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Fetal anomalies v1.836 | GALNT2 | Arina Puzriakova Tag for-review was removed from gene: GALNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | B3GALNT2 | Arina Puzriakova Tag for-review was removed from gene: B3GALNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | GALNT2 | Arina Puzriakova commented on gene: GALNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.836 | B3GALNT2 | Arina Puzriakova commented on gene: B3GALNT2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.835 | GALNT2 |
Arina Puzriakova Source Expert Review Green was added to GALNT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.835 | B3GALNT2 |
Arina Puzriakova Source Expert Review Green was added to B3GALNT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v1.396 | GALNT2 | Sarah Leigh Classified gene: GALNT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.396 | GALNT2 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.396 | GALNT2 | Sarah Leigh Gene: galnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.395 | GALNT2 | Sarah Leigh Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation, type IIt to Congenital disorder of glycosylation, type IIt OMIM:618885 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.394 | GALNT2 | Sarah Leigh Publications for gene: GALNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.393 | GALNT2 | Sarah Leigh reviewed gene: GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.393 | GALNT2 | Sarah Leigh Tag for-review tag was added to gene: GALNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.326 | B3GALNT2 | Arina Puzriakova Phenotypes for gene: B3GALNT2 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.325 | B3GALNT2 | Arina Puzriakova Classified gene: B3GALNT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.325 | B3GALNT2 | Arina Puzriakova Gene: b3galnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.324 | B3GALNT2 | Arina Puzriakova Tag for-review tag was added to gene: B3GALNT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.229 | B3GALNT2 | Rhiannon Mellis reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v1.215 | GALNT2 |
Rhiannon Mellis gene: GALNT2 was added gene: GALNT2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt Review for gene: GALNT2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list |
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Fetal anomalies v0.9 | B3GALNT2 | Rebecca Foulger reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | B3GALNT2 |
Rebecca Foulger gene: B3GALNT2 was added gene: B3GALNT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 |