Paediatric disorders - additional genes
Gene: ACTG2The 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: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 2:49 p.m. | Last Modified: 20 Oct 2020, 2:49 p.m.
Panel Version: 1.60
Comment on list classification: Updated rating from Amber to Green based on papers demonstrating a role in MMIHS (e.g. PMID:27481187, 25998219), thereby broadening phenotype from isolated CAKUT.Created: 14 May 2020, 1:27 p.m. | Last Modified: 14 May 2020, 1:27 p.m.
Panel Version: 1.26
PMID:27481187 Moreno et al., 2016. In 3 individuals with MMIHS and in 1 with chronic intestinal pseudo-obstruction (CIPO) they identified a heterozygous variant in ACTG2, one being a novel variant (c.584C>T-p.Thr195Ile).Created: 14 May 2020, 1:25 p.m. | Last Modified: 14 May 2020, 1:25 p.m.
Panel Version: 1.25
PMID:25998219. Tuzovic et al identify a heterozygous de novo missense variant in ACTG2 (p.Arg257His) in 2 siblings with MMIHS. 2 additional missense variants in ACTG2 (p.Arg257Cys and p.Arg178His) were identified in 2 additional MMIHS patients. All patients had evidence of fetal megacystis. Additional findings included bilateral renal hydronephrosis, an enlarged fetal stomach, and transient dilated bowel loops. Note that in OMIM, MMIHS (MIM:249210) is associated with MYLK.Created: 12 May 2020, 7:40 p.m. | Last Modified: 14 May 2020, 1:14 p.m.
Panel Version: 1.24
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, 4:15 p.m. | Last Modified: 12 May 2020, 7:43 p.m.
Panel Version: 1.19
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: ACTG2.
Source Expert Review Green was added to ACTG2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: actg2 has been classified as Amber List (Moderate Evidence).
Gene: actg2 has been classified as Green List (High Evidence).
Publications for gene: ACTG2 were set to 25998219
Phenotypes for gene: ACTG2 were changed from CAKUT; Megacystis-microcolon intestinal hypoperistalsis syndrome; visceral myopathy; Berdon syndrome to CAKUT; Megacystis-microcolon intestinal hypoperistalsis syndrome; Visceral myopathy, 155310; Berdon syndrome
Gene: actg2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ACTG2.
gene: ACTG2 was added gene: ACTG2 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG2 were set to 25998219 Phenotypes for gene: ACTG2 were set to CAKUT; Megacystis-microcolon intestinal hypoperistalsis syndrome; visceral myopathy; Berdon syndrome