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  3. FAM50A
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Fetal anomalies

Gene: FAM50A

Amber List (moderate evidence)
FAM50A (family with sequence similarity 50 member A)
EnsemblGeneIds (GRCh38): ENSG00000071859
EnsemblGeneIds (GRCh37): ENSG00000071859
OMIM: 300453, Gene2Phenotype
FAM50A is in 3 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

Louise Carr (North Thames Genomic Medicine Service)

I don't know

In addition to literature cases, VUS identified on R14 in 1 West Midlands patient with partial anomalous pulmonary venous return, absent radius, absent thumb, bilateral talipes, scoliosis, butterfly vertebrae, supernumerary ribs, intellectual disability and arachnoid cyst. only one paper but lots of cases good functional analysis and lots of structural abnormalites. The reported phenotype in the R14 case is not similar to the phenotype described in the literature (postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities and seizures. The paper also reported functional work. Waiting for more cases to support the R14 case.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Armfield type of X-linked syndromic intellectual developmental disorder, OMIM:300261

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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Armfield type of X-linked syndromic intellectual developmental disorder, OMIM:300261
OMIM
300453
Clinvar variants
Variants in FAM50A
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: FAM50A was added gene: FAM50A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FAM50A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FAM50A were set to 32703943 Phenotypes for gene: FAM50A were set to Armfield type of X-linked syndromic intellectual developmental disorder, OMIM:300261