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Clefting disorders

Gene: BMP4

Green List (high evidence)

BMP4 (bone morphogenetic protein 4)
EnsemblGeneIds (GRCh38): ENSG00000125378
EnsemblGeneIds (GRCh37): ENSG00000125378
OMIM: 112262, Gene2Phenotype
BMP4 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp4 has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 3

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

6 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BMP4 were set to

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp4 has been classified as Green List (High Evidence).

16 Sep 2020, Gel status: 1

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