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Mendeliome

Gene: HOXB1

Green List (high evidence)

HOXB1 (homeobox B1)
EnsemblGeneIds (GRCh38): ENSG00000120094
EnsemblGeneIds (GRCh37): ENSG00000120094
OMIM: 142968, Gene2Phenotype
HOXB1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome, but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve.

At least 4 unrelated families reported.
Created: 17 Dec 2021, 12:02 a.m. | Last Modified: 17 Dec 2021, 12:02 a.m.
Panel Version: 0.10268

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Facial paresis, hereditary congenital, 3, MIM# 614744

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Facial paresis, hereditary congenital, 3, MIM# 614744
  • MONDO:0013880
OMIM
142968
Clinvar variants
Variants in HOXB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hoxb1 has been classified as Green List (High Evidence).

17 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HOXB1 were set to

17 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HOXB1 were changed from to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880

17 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HOXB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HOXB1 was added gene: HOXB1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HOXB1 was set to Unknown