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Fetal anomalies

Gene: DPYSL5

Green List (high evidence)
DPYSL5 (dihydropyrimidinase like 5)
EnsemblGeneIds (GRCh38): ENSG00000157851
EnsemblGeneIds (GRCh37): ENSG00000157851
OMIM: 608383, Gene2Phenotype
DPYSL5 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.78

Elizabeth Wall (Birmingham Women's and Children's Hospital)

Green List (high evidence)

PMID: 33894126: 10 cases from 9 families with heterozygous missense variants. 8 cases de novo (recurrent p.Glu41Lys variant) and 2 sibs with suspected gonadal mosaicism and Ritscher-Schinzel phenotype. Both missense variants demonstrated to have likely LOF mechanism. Functional studies - impaired dendritic outgrowth processes in young developing hippocampal primary neuronal cultures. Missense variants reduced the interaction of DPYSL5 with neuronal cytoskeleton-associated proteins MAP2 and _III-tubulin. Phenotype: neurodevelopmental disorder, severe ID, hypotonia, non specific skeletal and dysmorphic features. Congenital heart disease in the 2 siblings (ASD, mitral valve cleft). MRI brain findings: Agenesis of the corpus callosum (7/7), cerebellar hypoplasia (6/7), Dandy-Walker malformation with encephalocele (1/7), hippocampal dysplasia (3/7). Fetal presentation: dilated ventricles at 36 weeks (1/10), reduced fetal movements (2/10).
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ritscher-Schinzel syndrome 4, MIM#619435

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ritscher-Schinzel syndrome 4, OMIM:619435
OMIM
608383
Clinvar variants
Variants in DPYSL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: DPYSL5. Tag Q1_25_ promote_green was removed from gene: DPYSL5.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to DPYSL5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: DPYSL5. Tag Q1_25_ promote_green tag was added to gene: DPYSL5.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DPYSL5 was added gene: DPYSL5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DPYSL5 were set to 33894126 Phenotypes for gene: DPYSL5 were set to Ritscher-Schinzel syndrome 4, OMIM:619435