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| Ductal plate malformation v1.25 | CLCNKB | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.20 | TULP3 | Achchuthan Shanmugasundram Phenotypes for gene: TULP3 were changed from cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy to Hepatorenocardiac degenerative fibrosis, OMIM:619902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.19 | TULP3 | Achchuthan Shanmugasundram reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35397207, 36276950, 36460032; Phenotypes: Hepatorenocardiac degenerative fibrosis, OMIM:619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.14 | KIF14 | Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12 (616258) to Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v1.9 | SEC61B | Ivone Leong Added phenotypes Association with polycystic liver disease 1 with or without renal cysts for gene: SEC61B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.58 | SEC61B | Ivone Leong Added comment: Comment when marking as ready: There is currently not enough evidence to promote SEC61B to a green gene; therefore, have applied the 'Watchlist' tag. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.56 | RPGRIP1L | Ivone Leong Added comment: Comment when marking as ready: RPGRIP1L is a causative gene of Meckel syndrome and different variants have been reported in this gene associated with this syndrome in 3+ unrelated patients (PMID:17558409, 19574260). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.54 | PRKCSH | Ivone Leong Added comment: Comment on publications: Four studies reporting on 6 different patients who have polycystic liver disease with different variants in PRKCSH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.43 | PKHD1 | Ivone Leong Added comment: Comment on mode of inheritance: Changed from Biallelic to Both monoallelic and biallelic as a paper provided by Bill Griffiths (Cambridge University Hospitals) reported 2 probands who have Ductal plate malformation with different heterozygous variants (1 a small deletion and another a missense variant) in the PKHD1 gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.35 | LRP5 | Bill Griffiths reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24706814; Phenotypes: Polycystic liver, renal cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.35 | ALG8 | Bill Griffiths reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28375157; Phenotypes: Polycystic liver disease, renal cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.33 | DGUOK |
Ivone Leong Added comment: Comment on list classification: Promoted from amber to green. DGUOK is a green gene on the 'Undiagnosed metabolic disorders' and 'Mitochondrial disorders' panels. Dr Bill Griffiths (Addenbrooke's Hospital, Cambridge, UK) suggested: DGUOK based on OMIM 617068 and the description and reference within that entry. In one study (30234759) showed 2 unrelated families with 3 affected members (all by consanguineous parents) have portal hypertension. The DGUOK variant is a missense mutation. No functional studies were performed. In a second study (17073823) a proband showed liver fibrosis and compound missense mutations in DGUOK (one of which was the same missense mutation found in 30234759). In vitro studies were performed using fibroblasts taken from patient, which showed that the variant caused reduced enzyme activity. |
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| Ductal plate malformation v0.27 | REN |
Ivone Leong Source Expert Review Red was added to REN. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Ductal plate malformation v0.26 | REN | Ivone Leong reviewed gene: REN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.25 | SLC4A1 |
Ivone Leong gene: SLC4A1 was added gene: SLC4A1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR (611590); Renal tubular acidosis, distal, AD (179800) |
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| Ductal plate malformation v0.25 | SIX5 |
Ivone Leong gene: SIX5 was added gene: SIX5 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2 (610896) |
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| Ductal plate malformation v0.25 | PAX2 |
Ivone Leong gene: PAX2 was added gene: PAX2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX2 were set to Glomerulosclerosis, focal segmental, 7 (616002); Papillorenal syndrome (120330) |
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| Ductal plate malformation v0.25 | EYA1 |
Ivone Leong gene: EYA1 was added gene: EYA1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EYA1 were set to Branchiootic syndrome 1 (602588); Branchiootorenal syndrome 1, with or without cataracts (113650) |
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| Ductal plate malformation v0.25 | CLDN19 |
Ivone Leong gene: CLDN19 was added gene: CLDN19 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement (248190) |
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| Ductal plate malformation v0.25 | CLDN16 |
Ivone Leong gene: CLDN16 was added gene: CLDN16 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN16 were set to Hypomagnesemia 3, renal (248250) |
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| Ductal plate malformation v0.25 | BSND |
Ivone Leong gene: BSND was added gene: BSND was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to Bartter syndrome, type 4a (602522); Sensorineural deafness with mild renal dysfunction (602522) |
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| Ductal plate malformation v0.25 | BICC1 |
Ivone Leong gene: BICC1 was added gene: BICC1 was added to Ductal plate malformation (DPM). Sources: Expert list Mode of inheritance for gene: BICC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to} (601331) |
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| Ductal plate malformation v0.20 | SEC61B | Ivone Leong Phenotypes for gene: SEC61B were changed from Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050) to Association with polycystic liver disease 1 with or without renal cysts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.2 | SEC61B |
Ivone Leong gene: SEC61B was added gene: SEC61B was added to Ductal plate malformation (DPM). Sources: Expert list,Literature Mode of inheritance for gene: SEC61B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SEC61B were set to Association with polycystic liver disease 1 with or without renal cysts (VUS) (174050) |
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| Ductal plate malformation v0.2 | REN |
Ivone Leong gene: REN was added gene: REN was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: REN were set to Renal tubular dysgenesis (267430) |
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| Ductal plate malformation v0.2 | NPHP3 |
Ivone Leong gene: NPHP3 was added gene: NPHP3 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1 (208540); Nephronophthisis 3 (604387); Meckel syndrome 7 (267010) |
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| Ductal plate malformation v0.2 | NEK8 |
Ivone Leong gene: NEK8 was added gene: NEK8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to ?Nephronophthisis 9 (613824); Renal-hepatic-pancreatic dysplasia 2 (615415) |
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| Ductal plate malformation v0.2 | HNF1B |
Ivone Leong gene: HNF1B was added gene: HNF1B was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome (137920) |
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| Ductal plate malformation v0.2 | AGT |
Ivone Leong gene: AGT was added gene: AGT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGT were set to Renal tubular dysgenesis (267430) |
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