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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
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
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
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
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)
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)
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)
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)
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)
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)
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)
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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