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  3. CRNKL1
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Fetal anomalies

Gene: CRNKL1

Amber List (moderate evidence)
CRNKL1 (crooked neck pre-mRNA splicing factor 1)
EnsemblGeneIds (GRCh38): ENSG00000101343
EnsemblGeneIds (GRCh37): ENSG00000101343
OMIM: 610952, Gene2Phenotype
CRNKL1 is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Beth Young (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Profound pre and post natal microcephaly, pontoverebellar hypoplasia, seizures and severe ID. Caused by de novo variants; hotspot at Arg267. Green on Ataxia/cerebellar anomalies and severe microcephaly panels.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436; microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436
  • microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935
OMIM
610952
Clinvar variants
Variants in CRNKL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: CRNKL1 was added gene: CRNKL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CRNKL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CRNKL1 were set to 40857589 Phenotypes for gene: CRNKL1 were set to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436; microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MONDO:0980935