Fetal anomalies
Gene: HOXB1

HOXB1 (homeobox B1)
EnsemblGeneIds (GRCh38): ENSG00000120094
EnsemblGeneIds (GRCh37): ENSG00000120094
OMIM: 142968, Gene2Phenotype
HOXB1 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for FACIAL PARESIS, HEREDITARY CONGENITAL, 3
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

FACIAL PARESIS, HEREDITARY CONGENITAL, 3

OMIM

142968

Clinvar variants

Variants in HOXB1

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: HOXB1 was added gene: HOXB1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3

Fetal anomalies Gene: HOXB1