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  2. CAKUT
  3. BMP7
STRs in panel
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CAKUT

Gene: BMP7

Red List (low evidence)
BMP7 (bone morphogenetic protein 7)
EnsemblGeneIds (GRCh38): ENSG00000101144
EnsemblGeneIds (GRCh37): ENSG00000101144
OMIM: 112267, Gene2Phenotype
BMP7 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: BMP7 was added to CAKUT panel and rated Red by Zornitza Stark. Updated rating from Grey to Red to match Zornitza's review: There are additional functional papers reporting a role for BMP7 in renal tissues, but only one reported family plus a mouse model.
Created: 31 Mar 2020, 8:19 a.m. | Last Modified: 31 Mar 2020, 8:19 a.m.
Panel Version: 1.49
PMID:7590254 (Dudley et al., 1995) report that mice lacking BMP7 display severe defects confined to the developing kidney and eye (renal dysplasia and anophthalmia at birth).
Created: 31 Mar 2020, 8:17 a.m. | Last Modified: 31 Mar 2020, 8:17 a.m.
Panel Version: 1.48
PMID:24429398 (Hwang et al., 2014) studied a cohort of 650 families with CAKUT, and found a BMP7 variant (p.E221K) in one family. Phenotype was UVJO (Ureterovesical Junction Obstruction) on the right and HD on the left.
Created: 31 Mar 2020, 8:17 a.m. | Last Modified: 31 Mar 2020, 8:17 a.m.
Panel Version: 1.48
Created: 31 Mar 2020, 8:17 a.m.
Last Modified: 31 Mar 2020, 8:17 a.m.
Panel version: 1.48

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single patient reported in a large series; mouse model supports pathogenicity.
Sources: Expert list
Created: 16 Jan 2020, 3:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CAKUT

Publications

Created: 16 Jan 2020, 3:18 a.m.

Panel version: 1.41

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • CAKUT
OMIM
112267
Clinvar variants
Variants in BMP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: bmp7 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: BMP7 was added gene: BMP7 was added to CAKUT. 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; 7590254 Phenotypes for gene: BMP7 were set to CAKUT Review for gene: BMP7 was set to RED