Paediatric disorders - additional genes
Gene: ACEThe 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
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
Tag for-review was removed from gene: ACE.
Source Expert Review Green was added to ACE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ace has been classified as Amber List (Moderate Evidence).
Publications for gene: ACE were set to 16116425; 22095942
Publications for gene: ACE were set to
Gene: ace has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ACE.
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