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  2. Hydrops fetalis
  3. MYBBP1A
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Hydrops fetalis

Gene: MYBBP1A

Green List (high evidence)
MYBBP1A (MYB binding protein 1a)
EnsemblGeneIds (GRCh38): ENSG00000132382
EnsemblGeneIds (GRCh37): ENSG00000132382
OMIM: 604885, Gene2Phenotype
MYBBP1A is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated fetuses with bi-allelic variants in this gene and severe hydrops.
Sources: Literature
Created: 4 Sep 2024, 6:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrops fetalis, MONDO:0015193, MYBBP1A-related

Publications

Created: 4 Sep 2024, 6:44 a.m.

Panel version: 0.318

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydrops fetalis, MONDO:0015193, MYBBP1A-related
OMIM
604885
Clinvar variants
Variants in MYBBP1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybbp1a has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybbp1a has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mybbp1a has been classified as Green List (High Evidence).

4 Sep 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYBBP1A was added gene: MYBBP1A was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBBP1A were set to 39191491; 28425981 Phenotypes for gene: MYBBP1A were set to Hydrops fetalis, MONDO:0015193, MYBBP1A-related Review for gene: MYBBP1A was set to GREEN