Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: BMP7EnsemblGeneIds (GRCh38): ENSG00000101144
EnsemblGeneIds (GRCh37): ENSG00000101144
OMIM: 112267, Gene2Phenotype
BMP7 is in 4 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
only 1 family with mouse model in large cohort of CAKUT.Created: 16 Jan 2020, 3:17 a.m. | Last Modified: 16 Jan 2020, 3:18 a.m.
Panel Version: 0.24
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT
Publications
- PMID: 24429398
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals from one family; mouse model.
Sources: Expert listCreated: 28 Nov 2019, 3:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital abnormalities of the kidneys and urinary tract
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Congenital abnormalities of the kidneys and urinary tract
- OMIM
- 112267
- Clinvar variants
- Variants in BMP7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmp7 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: bmp7 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmp7 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmp7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BMP7 was added gene: BMP7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert list Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 24429398 Phenotypes for gene: BMP7 were set to Congenital abnormalities of the kidneys and urinary tract Review for gene: BMP7 was set to AMBER