Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: IFRD1

IFRD1 (interferon related developmental regulator 1)
EnsemblGeneIds (GRCh38): ENSG00000006652
EnsemblGeneIds (GRCh37): ENSG00000006652
OMIM: 603502, Gene2Phenotype
IFRD1 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A de novo variant was identified in a cohort of patients with lambdoid synostosis (p.Gly6fs*) (PMID:35997807).
Sources: Literature
Created: 23 Jul 2023, 12:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 12:13 p.m.

Panel version: 4.136

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

603502

Clinvar variants

Variants in IFRD1

Penetrance

None

Publications

Panels with this gene

Rare syndromic craniosynostosis or isolated multisuture synostosis

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IFRD1 was added gene: IFRD1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFRD1 were set to 35997807; 36980886 Phenotypes for gene: IFRD1 were set to craniosynostosis, MONDO:0015469 Review for gene: IFRD1 was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: IFRD1