Fetal anomalies
Gene: MYBBP1A

MYBBP1A (MYB binding protein 1a)
EnsemblGeneIds (GRCh38): ENSG00000132382
EnsemblGeneIds (GRCh37): ENSG00000132382
OMIM: 604885, Gene2Phenotype
MYBBP1A is in 1 panel

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 25 Feb 2025, 11:15 a.m.
Last Modified: 25 Feb 2025, 11:15 a.m.
Panel version: 5.78

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough information for this gene to be green on this panel.
Created: 17 Sep 2024, 10:47 a.m. | Last Modified: 17 Sep 2024, 10:47 a.m.

Panel Version: 4.190

MYBBP1A variants have not previously been associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID 28425981 & 3919149 report five MYBBP1A variants as compound heterozygotes in three unrelated cases of Non-immune hydrops fetalis. The unaffected parents of two of the cases were heterozygous for the relevant MYBBP1A variant (PMID:3919149). Immunohistochemistry studies show that MYBBP1A is expressed during fetal development, suggesting that disruption of this expression may be responsible for the Fetal hydrops (PMID:3919149).
Created: 17 Sep 2024, 10:23 a.m. | Last Modified: 17 Sep 2024, 10:23 a.m.

Panel Version: 4.189

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-immune hydrops fetalis

Created: 17 Sep 2024, 10:23 a.m.
Last Modified: 17 Sep 2024, 10:23 a.m.
Panel version: 4.189

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Three fetuses have been reported with biallelic variants in MYBBP1A in association with oligohydramnios, cystic hygroma, pleural effusion, generalized hydrops, ascites, severe IUGR and skeletal anomalies (PMID 39191491;28425981).
Sources: Literature
Created: 2 Sep 2024, 10:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Sep 2024, 10:43 a.m.

Panel version: 4.188

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

non-immune hydrops fetalis, MONDO:0009369

Tags

gene-checked

OMIM

604885

Clinvar variants

Variants in MYBBP1A

Penetrance

None

Publications

Panels with this gene

Fetal anomalies