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  3. BMP4
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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with LoF variants and variable features of syndromic microphthalmia.

Note other gene-disease associations have been postulated, but some are linked to missense variants and others to truncating variants, so mechanism may be different.
Created: 27 May 2024, 2:17 a.m. | Last Modified: 27 May 2024, 2:17 a.m.
Panel Version: 0.5908

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, syndromic 6, MIM# 607932

Publications

Created: 27 May 2024, 2:17 a.m.
Last Modified: 27 May 2024, 2:17 a.m.
Panel version: 0.5908

Hali Van Niel (University of Melbourne)

I don't know

Previous reported gene disease association with microphthalmia with brain and digit anomalies (18252212, 21340693) (PMID 31053785: case study and review of literature, 5 probands mild to moderate intellectual disability presentation with large deletions and LoF AD variants in BMP4)

however PMID 34926457: suggest heterozygous BMP4 truncations contribute to pathologic myopia phenotype rather than microphthalmia.
Reports of association with Stickler syndrome, features of myopia (36140739, 30568244)
children with Stickler syndrome can have learning disabilities but are typically attributed to their vision and hearing impairments, unclear monogenic link (37107605)
Created: 23 May 2024, 5:47 a.m. | Last Modified: 23 May 2024, 5:47 a.m.
Panel Version: 0.5898

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 23 May 2024, 5:47 a.m.
Last Modified: 23 May 2024, 5:47 a.m.
Panel version: 0.5898

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microphthalmia, syndromic 6, MIM# 607932
OMIM
112262
Clinvar variants
Variants in BMP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP4 were changed from Microphthalmia, syndromic 6, MIM# 607932 to Microphthalmia, syndromic 6, MIM# 607932

27 May 2024, 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).

27 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932

27 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BMP4 were set to

27 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BMP4 was added gene: BMP4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BMP4 was set to Unknown