Paediatric disorders - additional genes
Gene: ACEEnsemblGeneIds (GRCh38): ENSG00000159640
EnsemblGeneIds (GRCh37): ENSG00000159640
OMIM: 106180, Gene2Phenotype
ACE is in 9 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.
Panel Version: 1.96
Rebecca Foulger (Genomics England curator)
Comment on list classification: Key papers report renal tubular dysgenesis. In absence of additional morphological features, keep Amber awaiting GLH review.Created: 14 May 2020, 1:13 p.m. | Last Modified: 14 May 2020, 1:13 p.m.
Panel Version: 1.24
PMID:30058238 (Bhowmik et al., 2018) report a 32-week old fetus with severe early onset oligohydramnios. A similarly affected sibling was reported from a previous pregnancy. Exome sequencing revealed a homozygous 3' splice-site variant in intron 17 of ACE gene, which confirmed AR renal tubular dysgenesis. It also facilitated prenatal diagnosis in a subsequent pregnancy.Created: 14 May 2020, 1:10 p.m. | Last Modified: 14 May 2020, 1:10 p.m.
Panel Version: 1.23
PMID:16116425. Gribouval et al. 2005 studied 9 families (11 indivs) with AR renal tubular dysgenesis, and found variants in REN, AGT, ACE or AGTR1.Created: 14 May 2020, 1:10 p.m. | Last Modified: 14 May 2020, 1:10 p.m.
Panel Version: 1.23
Added 'for-review' tag: Requires GLH review for inclusion on Paediatric disorders panel: whether CAKUT phenotype presents alongside additional congenital malformations.Created: 12 May 2020, 4:14 p.m. | Last Modified: 12 May 2020, 7:31 p.m.
Panel Version: 1.17
Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106.Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.
Panel Version: 1.4
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- CAKUT
- Renal Tubular Dysgenesis
- OMIM
- 106180
- Clinvar variants
- Variants in ACE
- Penetrance
- None
- Publications
- Panels with this gene
-
- Unexplained young onset end-stage renal disease - additional genes
- Familial hypercholesterolaemia
- Paediatric disorders - additional genes
- Unexplained kidney failure in young people
- Fetal anomalies
- COVID-19 research
- Cerebral vascular malformations
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- CAKUT
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: ACE.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to ACE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ace has been classified as Amber List (Moderate Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: ACE were set to 16116425; 22095942
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: ACE were set to
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ace has been classified as Amber List (Moderate Evidence).
Added Tag
Rebecca Foulger (Genomics England curator)Tag for-review tag was added to gene: ACE.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ACE was added gene: ACE was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACE were set to CAKUT; Renal Tubular Dysgenesis