Activity
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16 actions
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| Fetal anomalies v6.157 | LIFR | Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: LIFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.157 | LIFR |
Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The GMS reviewers noted as follows: Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only.; to: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains BIALLELIC, autosomal or pseudoautosomal. The GMS reviewers noted as follows: Biallelic LoF variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. Monoallelic variants are reported in association with CAKUT - de novo frameshift in one case with bilateral CAKUT and two rare missense variants in 3 further cases (PMID:28334964). Gene is not depleted for LoF variants and >50 variants that are classified as (likely) pathogenic in ClinVar are present in the heterozygous state in gnomAD. If there is a genuine association between monoallelic LoF variants and CAKUT, penetrance must be low. MOI should remain as biallelic only. |
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| Fetal anomalies v6.157 | LIFR | Achchuthan Shanmugasundram commented on gene: LIFR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.122 | LIFR |
Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: LIFR. Tag Q2_22_expert_review was removed from gene: LIFR. |
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| Fetal anomalies v2.10 | LIFR | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: LIFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.10 | LIFR | Arina Puzriakova commented on gene: LIFR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.856 | LIFR | Eleanor Williams Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome; Schwartz-Jampel type 2 syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.855 | LIFR | Eleanor Williams Publications for gene: LIFR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.854 | LIFR |
Eleanor Williams changed review comment from: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only. GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis.; to: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only. GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis. The paper describing the CAKUT cases is PMID: 28334964 (Kosfeld et al 2017). |
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| Fetal anomalies v1.854 | LIFR | Eleanor Williams commented on gene: LIFR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.854 | LIFR | Eleanor Williams Tag Q2_22_MOI tag was added to gene: LIFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.854 | LIFR | Eleanor Williams Tag Q2_22_expert_review tag was added to gene: LIFR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | LIFR | Rebecca Foulger edited their review of gene: LIFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | LIFR | Rebecca Foulger reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | LIFR | Rebecca Foulger Added phenotypes Schwartz-Jampel type 2 syndrome for gene: LIFR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | LIFR |
Rebecca Foulger gene: LIFR was added gene: LIFR was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome |
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