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  3. FRYL
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Fetal anomalies

Gene: FRYL

Amber List (moderate evidence)
FRYL (FRY like transcription coactivator)
EnsemblGeneIds (GRCh38): ENSG00000075539
EnsemblGeneIds (GRCh37): ENSG00000075539
FRYL is in 3 panels

3 reviews

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotype updated 20 Mar 2026.
Created: 20 Mar 2026, 11:16 a.m. | Last Modified: 20 Mar 2026, 11:16 a.m.
Panel Version: 6.177
Created: 20 Mar 2026, 11:16 a.m.
Last Modified: 20 Mar 2026, 11:16 a.m.
Panel version: 6.177

Achchuthan Shanmugasundram (Genomics England Curator)

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: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Bibb (C&S GLH)

I don't know

Amber on ID panel only, not OMIM Morbid. Not G2P or ClinGen disease gene. PMID: 38479391 some congenital anomalies described inconsistency between individuals, dominant feature was cardiac defects, other anomalies only detected in 1 or 2 individuals, 1 patient with horeshoe kidney, 1 with mild thinning of the corpus callosum and mild diffuse cerebral volume loss, 2 with jejunal atresia. The only prenatal complication was 1 pregnancy with short long bones. Other features include DD/ID, facial dysmorphism.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, FRYL-related

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pan-Chung-Bellen syndrome, OMIM:621049
  • Pan-Chung-Bellen syndrome, MONDO:0975953
Clinvar variants
Variants in FRYL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 2

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked was removed from gene: FRYL.

20 Mar 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: FRYL were changed from Neurodevelopmental disorder, MONDO:0700092, FRYL-related to Pan-Chung-Bellen syndrome, OMIM:621049; Pan-Chung-Bellen syndrome, MONDO:0975953

19 Mar 2026, Gel status: 2

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked tag was added to gene: FRYL.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FRYL was added gene: FRYL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FRYL were set to 38479391 Phenotypes for gene: FRYL were set to Neurodevelopmental disorder, MONDO:0700092, FRYL-related