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  3. C19orf70
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Fetal anomalies

Gene: C19orf70

Green List (high evidence)
C19orf70 (chromosome 19 open reading frame 70)
EnsemblGeneIds (GRCh38): ENSG00000174917
EnsemblGeneIds (GRCh37): ENSG00000174917
OMIM: 616658, Gene2Phenotype
C19orf70 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8
On 4 panels, inc. severe paediatric disorders and IEM. Associated with combined oxidative phosphorylation deficiency 37 (AR). Zeharia et al., 2016 (PMID 27485409): Patient II-1: female, consanguineous parents, born at 42 weeks, small for gestational age (5-10th percentile), failure to thrive. 10mo: acquired microcephaly, truncal hypotonia, limb spasticity, lack of voluntary movements, positive Babinski sign. 1yo: cerebellar and vermis atrophy, other systems not involved. Died 5yo. Patient II-3: 25th percentile at birth. 7mo generalised hypotonia. 10mo neurological deterioration, cerebellar and vermis atrophy, non-obstructive hypertrophic cardiomyopathy. Died 12mo. Godiker et al., 2018 (PMID 29618761): Px: delivered at 38wks gestation. Prenatal: IUGR and intra-amniotic infection. No signs of dysmorphism. Small mitral and tricuspid regurgitation. 6mo: hyper and hypoechogenic liver nodules, bilateral renal calcifications. 10mo: brain MRI = cerebellar hypoplasia and optic atrophy. Conclusion: weak link to prenatal phenotype (IUGR). ?Relevant
Created: 5 May 2023, 3 p.m. | Last Modified: 5 May 2023, 3 p.m.
Panel Version: 3.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 37, OMIM:618329

Publications

Created: 5 May 2023, 3 p.m.
Last Modified: 5 May 2023, 3 p.m.
Panel version: 3.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 37, OMIM:618329
Tags
new-gene-name
OMIM
616658
Clinvar variants
Variants in C19orf70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: C19orf70. Tag Q2_23_NHS_review was removed from gene: C19orf70.

10 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to C19orf70. Source NHS GMS was added to C19orf70. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 May 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: C19orf70 were set to

5 May 2023, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C19orf70.

5 May 2023, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: C19orf70. Tag Q2_23_NHS_review tag was added to gene: C19orf70.

5 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: C19orf70 was added gene: C19orf70 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, OMIM:618329