Clefting disorders
Gene: BMP4EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are associated with both syndromic and non-syndromic CL/P. Note some of the variants reported with isolated CL/P are susceptibility alleles.Created: 6 Feb 2021, 4:27 a.m. | Last Modified: 6 Feb 2021, 4:27 a.m.
Panel Version: 0.58
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Orofacial cleft 11 600625
- Microphthalmia, syndromic 6, MIM# 607932
- OMIM
- 112262
- Clinvar variants
- Variants in BMP4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Anophthalmia_Microphthalmia_Coloboma
- Polydactyly
- Fetal anomalies
- Clefting disorders
- Mendeliome
- Eye Anterior Segment Abnormalities
- Pituitary hormone deficiency
- Intellectual disability syndromic and non-syndromic
- Callosome
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Pierre Robin Sequence
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmp4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BMP4 were changed from Cleft lip with or without cleft palate, non syndromic, 11; MCOPS6, OROFACIAL CLEFT 11; OFC11; Orofacial Cleft; Cleft Lip with or without Cleft Palate; Cleft lip; MICROPHTHALMIA, SYNDROMIC 6; Orofacial cleft 11, 600625 to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BMP4 were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmp4 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BMP4 was added gene: BMP4 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP4 were set to Cleft lip with or without cleft palate, non syndromic, 11; MCOPS6, OROFACIAL CLEFT 11; OFC11; Orofacial Cleft; Cleft Lip with or without Cleft Palate; Cleft lip; MICROPHTHALMIA, SYNDROMIC 6; Orofacial cleft 11, 600625