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Polycystic liver disease v1.27 | Eleanor Williams Panel version 1.26 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.26 |
Eleanor Williams Panel name changed from Iron metabolism disorders - NOT common HFE mutations to Polycystic liver disease List of related panels changed from Polycystic liver disease interim; Polycystic liver disease; R173 to Polycystic liver disease interim; R173 |
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Polycystic liver disease v1.25 |
Catherine Snow Panel name changed from Polycystic liver disease to Iron metabolism disorders - NOT common HFE mutations List of related panels changed from Polycystic liver disease interim; R173 to Polycystic liver disease interim; Polycystic liver disease; R173 |
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Polycystic liver disease v1.24 |
Catherine Snow Panel name changed from Polycystic liver disease interim to Polycystic liver disease List of related panels changed from R173 to Polycystic liver disease interim; R173 |
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Polycystic liver disease v1.23 | ALG8 | Sarah Leigh reviewed gene: ALG8: Rating: ; Mode of pathogenicity: None; Publications: 15235028; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.23 | TERT | Ivone Leong Phenotypes for gene: TERT were changed from {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) to {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989; {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.22 | TERC | Ivone Leong Phenotypes for gene: TERC were changed from Dyskeratosiscongenita, autosomal dominant 1 (127550) to Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.21 | STN1 | Ivone Leong Phenotypes for gene: STN1 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) to Cerebroretinal microangiopathy with calcifications and cysts 2, OMIM:617341 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.20 | SEC61B | Ivone Leong Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts to Association with polycystic liver disease 1 with or without renal cysts; Polycystic liver disease 1, MONDO:0008265 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.19 | B9D1 | Ivone Leong Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 to ?Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.18 | ALG9 | Ivone Leong Phenotypes for gene: ALG9 were changed from ADPKD; PCLD to autosomal dominant polycystic kidney disease, MONDO:0004691; PCLD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.17 | SEC63 | Ivone Leong Phenotypes for gene: SEC63 were changed from Polycystic Liver Disease 2 with or without kidney cysts (617004) to Polycystic liver disease 2, OMIM:617004 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.16 | PRKCSH | Ivone Leong Phenotypes for gene: PRKCSH were changed from Polycystic Liver Disease 1 with or without kidney cysts (174050) to Polycystic liver disease 1 OMIM:174050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.15 | PKHD1 | Ivone Leong Phenotypes for gene: PKHD1 were changed from Polycystic kidney disease 4 with or without hepatic disease (263200) to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200; Caroli disease, MONDO:0010913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.14 | PKD2 | Ivone Leong Phenotypes for gene: PKD2 were changed from Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) to Polycystic kidney disease 2, OMIM:613095; liver cysts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.13 | PKD1 | Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913 to Polycystic kidney disease 1, OMIM:173900; Caroli disease, MONDO:0010913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.12 | PKD1 | Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) to Polycystic Kidney Disease 1 with or without polycystic liver disease, OMIM:173900; Caroli disease, MONDO:0010913 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.11 | LRP5 | Ivone Leong Phenotypes for gene: LRP5 were changed from Polycystic liver disease 4 with or without kidney cysts (617875) to Polycystic liver disease 4 with or without kidney cysts, OMIM:617875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.10 | GANAB | Ivone Leong Phenotypes for gene: GANAB were changed from Polycystic kidney disease 3 (600666) to Polycystic kidney disease 3, OMIM:600666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.9 | DNAJB11 | Ivone Leong Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.8 | ALG8 | Ivone Leong Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) to Polycystic liver disease 3 with or without kidney cysts, OMIM:617874 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.7 | B9D1 | Arina Puzriakova Phenotypes for gene: B9D1 were changed from ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.4 | Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.9 | Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.8 | STN1 | Ivone Leong changed review comment from: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.; to: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that STN1 will remain as an amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.8 | TERC | Ivone Leong changed review comment from: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.; to: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that TERC will remain as an amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.8 | TERT | Ivone Leong changed review comment from: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.; to: Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that TERT will remain as an amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.8 | ALG9 | Ivone Leong Classified gene: ALG9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.8 | ALG9 | Ivone Leong Gene: alg9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.7 | ALG9 | Ivone Leong Publications for gene: ALG9 were set to PMID: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.6 | ALG9 |
Miranda Durkie gene: ALG9 was added gene: ALG9 was added to Polycystic liver disease interim. Sources: Literature Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG9 were set to PMID: Phenotypes for gene: ALG9 were set to ADPKD; PCLD Penetrance for gene: ALG9 were set to unknown Review for gene: ALG9 was set to AMBER Added comment: Besse et al (2019) identified 2 LOF pathogenic variants in this candidate gene in a cohort of 122 patients with genetically unresolved ADPKD or PCLD. 1 patient with ADPKD and 1 patient with PCLD (immunerable liver cysts and 7:11 L:R kidney cysts). In vitro cell-based assays used to validate ALG9 loss causing abnormal biogenesis of PC1. They identified further LOF pathogenic variants in 14 additional cases from large population-based cohort where EHR data available. Only 1 of these 14 had liver cysts; partially imaged with 2 cysts (up to 1.1cm) and 4 "too small to characterise" lesions as well as 39 kidney cysts (liver ultrasound data not available for 2/14). Therefore appears to be predominantly polycystic kidney disease gene (though a mild presentation). However finding in 1 patient with classic PCLD may be similar to other genes in pathway where presentation between ADPKD and PCLD is variable. Need further cases before updating rating. Sources: Literature |
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Polycystic liver disease v0.6 | Ivone Leong List of related panels changed from to R173 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | DGUOK | Ivone Leong Marked gene: DGUOK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | DGUOK | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with portal hypertension. Therefore, this gene has been given a red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | DGUOK | Ivone Leong Gene: dguok has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | TMEM67 | Ivone Leong Marked gene: TMEM67 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | TMEM67 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | TMEM67 | Ivone Leong Gene: tmem67 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | RPGRIP1L | Ivone Leong Marked gene: RPGRIP1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | RPGRIP1L | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | RPGRIP1L | Ivone Leong Gene: rpgrip1l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | CC2D2A | Ivone Leong Marked gene: CC2D2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | CC2D2A | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | CC2D2A | Ivone Leong Gene: cc2d2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.4 | RPGRIP1L |
Ivone Leong gene: RPGRIP1L was added gene: RPGRIP1L was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPGRIP1L were set to 19574260; 17558409 Phenotypes for gene: RPGRIP1L were set to COACH syndrome (216360); Joubert syndrome 7 (611560); Meckel syndrome 5 (611561) |
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Polycystic liver disease v0.4 | DGUOK |
Ivone Leong gene: DGUOK was added gene: DGUOK was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DGUOK were set to 30234759; 17073823; 26874653 Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068) |
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Polycystic liver disease v0.4 | CC2D2A |
Ivone Leong gene: CC2D2A was added gene: CC2D2A was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CC2D2A were set to 19574260; 18513680 Phenotypes for gene: CC2D2A were set to COACH syndrome (216360); congenital hepatic fibrosis; Joubert syndrome 9 (612285); Meckel syndrome 6 (612284) |
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Polycystic liver disease v0.4 | TMEM67 |
Ivone Leong gene: TMEM67 was added gene: TMEM67 was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 16415887; 28680603; 19058225; 26191240 Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); congenital hepatic fibrosis; COACH syndrome (216360) |
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Polycystic liver disease v0.3 | TERT | Ivone Leong Marked gene: TERT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | TERT | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | TERT | Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | TERC | Ivone Leong Marked gene: TERC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | TERC | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | TERC | Ivone Leong Gene: terc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | STN1 | Ivone Leong Marked gene: STN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | STN1 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | STN1 | Ivone Leong Gene: stn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | SEC61B | Ivone Leong Marked gene: SEC61B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | SEC61B | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | SEC61B | Ivone Leong Gene: sec61b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | RTEL1 | Ivone Leong Marked gene: RTEL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | RTEL1 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | RTEL1 | Ivone Leong Gene: rtel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | B9D1 | Ivone Leong Marked gene: B9D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | B9D1 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | B9D1 | Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | SEC63 | Ivone Leong Marked gene: SEC63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | SEC63 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | SEC63 | Ivone Leong Gene: sec63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PRKCSH | Ivone Leong Marked gene: PRKCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PRKCSH | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PRKCSH | Ivone Leong Gene: prkcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKHD1 | Ivone Leong Marked gene: PKHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKHD1 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKHD1 | Ivone Leong Gene: pkhd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKD2 | Ivone Leong Marked gene: PKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKD2 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKD2 | Ivone Leong Gene: pkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKD1 | Ivone Leong Marked gene: PKD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKD1 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | PKD1 | Ivone Leong Gene: pkd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | LRP5 | Ivone Leong Marked gene: LRP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | LRP5 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | LRP5 | Ivone Leong Gene: lrp5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | GANAB | Ivone Leong Marked gene: GANAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | GANAB | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | GANAB | Ivone Leong Gene: ganab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | DNAJB11 | Ivone Leong Marked gene: DNAJB11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | DNAJB11 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | DNAJB11 | Ivone Leong Gene: dnajb11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | ALG8 | Ivone Leong Marked gene: ALG8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | ALG8 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.3 | ALG8 | Ivone Leong Gene: alg8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.2 | TERT |
Ivone Leong gene: TERT was added gene: TERT was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TERT were set to 21436073; 19936245; 21483807 Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) |
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Polycystic liver disease v0.2 | TERC |
Ivone Leong gene: TERC was added gene: TERC was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 21436073; 19936245; 22341970 Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550) |
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Polycystic liver disease v0.2 | STN1 |
Ivone Leong gene: STN1 was added gene: STN1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STN1 were set to 27432940 Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) |
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Polycystic liver disease v0.2 | SEC61B |
Ivone Leong gene: SEC61B was added gene: SEC61B was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEC61B were set to 28862642 Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts |
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Polycystic liver disease v0.2 | RTEL1 |
Ivone Leong gene: RTEL1 was added gene: RTEL1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 28495916 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) |
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Polycystic liver disease v0.2 | B9D1 |
Ivone Leong gene: B9D1 was added gene: B9D1 was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D1 were set to 21763481; 21493627 Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) |
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Polycystic liver disease v0.2 | DNAJB11 |
Ivone Leong gene: DNAJB11 was added gene: DNAJB11 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNAJB11 were set to 29706351 Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061) |
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Polycystic liver disease v0.2 | SEC63 |
Ivone Leong gene: SEC63 was added gene: SEC63 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEC63 were set to 15133510 Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004) |
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Polycystic liver disease v0.2 | PRKCSH |
Ivone Leong gene: PRKCSH was added gene: PRKCSH was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKCSH were set to 11047756; 29038287; 12529853; 12577059 Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050) |
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Polycystic liver disease v0.2 | PKHD1 |
Ivone Leong gene: PKHD1 was added gene: PKHD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PKHD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358 Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200) |
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Polycystic liver disease v0.2 | PKD2 |
Ivone Leong gene: PKD2 was added gene: PKD2 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD2 were set to 29321346 Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) |
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Polycystic liver disease v0.2 | PKD1 |
Ivone Leong gene: PKD1 was added gene: PKD1 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD1 were set to 8554072; 3178424; 9211343 Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) |
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Polycystic liver disease v0.2 | LRP5 |
Ivone Leong gene: LRP5 was added gene: LRP5 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LRP5 were set to 25920554 Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875) |
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Polycystic liver disease v0.2 | GANAB |
Ivone Leong gene: GANAB was added gene: GANAB was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GANAB were set to 29243290; 27259053; 28862642 Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666) |
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Polycystic liver disease v0.2 | ALG8 |
Ivone Leong gene: ALG8 was added gene: ALG8 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG8 were set to 28375157; 15235028 Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) |
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Polycystic liver disease v0.1 | Ivone Leong Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polycystic liver disease v0.0 |
Ivone Leong Added Panel Polycystic liver disease interim Set panel types to: GMS Rare Disease |