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  3. FAM222B
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Laterality disorders and isomerism

Gene: FAM222B

No list
FAM222B (family with sequence similarity 222 member B)
EnsemblGeneIds (GRCh38): ENSG00000173065
EnsemblGeneIds (GRCh37): ENSG00000173065
FAM222B is in 1 panel

1 review

Philippa May (Royal Brompton Hospital & Imperial College London)

Predominantly missense/in-frame deletions reported. Several consistent cases in CVA, frequently de novo - submitted to Diagnostic Discovery. Not currently on our NGS panel but likely to be added in next version.
Sources: Literature
Created: 27 Oct 2026, 1:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
situs inversus totalis; heterotaxy; isolated congenital heart defects

Publications

Created: 27 Oct 2026, 1:51 p.m.

Panel version: 5.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • situs inversus totalis
  • heterotaxy
  • isolated congenital heart defects
Clinvar variants
Variants in FAM222B
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

27 Oct 2026, Gel status: 0

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

Philippa May (Royal Brompton Hospital & Imperial College London)

gene: FAM222B was added gene: FAM222B was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: FAM222B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM222B were set to PMID: 42632841 Phenotypes for gene: FAM222B were set to situs inversus totalis; heterotaxy; isolated congenital heart defects Penetrance for gene: FAM222B were set to unknown