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  3. SEL1L
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Fetal anomalies

Gene: SEL1L

Amber List (moderate evidence)
SEL1L (SEL1L ERAD E3 ligase adaptor subunit)
EnsemblGeneIds (GRCh38): ENSG00000071537
EnsemblGeneIds (GRCh37): ENSG00000071537
OMIM: 602329, Gene2Phenotype
SEL1L is in 2 panels

4 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

Alice Gardham (North West Thames Genetics)

I don't know

no further evidence of prenatal phenotype
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068; neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, MONDO:0976131

Publications

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

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
1 patient alobar holoprosencephaly. 1 patient ventriculomegaly. Microcephaly soon after birth, prob prenatal onset.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068
  • neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, MONDO:0976131
  • Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
OMIM
602329
Clinvar variants
Variants in SEL1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Added New Source, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to SEL1L. Added phenotypes Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068; neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, MONDO:0976131 for gene: SEL1L

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: SEL1L was added gene: SEL1L was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEL1L were set to 37943617; 37943610 Phenotypes for gene: SEL1L were set to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia