42 a.m. | Last Modified: 21 Dec 2022, 10:42 a.m.
Panel Version: 0.40
Created: 21 Dec 2022, 10:42 a.m.
Last Modified: 21 Dec 2022, 10:42 a.m.
Panel version: 0.40

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: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: chromosome 17 open reading frame 107.
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
Congenital myasthenia; cholinergic receptors

Publications

Created: 20 Dec 2022, 3:32 p.m.
Last Modified: 20 Dec 2022, 3:32 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809
  • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Clinvar variants
Variants in C17orf107
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2022, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: C17orf107 were set to

21 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C17orf107 were changed from to Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809; Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931

21 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: c17orf107 has been classified as Red List (Low Evidence).

21 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: C17orf107 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: C17orf107 was added gene: C17orf107 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: C17orf107 was set to