Activity

Filter

Cancel
Date Panel Item Activity
31 actions
Fetal anomalies v1.836 ALG9 Arina Puzriakova Tag for-review was removed from gene: ALG9.
Fetal anomalies v1.836 ALG9 Arina Puzriakova commented on gene: ALG9
Fetal anomalies v1.835 ALG9 Arina Puzriakova Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v1.229 ALG9 Rhiannon Mellis reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Il, 608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.81 ALG9 Catherine Snow Tag for-review tag was added to gene: ALG9.
Fetal anomalies v1.81 ALG9 Catherine Snow Classified gene: ALG9 as Amber List (moderate evidence)
Fetal anomalies v1.81 ALG9 Catherine Snow Added comment: Comment on list classification: Change from Green to Amber as requested by NHSE for sign-off panel
Fetal anomalies v1.81 ALG9 Catherine Snow Gene: alg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.53 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to Gillessen-Kaesbach-Nishimura syndrome, 263210; AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.52 ALG9 Rebecca Foulger changed review comment from: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.; to: Comment on list classification: ALG9 congenital disorder of glycosylation has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
Fetal anomalies v1.52 ALG9 Rebecca Foulger Classified gene: ALG9 as Green List (high evidence)
Fetal anomalies v1.52 ALG9 Rebecca Foulger Added comment: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
Fetal anomalies v1.52 ALG9 Rebecca Foulger Gene: alg9 has been classified as Green List (High Evidence).
Fetal anomalies v1.51 ALG9 Rebecca Foulger Deleted their comment
Fetal anomalies v1.51 ALG9 Rebecca Foulger Tag for-review was removed from gene: ALG9.
Fetal anomalies v1.51 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.50 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to 26453364; 31420886
Fetal anomalies v1.49 ALG9 Rebecca Foulger changed review comment from: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero
, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.; to: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
Fetal anomalies v1.49 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero
, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
Fetal anomalies v1.49 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:25966638 (Tham et al) performed fetal autopsy on 3 affected fetuses who died in utero from 2 unrelated families (from Turkey and Iraq) with Gillessen-Kaesbach-Nishimura syndrome (AR lethal skeletal dysplasia). All patients were homozygous for a splicing variant in ALG9 (NM_024740.2: c.1173+2T>A).
Fetal anomalies v1.49 ALG9 Rebecca Foulger Tag for-review tag was added to gene: ALG9.
Fetal anomalies v1.49 ALG9 Rebecca Foulger Classified gene: ALG9 as Amber List (moderate evidence)
Fetal anomalies v1.49 ALG9 Rebecca Foulger Added comment: Comment on list classification: Inborn errors of glycosylation can be a cause of non‐immune hydrops fetalis. Although G2P has a 'probable' GDA rating, there is sufficient evidence to link ALG9 to a glycosylation disorder. Approx 20% of cases show non-immune hydrops fetalis (NIHF). In PMID:26453364, 1/10 patients had NIHF: the patient was one of 4 patients within a consanguineous family and hydrops was not reported for the other 3 cousins. 3/15 ALG9 families reported with hydrops in PMID:31420886. Since phenotype is inconsistent, have kept rating as Amber awaiting further clinical review as to whether there are sufficient cases for inclusion on Fetal anomalies panel.
Fetal anomalies v1.49 ALG9 Rebecca Foulger Gene: alg9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.48 ALG9 Rebecca Foulger Publications for gene: ALG9 were set to
Fetal anomalies v1.47 ALG9 Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG to ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
Fetal anomalies v1.46 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:31420886 Makhamreh et al., 2020 provide a literature review of Nonimmune hydrops fetalis (NIHF) and congenital disorders of glycosylation. 3/15 families had NIHF and ALG9 variants (20%). Full text unavailable at time of curation.
Fetal anomalies v1.46 ALG9 Rebecca Foulger commented on gene: ALG9: PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. Patient IV:3/patient4 (a male cousin of the index patient) presented with nonimmune hydrops fetalis diagnosed by fetal US at 28 weeks, and a novel homozygous variant p.E350K in the ALG9 gene. Table 2 doesn't list Hydrops in any of the previous patients.
Fetal anomalies v1.0 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26453364, 31420886; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.9 ALG9 Rebecca Foulger reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 ALG9 Rebecca Foulger gene: ALG9 was added
gene: ALG9 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to ALG9-CDG