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Ductal plate malformation v1.28 DYNC2H1 Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly (613091) to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Ductal plate malformation v1.27 SLC12A3 Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3.
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Ductal plate malformation v1.27 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (263800) to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Ductal plate malformation v1.26 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Ductal plate malformation v1.26 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to
Ductal plate malformation v1.25 SLC12A3 Sarah Leigh commented on gene: SLC12A3
Ductal plate malformation v1.25 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
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 v1.25 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v1.24 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Ductal plate malformation v1.24 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v1.23 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090) to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Ductal plate malformation v1.22 TULP3 Achchuthan Shanmugasundram Classified gene: TULP3 as Green List (high evidence)
Ductal plate malformation v1.22 TULP3 Achchuthan Shanmugasundram Gene: tulp3 has been classified as Green List (High Evidence).
Ductal plate malformation v1.21 TULP3 Achchuthan Shanmugasundram Publications for gene: TULP3 were set to 36460032; 36276950; 35397207
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 v1.19 TULP3 John Sayer gene: TULP3 was added
gene: TULP3 was added to Ductal plate malformation. Sources: Expert list
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to 36460032; 36276950; 35397207
Phenotypes for gene: TULP3 were set to cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy
Penetrance for gene: TULP3 were set to Complete
Review for gene: TULP3 was set to GREEN
Added comment: Congenital hepatic fibrosis and ductal plate malformation is a common phenotype
See OMIM 604730
Sources: Expert list
Ductal plate malformation v1.19 CPT2 Arina Puzriakova Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile (600649); CPT II deficiency, lethal neonatal (608836) to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
Ductal plate malformation v1.18 JAG1 Arina Puzriakova Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 (118450) to Alagille syndrome 1, OMIM:118450
Ductal plate malformation v1.17 ACD Arina Puzriakova Phenotypes for gene: ACD were changed from ?Dyskeratosis congenita, autosomal dominant 6 (616553); ?Dyskeratosis congenita, autosomal recessive 7 (616553) to Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Ductal plate malformation v1.16 WDR35 Arina Puzriakova Tag curated_removed tag was added to gene: WDR35.
Ductal plate malformation v1.16 WDR34 Arina Puzriakova Tag curated_removed tag was added to gene: WDR34.
Ductal plate malformation v1.16 WDPCP Arina Puzriakova Tag curated_removed tag was added to gene: WDPCP.
Ductal plate malformation v1.16 TXNDC15 Arina Puzriakova Tag curated_removed tag was added to gene: TXNDC15.
Ductal plate malformation v1.16 TTC8 Arina Puzriakova Tag curated_removed tag was added to gene: TTC8.
Ductal plate malformation v1.16 TTC21B Arina Puzriakova Tag curated_removed tag was added to gene: TTC21B.
Ductal plate malformation v1.16 TMEM237 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM237.
Ductal plate malformation v1.16 TMEM231 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM231.
Ductal plate malformation v1.16 TMEM216 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM216.
Ductal plate malformation v1.16 TMEM138 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM138.
Ductal plate malformation v1.16 TMEM107 Arina Puzriakova Tag curated_removed tag was added to gene: TMEM107.
Ductal plate malformation v1.16 TCTN3 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN3.
Ductal plate malformation v1.16 TCTN2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN2.
Ductal plate malformation v1.16 TCTN1 Arina Puzriakova Tag curated_removed tag was added to gene: TCTN1.
Ductal plate malformation v1.16 TCTEX1D2 Arina Puzriakova Tag curated_removed tag was added to gene: TCTEX1D2.
Ductal plate malformation v1.16 SDCCAG8 Arina Puzriakova Tag curated_removed tag was added to gene: SDCCAG8.
Ductal plate malformation v1.16 OFD1 Arina Puzriakova Tag curated_removed tag was added to gene: OFD1.
Ductal plate malformation v1.16 NPHP4 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP4.
Ductal plate malformation v1.16 NPHP3 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP3.
Ductal plate malformation v1.16 NPHP1 Arina Puzriakova Tag curated_removed tag was added to gene: NPHP1.
Ductal plate malformation v1.16 NEK8 Arina Puzriakova Tag curated_removed tag was added to gene: NEK8.
Ductal plate malformation v1.16 NEK1 Arina Puzriakova Tag curated_removed tag was added to gene: NEK1.
Ductal plate malformation v1.16 MKS1 Arina Puzriakova Tag curated_removed tag was added to gene: MKS1.
Ductal plate malformation v1.16 MKKS Arina Puzriakova Tag curated_removed tag was added to gene: MKKS.
Ductal plate malformation v1.16 MAPKBP1 Arina Puzriakova Tag curated_removed tag was added to gene: MAPKBP1.
Ductal plate malformation v1.16 KIF7 Arina Puzriakova Tag curated_removed tag was added to gene: KIF7.
Ductal plate malformation v1.16 KIAA0586 Arina Puzriakova Tag curated_removed tag was added to gene: KIAA0586.
Ductal plate malformation v1.16 IQCB1 Arina Puzriakova Tag curated_removed tag was added to gene: IQCB1.
Ductal plate malformation v1.16 INVS Arina Puzriakova Tag curated_removed tag was added to gene: INVS.
Ductal plate malformation v1.16 INPP5E Arina Puzriakova Tag curated_removed tag was added to gene: INPP5E.
Ductal plate malformation v1.16 IFT80 Arina Puzriakova Tag curated_removed tag was added to gene: IFT80.
Ductal plate malformation v1.16 IFT52 Arina Puzriakova Tag curated_removed tag was added to gene: IFT52.
Ductal plate malformation v1.16 IFT172 Arina Puzriakova Tag curated_removed tag was added to gene: IFT172.
Ductal plate malformation v1.16 IFT140 Arina Puzriakova Tag curated_removed tag was added to gene: IFT140.
Ductal plate malformation v1.16 IFT122 Arina Puzriakova Tag curated_removed tag was added to gene: IFT122.
Ductal plate malformation v1.16 HYLS1 Arina Puzriakova Tag curated_removed tag was added to gene: HYLS1.
Ductal plate malformation v1.16 HNF1B Arina Puzriakova Tag curated_removed tag was added to gene: HNF1B.
Ductal plate malformation v1.16 EVC2 Arina Puzriakova Tag curated_removed tag was added to gene: EVC2.
Ductal plate malformation v1.16 EVC Arina Puzriakova Tag curated_removed tag was added to gene: EVC.
Ductal plate malformation v1.16 DYNC2LI1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2LI1.
Ductal plate malformation v1.16 DYNC2H1 Arina Puzriakova Tag curated_removed tag was added to gene: DYNC2H1.
Ductal plate malformation v1.16 DDX59 Arina Puzriakova Tag curated_removed tag was added to gene: DDX59.
Ductal plate malformation v1.16 CSPP1 Arina Puzriakova Tag curated_removed tag was added to gene: CSPP1.
Ductal plate malformation v1.16 CEP83 Arina Puzriakova Tag curated_removed tag was added to gene: CEP83.
Ductal plate malformation v1.16 CEP41 Arina Puzriakova Tag curated_removed tag was added to gene: CEP41.
Ductal plate malformation v1.16 CEP290 Arina Puzriakova Tag curated_removed tag was added to gene: CEP290.
Ductal plate malformation v1.16 CEP164 Arina Puzriakova Tag curated_removed tag was added to gene: CEP164.
Ductal plate malformation v1.16 CEP120 Arina Puzriakova Tag curated_removed tag was added to gene: CEP120.
Ductal plate malformation v1.16 CEP104 Arina Puzriakova Tag curated_removed tag was added to gene: CEP104.
Ductal plate malformation v1.16 C5orf42 Arina Puzriakova Tag curated_removed tag was added to gene: C5orf42.
Ductal plate malformation v1.16 C2CD3 Arina Puzriakova Tag curated_removed tag was added to gene: C2CD3.
Ductal plate malformation v1.16 BBS9 Arina Puzriakova Tag curated_removed tag was added to gene: BBS9.
Ductal plate malformation v1.16 BBS7 Arina Puzriakova Tag curated_removed tag was added to gene: BBS7.
Ductal plate malformation v1.16 BBS5 Arina Puzriakova Tag curated_removed tag was added to gene: BBS5.
Ductal plate malformation v1.16 BBS4 Arina Puzriakova Tag curated_removed tag was added to gene: BBS4.
Ductal plate malformation v1.16 BBS2 Arina Puzriakova Tag curated_removed tag was added to gene: BBS2.
Ductal plate malformation v1.16 BBS12 Arina Puzriakova Tag curated_removed tag was added to gene: BBS12.
Ductal plate malformation v1.16 BBS10 Arina Puzriakova Tag curated_removed tag was added to gene: BBS10.
Ductal plate malformation v1.16 BBS1 Arina Puzriakova Tag curated_removed tag was added to gene: BBS1.
Ductal plate malformation v1.16 B9D2 Arina Puzriakova Tag curated_removed tag was added to gene: B9D2.
Ductal plate malformation v1.16 ARL6 Arina Puzriakova Tag curated_removed tag was added to gene: ARL6.
Ductal plate malformation v1.16 ARL13B Arina Puzriakova Tag curated_removed tag was added to gene: ARL13B.
Ductal plate malformation v1.16 ANKS6 Arina Puzriakova Tag curated_removed tag was added to gene: ANKS6.
Ductal plate malformation v1.16 ALMS1 Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1.
Ductal plate malformation v1.16 AHI1 Arina Puzriakova Tag curated_removed tag was added to gene: AHI1.
Ductal plate malformation v1.16 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
Ductal plate malformation v1.16 CCDC114 Catherine Snow commented on gene: CCDC114
Ductal plate malformation v1.16 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
Ductal plate malformation v1.16 LRRC6 Catherine Snow commented on gene: LRRC6
Ductal plate malformation v1.16 IFT52 Arina Puzriakova Phenotypes for gene: IFT52 were changed from Short-rib thoracic dysplasia 16 with or without polydactyly (617102) to Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102; Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Ductal plate malformation v1.15 TCTEX1D2 Arina Puzriakova Phenotypes for gene: TCTEX1D2 were changed from Short-rib thoracic dysplasia 17 with or without polydactyly (617405) to Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565
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 v1.13 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
Ductal plate malformation v1.12 B9D2 Arina Puzriakova Phenotypes for gene: B9D2 were changed from Joubert syndrome 34 (614175); ?Meckel syndrome 10 (614175) to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Ductal plate malformation v1.11 NOP10 Arina Puzriakova Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1 (224230) to Dyskeratosis congenita, autosomal recessive 1, 224230
Ductal plate malformation v1.10 WDR34 Catherine Snow commented on gene: WDR34
Ductal plate malformation v1.10 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
Ductal plate malformation v1.9 TERT Ivone Leong Source NHS GMS was added to TERT.
Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT
Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807
Ductal plate malformation v1.9 TERC Ivone Leong Source NHS GMS was added to TERC.
Added phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) for gene: TERC
Publications for gene TERC were changed from 22341970; 21436073; 19936245 to 21436073; 19936245; 22341970
Ductal plate malformation v1.9 STN1 Ivone Leong Source NHS GMS was added to STN1.
Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) for gene: STN1
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 v1.9 RTEL1 Ivone Leong Source NHS GMS was added to RTEL1.
Added phenotypes Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190) for gene: RTEL1
Ductal plate malformation v1.9 B9D1 Ivone Leong Source NHS GMS was added to B9D1.
Added phenotypes ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120) for gene: B9D1
Publications for gene B9D1 were changed from 21493627; 21763481 to 21763481; 21493627
Ductal plate malformation v1.9 SEC63 Ivone Leong Added phenotypes Polycystic Liver Disease 2 with or without kidney cysts (617004) for gene: SEC63
Ductal plate malformation v1.9 PRKCSH Ivone Leong Added phenotypes Polycystic Liver Disease 1 with or without kidney cysts (174050) for gene: PRKCSH
Publications for gene PRKCSH were changed from 12529853; 12577059; 11047756; 29038287 to 11047756; 29038287; 12529853; 12577059
Ductal plate malformation v1.9 PKHD1 Ivone Leong Added phenotypes Polycystic kidney disease 4 with or without hepatic disease (263200) for gene: PKHD1
Publications for gene PKHD1 were changed from 28862642; 11337358; 11135065; 11919560; 30211211 to 11135065; 30211211; 11919560; 28862642; 11337358
Ductal plate malformation v1.9 PKD2 Ivone Leong Added phenotypes Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) for gene: PKD2
Ductal plate malformation v1.9 PKD1 Ivone Leong Added phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) for gene: PKD1
Publications for gene PKD1 were changed from 3178424; 9211343; 8554072 to 8554072; 3178424; 9211343
Ductal plate malformation v1.9 LRP5 Ivone Leong Added phenotypes Polycystic liver disease 4 with or without kidney cysts (617875) for gene: LRP5
Ductal plate malformation v1.9 GANAB Ivone Leong Added phenotypes Polycystic kidney disease 3 (600666) for gene: GANAB
Publications for gene GANAB were changed from 28862642; 27259053; 29243290 to 29243290; 27259053; 28862642
Ductal plate malformation v1.9 ALG8 Ivone Leong Added phenotypes Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) for gene: ALG8
Publications for gene ALG8 were changed from 15235028; 28375157 to 28375157; 15235028
Ductal plate malformation v1.8 DNAJB11 Ivone Leong Phenotypes for gene: DNAJB11 were changed from to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Ductal plate malformation v1.7 Ivone Leong Panel name changed from Polycystic liver disease to Ductal plate malformation
List of related panels changed from Ductal plate malformation (DPM) to Ductal plate malformation (DPM); Polycystic liver disease
Panel types changed to Rare Disease 100K
Ductal plate malformation v1.6 DNAJB11 Ivone Leong Classified gene: DNAJB11 as Green List (high evidence)
Ductal plate malformation v1.6 DNAJB11 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. PMID: 29706351 showed 7 unrelated families with polycystic kidney disease with variants in DNAJB11 and 5 of these families have a polycystic liver phenotype.
Ductal plate malformation v1.6 DNAJB11 Ivone Leong Gene: dnajb11 has been classified as Green List (High Evidence).
Ductal plate malformation v1.5 DNAJB11 Ivone Leong Mode of inheritance for gene: DNAJB11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v1.4 DNAJB11 Ivone Leong Publications for gene: DNAJB11 were set to
Ductal plate malformation v1.3 PKD2 Ivone Leong edited their review of gene: PKD2: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.3 PKD1 Ivone Leong commented on gene: PKD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 DNAJB11 Ivone Leong reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v1.3 SEC61B Ivone Leong edited their review of gene: SEC61B: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC61B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.3 ALG8 Ivone Leong commented on gene: ALG8: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALG8; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 PKHD1 Ivone Leong commented on gene: PKHD1: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PKHD1; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 GANAB Ivone Leong commented on gene: GANAB: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: GANAB; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 LRP5 Ivone Leong commented on gene: LRP5: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: LRP5; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Ductal plate malformation v1.3 SEC63 Ivone Leong edited their review of gene: SEC63: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SEC63; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.3 PRKCSH Ivone Leong edited their review of gene: PRKCSH: Added comment: Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PRKCSH; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Ductal plate malformation v1.2 PKD2 Ivone Leong Source NHS GMS was added to PKD2.
Ductal plate malformation v1.2 PKD1 Ivone Leong Source NHS GMS was added to PKD1.
Ductal plate malformation v1.2 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Polycystic liver disease. Sources: NHS GMS
Mode of inheritance for gene: DNAJB11 was set to
Ductal plate malformation v1.2 SEC61B Ivone Leong Source NHS GMS was added to SEC61B.
Ductal plate malformation v1.2 ALG8 Ivone Leong Source NHS GMS was added to ALG8.
Ductal plate malformation v1.2 PKHD1 Ivone Leong Source NHS GMS was added to PKHD1.
Ductal plate malformation v1.2 GANAB Ivone Leong Source NHS GMS was added to GANAB.
Ductal plate malformation v1.2 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Ductal plate malformation v1.2 SEC63 Ivone Leong Source NHS GMS was added to SEC63.
Ductal plate malformation v1.2 PRKCSH Ivone Leong Source NHS GMS was added to PRKCSH.
Ductal plate malformation v1.0 Ellen McDonagh promoted panel to version 1.0
Ductal plate malformation v0.73 PKD2 Ivone Leong commented on gene: PKD2: There are >3 unrelated families with variants in this gene and it is a green gene on the Rare multisystem ciliopathy disorders (Version 1.78).
Ductal plate malformation v0.73 PKD1 Ivone Leong commented on gene: PKD1: There are >3 unrelated families with variants in this gene and it is a green gene on the Rare multisystem ciliopathy disorders (Version 1.78).
Ductal plate malformation v0.73 B9D1 Ivone Leong Tag watchlist tag was added to gene: B9D1.
Ductal plate malformation v0.73 KCNN3 Ivone Leong Tag watchlist tag was added to gene: KCNN3.
Ductal plate malformation v0.73 OFD1 Ivone Leong commented on gene: OFD1
Ductal plate malformation v0.73 NPHP3 Ivone Leong commented on gene: NPHP3
Ductal plate malformation v0.73 ALG8 Ivone Leong Added comment: Comment on mode of inheritance: Changed to monoallelic as variants in ALG8 that cause polycystic liver disease have an autosomal dominant mode of inheritance. Variants in ALG8 has a recessive mode of inheritance when involved with Congenital disorder of glycosylation.
Ductal plate malformation v0.73 ALG8 Ivone Leong Mode of inheritance for gene: ALG8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v0.72 KCNN3 Ivone Leong Marked gene: KCNN3 as ready
Ductal plate malformation v0.72 KCNN3 Ivone Leong Gene: kcnn3 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.72 KCNN3 Ivone Leong Classified gene: KCNN3 as Red List (low evidence)
Ductal plate malformation v0.72 KCNN3 Ivone Leong Added comment: Comment on list classification: Demoted from green to red. KCNN3 does not have an OMIM ID and has no associated phenotypes on Gene2Phenotype. There is only one paper (PMID: 26658685) describing one family with four affected individuals presenting with idiopathic non-cirrhotic portal hypertension who have a missense variant in KCNN3. There are no other reports or reported variants in this gene.
Ductal plate malformation v0.72 KCNN3 Ivone Leong Gene: kcnn3 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.71 KCNN3 Ivone Leong All sources for gene: KCNN3 were removed
Ductal plate malformation v0.70 KCNN3 Ivone Leong Added comment: Comment on mode of inheritance: The publication (PMID: 26658685) describes it as an autosomal dominant variant.
Ductal plate malformation v0.70 KCNN3 Ivone Leong Mode of inheritance for gene: KCNN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v0.69 KCNN3 Ivone Leong Phenotypes for gene: KCNN3 were changed from portal hypertension; varices; splenomegaly to No OMIM number; portal hypertension; varices; splenomegaly
Ductal plate malformation v0.68 KCNN3 Ivone Leong Publications for gene: KCNN3 were set to 26658685
Ductal plate malformation v0.67 KCNN3 Ivone Leong Publications for gene: KCNN3 were set to PMID: 26658685
Ductal plate malformation v0.66 PEX1 Ivone Leong Marked gene: PEX1 as ready
Ductal plate malformation v0.66 PEX1 Ivone Leong Gene: pex1 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.66 PEX1 Ivone Leong Classified gene: PEX1 as Red List (low evidence)
Ductal plate malformation v0.66 PEX1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator).
Ductal plate malformation v0.66 PEX1 Ivone Leong Gene: pex1 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.65 NOTCH2 Ivone Leong Marked gene: NOTCH2 as ready
Ductal plate malformation v0.65 NOTCH2 Ivone Leong Gene: notch2 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.65 NOTCH2 Ivone Leong Classified gene: NOTCH2 as Red List (low evidence)
Ductal plate malformation v0.65 NOTCH2 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator).
Ductal plate malformation v0.65 NOTCH2 Ivone Leong Gene: notch2 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.64 JAG1 Ivone Leong Marked gene: JAG1 as ready
Ductal plate malformation v0.64 JAG1 Ivone Leong Gene: jag1 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.64 JAG1 Ivone Leong Classified gene: JAG1 as Red List (low evidence)
Ductal plate malformation v0.64 JAG1 Ivone Leong Added comment: Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator).
Ductal plate malformation v0.64 JAG1 Ivone Leong Gene: jag1 has been classified as Red List (Low Evidence).
Ductal plate malformation v0.63 NOTCH2 Anna de Burca reviewed gene: NOTCH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ductal plate malformation v0.63 JAG1 Anna de Burca reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ductal plate malformation v0.63 PEX1 Anna de Burca reviewed gene: PEX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.63 TERT Ivone Leong Marked gene: TERT as ready
Ductal plate malformation v0.63 TERT Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to suggest TERT causes ductal plate malformation.
Ductal plate malformation v0.63 TERT Ivone Leong Gene: tert has been classified as Amber List (Moderate Evidence).
Ductal plate malformation v0.63 TERT Ivone Leong Publications for gene: TERT were set to
Ductal plate malformation v0.62 TERC Ivone Leong Marked gene: TERC as ready
Ductal plate malformation v0.62 TERC Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to support promoting TERC to a green gene on this panel.
Ductal plate malformation v0.62 TERC Ivone Leong Gene: terc has been classified as Amber List (Moderate Evidence).
Ductal plate malformation v0.62 TERC Ivone Leong Publications for gene: TERC were set to
Ductal plate malformation v0.61 STN1 Ivone Leong Marked gene: STN1 as ready
Ductal plate malformation v0.61 STN1 Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to support the promotion of STN1 to a green gene on this panel.
Ductal plate malformation v0.61 STN1 Ivone Leong Gene: stn1 has been classified as Amber List (Moderate Evidence).
Ductal plate malformation v0.61 STN1 Ivone Leong Publications for gene: STN1 were set to
Ductal plate malformation v0.60 PEX1 Ivone Leong Publications for gene: PEX1 were set to
Ductal plate malformation v0.59 RTEL1 Ivone Leong Marked gene: RTEL1 as ready
Ductal plate malformation v0.59 RTEL1 Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to promote RTEL1 to a green gene for the ductal plate malformation panel. Therefore, keeping it as amber.
Ductal plate malformation v0.59 RTEL1 Ivone Leong Gene: rtel1 has been classified as Amber List (Moderate Evidence).
Ductal plate malformation v0.59 RTEL1 Ivone Leong Publications for gene: RTEL1 were set to
Ductal plate malformation v0.58 SEC61B Ivone Leong Marked gene: SEC61B as ready
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 v0.58 SEC61B Ivone Leong Gene: sec61b has been classified as Amber List (Moderate Evidence).
Ductal plate malformation v0.58 SEC61B Ivone Leong Mode of inheritance for gene: SEC61B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v0.57 SEC61B Ivone Leong Publications for gene: SEC61B were set to
Ductal plate malformation v0.56 RPGRIP1L Ivone Leong Marked gene: RPGRIP1L as ready
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 v0.56 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence).
Ductal plate malformation v0.56 CC2D2A Ivone Leong Marked gene: CC2D2A as ready
Ductal plate malformation v0.56 CC2D2A Ivone Leong Added comment: Comment when marking as ready: CC2D2A causes congenital hepatic fibrosis, which is a phenotype of Ductal plate malformation
Ductal plate malformation v0.56 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Ductal plate malformation v0.56 CC2D2A Ivone Leong Deleted their comment
Ductal plate malformation v0.56 CC2D2A Ivone Leong Added comment: Comment on publications: There are 3 unrelated cases of patients with Meckel syndrome who have variants in the CC2D2A gene.
Ductal plate malformation v0.56 CC2D2A Ivone Leong Publications for gene: CC2D2A were set to 18513680; 19574260; 22246503
Ductal plate malformation v0.55 TMEM67 Ivone Leong Marked gene: TMEM67 as ready
Ductal plate malformation v0.55 TMEM67 Ivone Leong Added comment: Comment when marking as ready: TMEM67 is a disease causing gene of Meckel syndrome and causes congenital hepatic malformations and fibrosis, which is a phenotype of ductal plate malformation.
Ductal plate malformation v0.55 TMEM67 Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence).
Ductal plate malformation v0.55 TMEM67 Ivone Leong Deleted their comment
Ductal plate malformation v0.55 TMEM67 Ivone Leong Added comment: Comment on publications: There are >3 reported cases of variants in TMEM67 causing congenital hepatic malformations.
Ductal plate malformation v0.55 TMEM67 Ivone Leong Publications for gene: TMEM67 were set to 19058225
Ductal plate malformation v0.54 SEC63 Ivone Leong Marked gene: SEC63 as ready
Ductal plate malformation v0.54 SEC63 Ivone Leong Gene: sec63 has been classified as Green List (High Evidence).
Ductal plate malformation v0.54 PRKCSH Ivone Leong Marked gene: PRKCSH as ready
Ductal plate malformation v0.54 PRKCSH Ivone Leong Added comment: Comment when marking as ready: PRKCSH is confirmed as the causative gene for polycystic liver disease 1 on OMIM and listed as a causative gene in GeneReviews.
Ductal plate malformation v0.54 PRKCSH Ivone Leong Gene: prkcsh has been classified as Green List (High Evidence).
Ductal plate malformation v0.54 PRKCSH Ivone Leong Deleted their comment
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 v0.54 PRKCSH Ivone Leong Publications for gene: PRKCSH were set to 12529853
Ductal plate malformation v0.53 B9D1 Ivone Leong Marked gene: B9D1 as ready
Ductal plate malformation v0.53 B9D1 Ivone Leong Added comment: Comment when marking as ready: There is not enough evidence to promote B9D1 to a green gene on this panel.
Ductal plate malformation v0.53 B9D1 Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Ductal plate malformation v0.53 B9D1 Ivone Leong Classified gene: B9D1 as Amber List (moderate evidence)
Ductal plate malformation v0.53 B9D1 Ivone Leong Added comment: Comment on list classification: Demoted from green to amber after taking into consideration the red review by Bill Griffiths (Cambridge University Hospitals) and other sources of evidence. There is not enough evidence from patient data and B9D1 is a red gene on the Rare cilipathy panel.
Ductal plate malformation v0.53 B9D1 Ivone Leong Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Ductal plate malformation v0.52 B9D1 Ivone Leong Publications for gene: B9D1 were set to
Ductal plate malformation v0.51 DGUOK Ivone Leong Marked gene: DGUOK as ready
Ductal plate malformation v0.51 DGUOK Ivone Leong Added comment: Comment when marking as ready: DGUOK is a disease causing gene of DPM
Ductal plate malformation v0.51 DGUOK Ivone Leong Gene: dguok has been classified as Green List (High Evidence).
Ductal plate malformation v0.51 DGUOK Ivone Leong Added comment: Comment on publications: Added another publication (PMID:26874653) provided by Bill Griffiths (Cambridge University Hospitals). The paper reported on 2 families with 3 individuals who have the same variant in the DGUOK gene. The affected patients had protal hypertension without advanced fibrosis/cirrhosis.
Ductal plate malformation v0.51 DGUOK Ivone Leong Publications for gene: DGUOK were set to 30234759; 17073823
Ductal plate malformation v0.50 CC2D2A Ivone Leong Marked gene: CC2D2A as ready
Ductal plate malformation v0.50 CC2D2A Ivone Leong Added comment: Comment when marking as ready: CC2D2A is a disease causing gene of DPM
Ductal plate malformation v0.50 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Ductal plate malformation v0.50 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360) to Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360); congenital hepatic fibrosis
Ductal plate malformation v0.49 TMEM67 Ivone Leong Marked gene: TMEM67 as ready
Ductal plate malformation v0.49 TMEM67 Ivone Leong Added comment: Comment when marking as ready: TMEM67 is a disease causing gene of DPM
Ductal plate malformation v0.49 TMEM67 Ivone Leong Gene: tmem67 has been classified as Green List (High Evidence).
Ductal plate malformation v0.49 TMEM67 Ivone Leong Phenotypes for gene: TMEM67 were changed from Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360) to Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360); congenital hepatic fibrosis
Ductal plate malformation v0.48 TMEM67 Ivone Leong Publications for gene: TMEM67 were set to
Ductal plate malformation v0.47 SEC63 Ivone Leong Marked gene: SEC63 as ready
Ductal plate malformation v0.47 SEC63 Ivone Leong Added comment: Comment when marking as ready: SEC63 is a disease causing gene of DPM
Ductal plate malformation v0.47 SEC63 Ivone Leong Gene: sec63 has been classified as Green List (High Evidence).
Ductal plate malformation v0.47 SEC63 Ivone Leong Publications for gene: SEC63 were set to
Ductal plate malformation v0.46 SEC63 Ivone Leong Mode of inheritance for gene: SEC63 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v0.45 PRKCSH Ivone Leong Marked gene: PRKCSH as ready
Ductal plate malformation v0.45 PRKCSH Ivone Leong Added comment: Comment when marking as ready: PRKCSH is confirmed as the causative gene for polycystic liver disease 1 on OMIM and listed as a causative gene in GeneReviews.
Ductal plate malformation v0.45 PRKCSH Ivone Leong Gene: prkcsh has been classified as Green List (High Evidence).
Ductal plate malformation v0.45 PRKCSH Ivone Leong Publications for gene: PRKCSH were set to
Ductal plate malformation v0.44 PRKCSH Ivone Leong Mode of inheritance for gene: PRKCSH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v0.43 PKHD1 Ivone Leong Marked gene: PKHD1 as ready
Ductal plate malformation v0.43 PKHD1 Ivone Leong Added comment: Comment when marking as ready: PKHD1 is a disease causing gene of DPM
Ductal plate malformation v0.43 PKHD1 Ivone Leong Gene: pkhd1 has been classified as Green List (High Evidence).
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 v0.43 PKHD1 Ivone Leong Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ductal plate malformation v0.42 PKHD1 Ivone Leong Publications for gene: PKHD1 were set to
Ductal plate malformation v0.41 PKD2 Ivone Leong Marked gene: PKD2 as ready
Ductal plate malformation v0.41 PKD2 Ivone Leong Added comment: Comment when marking as ready: PKD2 is on the Eligibility statement
Ductal plate malformation v0.41 PKD2 Ivone Leong Gene: pkd2 has been classified as Green List (High Evidence).
Ductal plate malformation v0.41 PKD2 Ivone Leong Publications for gene: PKD2 were set to
Ductal plate malformation v0.40 PKD1 Ivone Leong Marked gene: PKD1 as ready
Ductal plate malformation v0.40 PKD1 Ivone Leong Added comment: Comment when marking as ready: PKD1 is on the Eligibility statement
Ductal plate malformation v0.40 PKD1 Ivone Leong Gene: pkd1 has been classified as Green List (High Evidence).
Ductal plate malformation v0.40 PKD1 Ivone Leong Publications for gene: PKD1 were set to
Ductal plate malformation v0.39 LRP5 Ivone Leong Marked gene: LRP5 as ready
Ductal plate malformation v0.39 LRP5 Ivone Leong Added comment: Comment when marking as ready: LRP5 is a disease causing gene of DPM
Ductal plate malformation v0.39 LRP5 Ivone Leong Gene: lrp5 has been classified as Green List (High Evidence).
Ductal plate malformation v0.39 LRP5 Ivone Leong Publications for gene: LRP5 were set to
Ductal plate malformation v0.38 GANAB Ivone Leong Marked gene: GANAB as ready
Ductal plate malformation v0.38 GANAB Ivone Leong Added comment: Comment when marking as ready: GANAB is a disease causing gene of DPM
Ductal plate malformation v0.38 GANAB Ivone Leong Gene: ganab has been classified as Green List (High Evidence).
Ductal plate malformation v0.38 ALG8 Ivone Leong Marked gene: ALG8 as ready
Ductal plate malformation v0.38 ALG8 Ivone Leong Added comment: Comment when marking as ready: ALG is a disease causing gene of DPM.
Ductal plate malformation v0.38 ALG8 Ivone Leong Gene: alg8 has been classified as Green List (High Evidence).
Ductal plate malformation v0.38 GANAB Ivone Leong Publications for gene: GANAB were set to
Ductal plate malformation v0.37 GANAB Ivone Leong Mode of inheritance for gene: GANAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ductal plate malformation v0.36 ALG8 Ivone Leong Publications for gene: ALG8 were set to
Ductal plate malformation v0.35 PKD1 Bill Griffiths edited their review of gene: PKD1: Changed publications: PMID: 3178424 PMID: 9211343; Changed phenotypes: Polycystic liver, polycystic kidney, Caroli's disease
Ductal plate malformation v0.35 OFD1 Bill Griffiths reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20818665; Phenotypes: biliary dysplasia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Ductal plate malformation v0.35 B9D1 Bill Griffiths reviewed gene: B9D1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21763481; Phenotypes: Ductal plate malformation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.35 RPGRIP1L Bill Griffiths reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19574260; Phenotypes: Congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.35 NPHP3 Bill Griffiths edited their review of gene: NPHP3: Changed publications: PMID: 12872122, PMID: 20007846, PMID 21845392; Changed phenotypes: Congenital hepatic fibrosis, Caroli's disease
Ductal plate malformation v0.35 PKHD1 Bill Griffiths edited their review of gene: PKHD1: Changed publications: PMID: 11919560 PMID: 30211211; Changed phenotypes: Polycystic kidney, liver cysts, congenital hepatic fibrosis, Caroli's disease, biliary dysplasia
Ductal plate malformation v0.35 NPHP3 Bill Griffiths reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12872122, PMID: 20007846; Phenotypes: Congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.35 CC2D2A Bill Griffiths reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19574260; Phenotypes: Congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.35 DGUOK Bill Griffiths edited their review of gene: DGUOK: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.35 KCNN3 Bill Griffiths edited their review of gene: KCNN3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.35 TMEM67 Bill Griffiths reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19058225; Phenotypes: congenital hepatic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.35 KCNN3 Bill Griffiths gene: KCNN3 was added
gene: KCNN3 was added to Polycystic liver disease. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to PMID: 26658685
Phenotypes for gene: KCNN3 were set to portal hypertension; varices; splenomegaly
Penetrance for gene: KCNN3 were set to unknown
Review for gene: KCNN3 was set to GREEN
Added comment: Sources: Literature
Ductal plate malformation v0.35 DGUOK Bill Griffiths reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26874653; Phenotypes: portal hypertension, varices, splenomegaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ductal plate malformation v0.35 SEC63 Bill Griffiths reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15133510; Phenotypes: Polycystic liver; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ductal plate malformation v0.35 PRKCSH Bill Griffiths reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 12529853; Phenotypes: Polycystic liver, kidney cysts, pancreatic cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ductal plate malformation v0.35 PKHD1 Bill Griffiths reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11919560; Phenotypes: Polycystic kidney, liver cysts, congenital hepatic fibrosis, Caroli's disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ductal plate malformation v0.35 PKD2 Bill Griffiths reviewed gene: PKD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29321346; Phenotypes: Polycystic kidney disease, liver cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ductal plate malformation v0.35 PKD1 Bill Griffiths reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 3178424; Phenotypes: Polycystic liver, polycystic kidney; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 GANAB Bill Griffiths reviewed gene: GANAB: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29243290, PMID: 27259053; Phenotypes: Polycystic liver, polycystic kidney; 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 v0.35 Ellen McDonagh Panel name changed from Ductal plate malformation (DPM) to Polycystic liver disease
List of related panels changed from to Ductal plate malformation (DPM)
Panel types changed to Rare Disease 100K; GMS Rare Disease
Ductal plate malformation v0.34 DGUOK Ivone Leong Publications for gene: DGUOK were set to
Ductal plate malformation v0.33 DGUOK Ivone Leong Classified gene: DGUOK as Green List (high evidence)
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.
Ductal plate malformation v0.33 DGUOK Ivone Leong Gene: dguok has been classified as Green List (High Evidence).
Ductal plate malformation v0.32 RPGRIP1L Ivone Leong Publications for gene: RPGRIP1L were set to
Ductal plate malformation v0.31 RPGRIP1L Ivone Leong Classified gene: RPGRIP1L as Green List (high evidence)
Ductal plate malformation v0.31 RPGRIP1L Ivone Leong Added comment: Comment on list classification: RPGRIP1L is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/). It has been promoted from grey to green as it causes both Meckel syndrome (611561) and COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.
Ductal plate malformation v0.31 RPGRIP1L Ivone Leong Gene: rpgrip1l has been classified as Green List (High Evidence).
Ductal plate malformation v0.30 CC2D2A Ivone Leong Publications for gene: CC2D2A were set to
Ductal plate malformation v0.29 CC2D2A Ivone Leong Classified gene: CC2D2A as Green List (high evidence)
Ductal plate malformation v0.29 CC2D2A Ivone Leong Added comment: Comment on list classification: CC2D2A is a green gene on the Rare multisystem ciliopathy disorder panel (https://panelapp.genomicsengland.co.uk/panels/150/). It has been promoted from grey to green as it causes COACH syndrome (216360), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.
Ductal plate malformation v0.29 CC2D2A Ivone Leong Gene: cc2d2a has been classified as Green List (High Evidence).
Ductal plate malformation v0.28 TMEM67 Ivone Leong commented on gene: TMEM67: TMEM67 also causes COACH syndrome (609884), which is considered by some to be a subtype of Joubert syndrome with congenital hepatic fibrosis.
Ductal plate malformation v0.28 Ivone Leong Panel status changed from internal to public
Ductal plate malformation v0.27 PKD1 Ivone Leong Source Expert Review Green was added to PKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ductal plate malformation v0.27 STN1 Ivone Leong Source Expert Review Amber was added to STN1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 PEX14 Ivone Leong Source Expert Review Red was added to PEX14.
Ductal plate malformation v0.27 PEX1 Ivone Leong Source Expert Review Amber was added to PEX1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 NOTCH2 Ivone Leong Source Expert Review Amber was added to NOTCH2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 JAG1 Ivone Leong Source Expert Review Amber was added to JAG1.
Ductal plate malformation v0.27 HOGA1 Ivone Leong Source Expert Review Red was added to HOGA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 GRHPR Ivone Leong Source Expert Review Red was added to GRHPR.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 EYA1 Ivone Leong Source Expert Review Red was added to EYA1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CPT2 Ivone Leong Source Expert Review Red was added to CPT2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CLDN19 Ivone Leong Source Expert Review Red was added to CLDN19.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CLDN16 Ivone Leong Source Expert Review Red was added to CLDN16.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 BSND Ivone Leong Source Expert Review Red was added to BSND.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 BICC1 Ivone Leong Source Expert Review Red was added to BICC1.
Ductal plate malformation v0.27 TERC Ivone Leong Source Expert Review Amber was added to TERC.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 RTEL1 Ivone Leong Source Expert Review Amber was added to RTEL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 WRAP53 Ivone Leong Source Expert Review Red was added to WRAP53.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 TERT Ivone Leong Source Expert Review Amber was added to TERT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 NOP10 Ivone Leong Source Expert Review Red was added to NOP10.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 TINF2 Ivone Leong Source Expert Review Red was added to TINF2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DKC1 Ivone Leong Source Expert Review Red was added to DKC1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DGUOK Ivone Leong Source Expert Review Amber was added to DGUOK.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 TMEM67 Ivone Leong Source Expert Review Green was added to TMEM67.
Ductal plate malformation v0.27 SEC61B Ivone Leong Source Expert Review Amber was added to SEC61B.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ductal plate malformation v0.27 RSPH9 Ivone Leong Source Expert Review Red was added to RSPH9.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 RSPH4A Ivone Leong Source Expert Review Red was added to RSPH4A.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
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)
Ductal plate malformation v0.27 PKHD1 Ivone Leong Source Expert Review Green was added to PKHD1.
Ductal plate malformation v0.27 NME8 Ivone Leong Source Expert Review Red was added to NME8.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 LRP5 Ivone Leong Source Expert Review Green was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ductal plate malformation v0.27 GANAB Ivone Leong Source Expert Review Green was added to GANAB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Ductal plate malformation v0.27 DNAL1 Ivone Leong Source Expert Review Red was added to DNAL1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAI2 Ivone Leong Source Expert Review Red was added to DNAI2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAI1 Ivone Leong Source Expert Review Red was added to DNAI1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAH5 Ivone Leong Source Expert Review Red was added to DNAH5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAH11 Ivone Leong Source Expert Review Red was added to DNAH11.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAAF3 Ivone Leong Source Expert Review Red was added to DNAAF3.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAAF2 Ivone Leong Source Expert Review Red was added to DNAAF2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 DNAAF1 Ivone Leong Source Expert Review Red was added to DNAAF1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CCDC40 Ivone Leong Source Expert Review Red was added to CCDC40.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ductal plate malformation v0.27 CCDC39 Ivone Leong Source Expert Review Red was added to CCDC39.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Ductal plate malformation v0.27 B9D1 Ivone Leong Source Expert Review Green was added to B9D1.
Ductal plate malformation v0.27 ALG8 Ivone Leong Source Expert Review Green was added to ALG8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ductal plate malformation v0.27 AGT Ivone Leong Source Expert Review Red was added to AGT.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Ductal plate malformation v0.26 PKD1 Ivone Leong reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8554072; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 STN1 Ivone Leong reviewed gene: STN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27432940; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 PEX14 Ivone Leong reviewed gene: PEX14: Rating: RED; Mode of pathogenicity: ; Publications: 15146459; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 PEX1 Ivone Leong reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12032265; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 NOTCH2 Ivone Leong reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 JAG1 Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 HOGA1 Ivone Leong reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 GRHPR Ivone Leong reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 EYA1 Ivone Leong reviewed gene: EYA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CPT2 Ivone Leong reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CLDN19 Ivone Leong reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CLDN16 Ivone Leong reviewed gene: CLDN16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 BSND Ivone Leong reviewed gene: BSND: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 BICC1 Ivone Leong reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: ; Publications: 21922595; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TERC Ivone Leong reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: 22341970, 21436073, 19936245; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 RTEL1 Ivone Leong reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28495916; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 WRAP53 Ivone Leong reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TERT Ivone Leong reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: 19936245, 21483807, 21436073; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 NOP10 Ivone Leong reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TINF2 Ivone Leong reviewed gene: TINF2: Rating: RED; Mode of pathogenicity: ; Publications: 21477109; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DKC1 Ivone Leong reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DGUOK Ivone Leong reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30234759, 11687800, 12210798, 25129007 ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 TMEM67 Ivone Leong reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 SEC61B Ivone Leong reviewed gene: SEC61B: Rating: AMBER; Mode of pathogenicity: ; Publications: 28862642; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 RSPH9 Ivone Leong reviewed gene: RSPH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 RSPH4A Ivone Leong reviewed gene: RSPH4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 REN Ivone Leong reviewed gene: REN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 PKHD1 Ivone Leong reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28862642, 11337358, 11135065; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 NME8 Ivone Leong reviewed gene: NME8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 LRP5 Ivone Leong reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25920554; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 GANAB Ivone Leong reviewed gene: GANAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28862642, 27259053, 29243290 ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAL1 Ivone Leong reviewed gene: DNAL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAI2 Ivone Leong reviewed gene: DNAI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAI1 Ivone Leong reviewed gene: DNAI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAH5 Ivone Leong reviewed gene: DNAH5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAH11 Ivone Leong reviewed gene: DNAH11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAAF3 Ivone Leong reviewed gene: DNAAF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAAF2 Ivone Leong reviewed gene: DNAAF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 DNAAF1 Ivone Leong reviewed gene: DNAAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CCDC40 Ivone Leong reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 CCDC39 Ivone Leong reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 B9D1 Ivone Leong reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21493627, 21763481; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 ALG8 Ivone Leong reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 15235028, 28375157 ; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.26 AGT Ivone Leong reviewed gene: AGT: Rating: RED; Mode of pathogenicity: ; Publications: 16116425, 17036344; Phenotypes: ; Mode of inheritance:
Ductal plate malformation v0.25 FANCD2 Ivone Leong gene: FANCD2 was added
gene: FANCD2 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2 (227646)
Ductal plate malformation v0.25 STN1 Ivone Leong gene: STN1 was added
gene: STN1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)
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)
Ductal plate malformation v0.25 SLC41A1 Ivone Leong gene: SLC41A1 was added
gene: SLC41A1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: SLC41A1 was set to Unknown
Phenotypes for gene: SLC41A1 were set to No OMIM
Ductal plate malformation v0.25 SLC12A3 Ivone Leong gene: SLC12A3 was added
gene: SLC12A3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (263800)
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)
Ductal plate malformation v0.25 PKD1L1 Ivone Leong gene: PKD1L1 was added
gene: PKD1L1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal (617205)
Ductal plate malformation v0.25 PEX7 Ivone Leong gene: PEX7 was added
gene: PEX7 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B (614879)
Ductal plate malformation v0.25 PEX6 Ivone Leong gene: PEX6 was added
gene: PEX6 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) (614862); Peroxisome biogenesis disorder 4B (614863)
Ductal plate malformation v0.25 PEX5 Ivone Leong gene: PEX5 was added
gene: PEX5 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2B (202370); Peroxisome biogenesis disorder 2A (Zellweger) (214110)
Ductal plate malformation v0.25 PEX3 Ivone Leong gene: PEX3 was added
gene: PEX3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to ?Peroxisome biogenesis disorder 10B (617370); Peroxisome biogenesis disorder 10A (Zellweger) (614882)
Ductal plate malformation v0.25 PEX26 Ivone Leong gene: PEX26 was added
gene: PEX26 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) (614872); Peroxisome biogenesis disorder 7B (614873)
Ductal plate malformation v0.25 PEX2 Ivone Leong gene: PEX2 was added
gene: PEX2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) (614866); Peroxisome biogenesis disorder 5B (614867)
Ductal plate malformation v0.25 PEX19 Ivone Leong gene: PEX19 was added
gene: PEX19 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) (614886)
Ductal plate malformation v0.25 PEX16 Ivone Leong gene: PEX16 was added
gene: PEX16 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) (614876); Peroxisome biogenesis disorder 8B (614877)
Ductal plate malformation v0.25 PEX14 Ivone Leong gene: PEX14 was added
gene: PEX14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) (614887)
Ductal plate malformation v0.25 PEX13 Ivone Leong gene: PEX13 was added
gene: PEX13 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B (614885); Peroxisome biogenesis disorder 11A (Zellweger) (614883)
Ductal plate malformation v0.25 PEX12 Ivone Leong gene: PEX12 was added
gene: PEX12 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3B (266510); Peroxisome biogenesis disorder 3A (Zellweger) (614859)
Ductal plate malformation v0.25 PEX11B Ivone Leong gene: PEX11B was added
gene: PEX11B was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (614920)
Ductal plate malformation v0.25 PEX10 Ivone Leong gene: PEX10 was added
gene: PEX10 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (614870); Peroxisome biogenesis disorder 6B (614871)
Ductal plate malformation v0.25 PEX1 Ivone Leong gene: PEX1 was added
gene: PEX1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD) (601539); Peroxisome biogenesis disorder 1A (Zellweger) (214100)
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)
Ductal plate malformation v0.25 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2 (610205)
Ductal plate malformation v0.25 MRE11 Ivone Leong gene: MRE11 was added
gene: MRE11 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder 1 (604391)
Ductal plate malformation v0.25 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 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: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JAG1 were set to Alagille syndrome 1 (118450)
Ductal plate malformation v0.25 HOGA1 Ivone Leong gene: HOGA1 was added
gene: HOGA1 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: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III (613616)
Ductal plate malformation v0.25 GRHPR Ivone Leong gene: GRHPR was added
gene: GRHPR 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: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II (260000)
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)
Ductal plate malformation v0.25 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 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: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile (600649); CPT II deficiency, lethal neonatal (608836)
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)
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)
Ductal plate malformation v0.25 CLCNKB Ivone Leong gene: CLCNKB was added
gene: CLCNKB was added to Ductal plate malformation (DPM). Sources: Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CLCNKB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3 (607364); Bartter syndrome, type 4b, digenic (613090)
Ductal plate malformation v0.25 CCND1 Ivone Leong gene: CCND1 was added
gene: CCND1 was added to Ductal plate malformation (DPM). Sources: Expert list
Mode of inheritance for gene: CCND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND1 were set to {von Hippel-Lindau syndrome, modifier of} (193300); {Colorectal cancer, susceptibility to} (114500)
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)
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)
Ductal plate malformation v0.24 TXNDC15 Ivone Leong Source Expert Review Removed was added to TXNDC15.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM107 Ivone Leong Source Expert Review Removed was added to TMEM107.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 TCTEX1D2 Ivone Leong Source Expert Review Removed was added to TCTEX1D2.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 MAPKBP1 Ivone Leong Source Expert Review Removed was added to MAPKBP1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 KIAA0586 Ivone Leong Source Expert Review Removed was added to KIAA0586.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 IFT52 Ivone Leong Source Expert Review Removed was added to IFT52.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 DYNC2LI1 Ivone Leong Source Expert Review Removed was added to DYNC2LI1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 DDX59 Ivone Leong Source Expert Review Removed was added to DDX59.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 CSPP1 Ivone Leong Source Expert Review Removed was added to CSPP1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 ALMS1 Ivone Leong Source Expert Review Removed was added to ALMS1.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 WDR34 Ivone Leong Source Expert Review Removed was added to WDR34.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM231 Ivone Leong Source Expert Review Removed was added to TMEM231.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 INVS Ivone Leong Source Expert Review Removed was added to INVS.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 IFT172 Ivone Leong Source Expert Review Removed was added to IFT172.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 IFT140 Ivone Leong Source Expert Review Removed was added to IFT140.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 IFT122 Ivone Leong Source Expert Review Removed was added to IFT122.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 HYLS1 Ivone Leong Source Expert Review Removed was added to HYLS1.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 EVC2 Ivone Leong Source Expert Review Removed was added to EVC2.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 EVC Ivone Leong Source Expert Review Removed was added to EVC.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 CEP83 Ivone Leong Source Expert Review Removed was added to CEP83.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 CEP120 Ivone Leong Source Expert Review Removed was added to CEP120.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 C2CD3 Ivone Leong Source Expert Review Removed was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 ANKS6 Ivone Leong Source Expert Review Removed was added to ANKS6.
Rating Changed from Amber List (moderate evidence) to No List (delete)
Ductal plate malformation v0.24 TTC21B Ivone Leong Source Expert Review Removed was added to TTC21B.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM237 Ivone Leong Source Expert Review Removed was added to TMEM237.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TCTN3 Ivone Leong Source Expert Review Removed was added to TCTN3.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 OFD1 Ivone Leong Source Expert Review Removed was added to OFD1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 KIF7 Ivone Leong Source Expert Review Removed was added to KIF7.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 IQCB1 Ivone Leong Source Expert Review Removed was added to IQCB1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 INPP5E Ivone Leong Source Expert Review Removed was added to INPP5E.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 IFT80 Ivone Leong Source Expert Review Removed was added to IFT80.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CEP164 Ivone Leong Source Expert Review Removed was added to CEP164.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS5 Ivone Leong Source Expert Review Removed was added to BBS5.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 ARL13B Ivone Leong Source Expert Review Removed was added to ARL13B.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 WDR35 Ivone Leong Source Expert Review Removed was added to WDR35.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 WDPCP Ivone Leong Source Expert Review Removed was added to WDPCP.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TTC8 Ivone Leong Source Expert Review Removed was added to TTC8.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM216 Ivone Leong Source Expert Review Removed was added to TMEM216.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TMEM138 Ivone Leong Source Expert Review Removed was added to TMEM138.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TCTN2 Ivone Leong Source Expert Review Removed was added to TCTN2.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 TCTN1 Ivone Leong Source Expert Review Removed was added to TCTN1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 SDCCAG8 Ivone Leong Source Expert Review Removed was added to SDCCAG8.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 RPGRIP1L Ivone Leong Source Expert Review Removed was added to RPGRIP1L.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NPHP4 Ivone Leong Source Expert Review Removed was added to NPHP4.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NPHP3 Ivone Leong Source Expert Review Removed was added to NPHP3.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NPHP1 Ivone Leong Source Expert Review Removed was added to NPHP1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NEK8 Ivone Leong Source Expert Review Removed was added to NEK8.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 NEK1 Ivone Leong Source Expert Review Removed was added to NEK1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 MKS1 Ivone Leong Source Expert Review Removed was added to MKS1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 MKKS Ivone Leong Source Expert Review Removed was added to MKKS.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 HNF1B Ivone Leong Source Expert Review Removed was added to HNF1B.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 DYNC2H1 Ivone Leong Source Expert Review Removed was added to DYNC2H1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CEP41 Ivone Leong Source Expert Review Removed was added to CEP41.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CEP104 Ivone Leong Source Expert Review Removed was added to CEP104.
Rating Changed from Red List (low evidence) to No List (delete)
Ductal plate malformation v0.24 CEP290 Ivone Leong Source Expert Review Removed was added to CEP290.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 CC2D2A Ivone Leong Source Expert Review Removed was added to CC2D2A.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 C5orf42 Ivone Leong Source Expert Review Removed was added to C5orf42.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS9 Ivone Leong Source Expert Review Removed was added to BBS9.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS7 Ivone Leong Source Expert Review Removed was added to BBS7.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS4 Ivone Leong Source Expert Review Removed was added to BBS4.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS2 Ivone Leong Source Expert Review Removed was added to BBS2.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS12 Ivone Leong Source Expert Review Removed was added to BBS12.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS10 Ivone Leong Source Expert Review Removed was added to BBS10.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 BBS1 Ivone Leong Source Expert Review Removed was added to BBS1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 B9D2 Ivone Leong Source Expert Review Removed was added to B9D2.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 ARL6 Ivone Leong Source Expert Review Removed was added to ARL6.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.24 AHI1 Ivone Leong Source Expert Review Removed was added to AHI1.
Rating Changed from Green List (high evidence) to No List (delete)
Ductal plate malformation v0.23 Ivone Leong Panel status changed from public to internal
Ductal plate malformation v0.22 RSPH9 Ivone Leong Mode of inheritance for gene RSPH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.21 RSPH4A Ivone Leong Source Expert list was added to RSPH4A.
Mode of inheritance for gene RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.19 ALG8 Ivone Leong Mode of inheritance for gene ALG8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874) to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)
Ductal plate malformation v0.18 CCDC40 Ivone Leong Mode of inheritance for gene CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.17 CCDC39 Ivone Leong Mode of inheritance for gene CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ductal plate malformation v0.16 ARL6 Ivone Leong Marked gene: ARL6 as ready
Ductal plate malformation v0.16 ARL6 Ivone Leong Gene: arl6 has been classified as Green List (High Evidence).
Ductal plate malformation v0.16 Ivone Leong List of related panels changed from to
Ductal plate malformation v0.15 RSPH9 Ivone Leong Source Emory Genetics Laboratory was added to RSPH9.
Source UKGTN was added to RSPH9.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.14 RSPH9 Ivone Leong All sources for gene: RSPH9 were removed
Ductal plate malformation v0.13 RSPH4A Ivone Leong Source Emory Genetics Laboratory was added to RSPH4A.
Source UKGTN was added to RSPH4A.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.12 RSPH4A Ivone Leong All sources for gene: RSPH4A were removed
Ductal plate malformation v0.11 IFT140 Ivone Leong Source Illumina TruGenome Clinical Sequencing Services was added to IFT140.
Source UKGTN was added to IFT140.
Source Expert list was added to IFT140.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.10 NME8 Ivone Leong Source Emory Genetics Laboratory was added to NME8.
Source UKGTN was added to NME8.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.9 NME8 Ivone Leong All sources for gene: NME8 were removed
Ductal plate malformation v0.8 IFT140 Ivone Leong All sources for gene: IFT140 were removed
Ductal plate malformation v0.7 CEP83 Ivone Leong Source Radboud University Medical Center, Nijmegen was added to CEP83.
Source UKGTN was added to CEP83.
Rating Changed from No List (delete) to Amber List (moderate evidence)
Ductal plate malformation v0.6 CEP83 Ivone Leong All sources for gene: CEP83 were removed
Ductal plate malformation v0.5 IFT80 Ivone Leong Source Radboud University Medical Center, Nijmegen was added to IFT80.
Source Emory Genetics Laboratory was added to IFT80.
Source UKGTN was added to IFT80.
Source Expert list was added to IFT80.
Rating Changed from No List (delete) to Green List (high evidence)
Ductal plate malformation v0.4 IFT80 Ivone Leong All sources for gene: IFT80 were removed
Ductal plate malformation v0.3 C5orf42 Ivone Leong commented on gene: C5orf42
Ductal plate malformation v0.3 C5orf42 Ivone Leong Tag new-gene-name tag was added to C5orf42.
Ductal plate malformation v0.2 TXNDC15 Ivone Leong gene: TXNDC15 was added
gene: TXNDC15 was added to Ductal plate malformation (DPM). Sources: Expert list,Literature
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNDC15 were set to Meckel syndrome
Ductal plate malformation v0.2 TERC Ivone Leong gene: TERC was added
gene: TERC was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)
Ductal plate malformation v0.2 RTEL1 Ivone Leong gene: RTEL1 was added
gene: RTEL1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 (615190); Dyskeratosiscongenita, autosomal dominant 4 (615190)
Ductal plate malformation v0.2 NLRP1 Ivone Leong gene: NLRP1 was added
gene: NLRP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis (617388)
Ductal plate malformation v0.2 NXPH2 Ivone Leong gene: NXPH2 was added
gene: NXPH2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NXPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXPH2 were set to Nephronophthisis 2, infantile (602088)
Ductal plate malformation v0.2 ACD Ivone Leong gene: ACD was added
gene: ACD was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACD were set to ?Dyskeratosis congenita, autosomal dominant 6 (616553); ?Dyskeratosis congenita, autosomal recessive 7 (616553)
Ductal plate malformation v0.2 LRRC6 Ivone Leong gene: LRRC6 was added
gene: LRRC6 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19 (614935)
Ductal plate malformation v0.2 HYDIN Ivone Leong gene: HYDIN was added
gene: HYDIN was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5 (608647)
Ductal plate malformation v0.2 DNAAF5 Ivone Leong gene: DNAAF5 was added
gene: DNAAF5 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18 (614874)
Ductal plate malformation v0.2 CCDC114 Ivone Leong gene: CCDC114 was added
gene: CCDC114 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20 (615067)
Ductal plate malformation v0.2 CCDC103 Ivone Leong gene: CCDC103 was added
gene: CCDC103 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17 (614679)
Ductal plate malformation v0.2 WRAP53 Ivone Leong gene: WRAP53 was added
gene: WRAP53 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3 (613988)
Ductal plate malformation v0.2 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4} (613989); {Dyskeratosis congenita, autosomal dominant 2} (613989)
Ductal plate malformation v0.2 NOP10 Ivone Leong gene: NOP10 was added
gene: NOP10 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to Dyskeratosis congenita, autosomal recessive 1 (224230)
Ductal plate malformation v0.2 NHP2 Ivone Leong gene: NHP2 was added
gene: NHP2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2 (613987)
Ductal plate malformation v0.2 CTC1 Ivone Leong gene: CTC1 was added
gene: CTC1 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts (612199)
Ductal plate malformation v0.2 TINF2 Ivone Leong gene: TINF2 was added
gene: TINF2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (613990)
Ductal plate malformation v0.2 DKC1 Ivone Leong gene: DKC1 was added
gene: DKC1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked (305000)
Ductal plate malformation v0.2 DGUOK Ivone Leong gene: DGUOK was added
gene: DGUOK was added to Ductal plate malformation (DPM). Sources: Expert list,Literature
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Portal hypertension, noncirrhotic (617068)
Ductal plate malformation v0.2 WDR35 Ivone Leong gene: WDR35 was added
gene: WDR35 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: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Cranioectodermal dysplasia 2 (613610); Short-rib thoracic dysplasia 7 with or without polydactyly (614091)
Ductal plate malformation v0.2 WDR34 Ivone Leong gene: WDR34 was added
gene: WDR34 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly (615633)
Ductal plate malformation v0.2 WDPCP Ivone Leong gene: WDPCP was added
gene: WDPCP 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: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to ?Bardet-Biedl syndrome 15 (615992)
Ductal plate malformation v0.2 TTC8 Ivone Leong gene: TTC8 was added
gene: TTC8 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: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8 (615985)
Ductal plate malformation v0.2 TTC21B Ivone Leong gene: TTC21B was added
gene: TTC21B was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TTC21B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Nephronophthisis 12 (613820)
Ductal plate malformation v0.2 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 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: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); COACH syndrome (216360)
Ductal plate malformation v0.2 TMEM237 Ivone Leong gene: TMEM237 was added
gene: TMEM237 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14 (614424)
Ductal plate malformation v0.2 TMEM231 Ivone Leong gene: TMEM231 was added
gene: TMEM231 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20 (614970); Meckel syndrome 11 (615397)
Ductal plate malformation v0.2 TMEM216 Ivone Leong gene: TMEM216 was added
gene: TMEM216 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: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2 (608091); Meckel syndrome 2 (603194)
Ductal plate malformation v0.2 TMEM138 Ivone Leong gene: TMEM138 was added
gene: TMEM138 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: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16 (614465)
Ductal plate malformation v0.2 TMEM107 Ivone Leong gene: TMEM107 was added
gene: TMEM107 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29 (617562); Meckel syndrome 13 (617562)
Ductal plate malformation v0.2 TCTN3 Ivone Leong gene: TCTN3 was added
gene: TCTN3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18 (614815); Orofaciodigital syndrome IV (258860)
Ductal plate malformation v0.2 TCTN2 Ivone Leong gene: TCTN2 was added
gene: TCTN2 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: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24 (616654); ?Meckel syndrome 8 (613885)
Ductal plate malformation v0.2 TCTN1 Ivone Leong gene: TCTN1 was added
gene: TCTN1 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: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to Joubert syndrome 13 (614173)
Ductal plate malformation v0.2 TCTEX1D2 Ivone Leong gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly (617405)
Ductal plate malformation v0.2 SEC63 Ivone Leong gene: SEC63 was added
gene: SEC63 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: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC63 were set to Polycystic Liver Disease 2 with or without kidney cysts (617004)
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)
Ductal plate malformation v0.2 SDCCAG8 Ivone Leong gene: SDCCAG8 was added
gene: SDCCAG8 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: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16 (615993)
Ductal plate malformation v0.2 RSPH9 Ivone Leong gene: RSPH9 was added
gene: RSPH9 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory
Mode of inheritance for gene: RSPH9 was set to Unknown
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12 (612650)
Ductal plate malformation v0.2 RSPH4A Ivone Leong gene: RSPH4A was added
gene: RSPH4A was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory
Mode of inheritance for gene: RSPH4A was set to Unknown
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11 (612649)
Ductal plate malformation v0.2 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L 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: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7 (611560); Meckel syndrome 5 (611561); COACH syndrome (216360)
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)
Ductal plate malformation v0.2 PRKCSH Ivone Leong gene: PRKCSH was added
gene: PRKCSH 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: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKCSH were set to Polycystic Liver Disease 1 with or without kidney cysts (174050)
Ductal plate malformation v0.2 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200)
Ductal plate malformation v0.2 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Ductal plate malformation v0.2 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Eligibility statement prior genetic testing,Expert list,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Ductal plate malformation v0.2 OFD1 Ivone Leong gene: OFD1 was added
gene: OFD1 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OFD1 were set to Orofaciodigital syndrome I (311200); Joubert syndrome 10 (300804)
Ductal plate malformation v0.2 NPHP4 Ivone Leong gene: NPHP4 was added
gene: NPHP4 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: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephronophthisis 4 (606966)
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)
Ductal plate malformation v0.2 NPHP1 Ivone Leong gene: NPHP1 was added
gene: NPHP1 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: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Nephronophthisis 1, juvenile (256100); Joubert syndrome 4 (609583)
Ductal plate malformation v0.2 NME8 Ivone Leong gene: NME8 was added
gene: NME8 was added to Ductal plate malformation (DPM). Sources: UKTGN,Emory Genetics Laboratory
Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary, 6 (610852)
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)
Ductal plate malformation v0.2 NEK1 Ivone Leong gene: NEK1 was added
gene: NEK1 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: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly (263520)
Ductal plate malformation v0.2 MKS1 Ivone Leong gene: MKS1 was added
gene: MKS1 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: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Joubert syndrome 28 (617121); Bardet-Biedl syndrome 13 (615990); Meckel syndrome 1 (249000)
Ductal plate malformation v0.2 MKKS Ivone Leong gene: MKKS was added
gene: MKKS 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: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6 (605231)
Ductal plate malformation v0.2 MAPKBP1 Ivone Leong gene: MAPKBP1 was added
gene: MAPKBP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20 (617271)
Ductal plate malformation v0.2 LRP5 Ivone Leong gene: LRP5 was added
gene: LRP5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP5 were set to Polycystic liver disease 4 with or without kidney cysts (617875)
Ductal plate malformation v0.2 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Joubert syndrome 12 (200990)
Ductal plate malformation v0.2 KIF14 Ivone Leong gene: KIF14 was added
gene: KIF14 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12 (616258)
Ductal plate malformation v0.2 KIAA0586 Ivone Leong gene: KIAA0586 was added
gene: KIAA0586 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23 (616490)
Ductal plate malformation v0.2 IQCB1 Ivone Leong gene: IQCB1 was added
gene: IQCB1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5 (609254)
Ductal plate malformation v0.2 INVS Ivone Leong gene: INVS was added
gene: INVS 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: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile
Ductal plate malformation v0.2 INTU Ivone Leong gene: INTU was added
gene: INTU was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly (617925); ?Orofaciodigital syndrome XVII (617926)
Ductal plate malformation v0.2 INPP5E Ivone Leong gene: INPP5E was added
gene: INPP5E was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1 (213300)
Ductal plate malformation v0.2 IFT80 Ivone Leong gene: IFT80 was added
gene: IFT80 was added to Ductal plate malformation (DPM). Sources: Expert list,UKTGN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly (611263)
Ductal plate malformation v0.2 IFT52 Ivone Leong gene: IFT52 was added
gene: IFT52 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly (617102)
Ductal plate malformation v0.2 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly (615630)
Ductal plate malformation v0.2 IFT140 Ivone Leong gene: IFT140 was added
gene: IFT140 was added to Ductal plate malformation (DPM). Sources: UKTGN,Illumina TruGenome Clinical Sequencing Services,Expert list
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly (266920)
Ductal plate malformation v0.2 IFT122 Ivone Leong gene: IFT122 was added
gene: IFT122 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 (218330)
Ductal plate malformation v0.2 HYLS1 Ivone Leong gene: HYLS1 was added
gene: HYLS1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome (236680)
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)
Ductal plate malformation v0.2 GANAB Ivone Leong gene: GANAB was added
gene: GANAB was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)
Ductal plate malformation v0.2 EVC2 Ivone Leong gene: EVC2 was added
gene: EVC2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome (225500)
Ductal plate malformation v0.2 EVC Ivone Leong gene: EVC was added
gene: EVC was added to Ductal plate malformation (DPM). Sources: UKGTN,Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome (225500)
Ductal plate malformation v0.2 DYNC2LI1 Ivone Leong gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly (617088)
Ductal plate malformation v0.2 DYNC2H1 Ivone Leong gene: DYNC2H1 was added
gene: DYNC2H1 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: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly (613091)
Ductal plate malformation v0.2 DNAL1 Ivone Leong gene: DNAL1 was added
gene: DNAL1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16 (614017)
Ductal plate malformation v0.2 DNAI2 Ivone Leong gene: DNAI2 was added
gene: DNAI2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAI2 was set to Unknown
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus (612444)
Ductal plate malformation v0.2 DNAI1 Ivone Leong gene: DNAI1 was added
gene: DNAI1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus (244400)
Ductal plate malformation v0.2 DNAH5 Ivone Leong gene: DNAH5 was added
gene: DNAH5 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus (608644)
Ductal plate malformation v0.2 DNAH11 Ivone Leong gene: DNAH11 was added
gene: DNAH11 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus (611884)
Ductal plate malformation v0.2 DNAAF3 Ivone Leong gene: DNAAF3 was added
gene: DNAAF3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2 (606763)
Ductal plate malformation v0.2 DNAAF2 Ivone Leong gene: DNAAF2 was added
gene: DNAAF2 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF2 was set to Unknown
Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10 (612518)
Ductal plate malformation v0.2 DNAAF1 Ivone Leong gene: DNAAF1 was added
gene: DNAAF1 was added to Ductal plate malformation (DPM). Sources: UKGTN,Emory Genetics Laboratory
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13 (613193)
Ductal plate malformation v0.2 DDX59 Ivone Leong gene: DDX59 was added
gene: DDX59 was added to Ductal plate malformation (DPM). Sources: UKGTN
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V (174300)
Ductal plate malformation v0.2 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21 (615636)
Ductal plate malformation v0.2 C5orf42 Ivone Leong gene: C5orf42 was added
gene: C5orf42 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: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Orofaciodigital syndrome VI (277170); Joubert syndrome 17 (614615)
Ductal plate malformation v0.2 CEP83 Ivone Leong gene: CEP83 was added
gene: CEP83 was added to Ductal plate malformation (DPM). Sources: UKTGN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP83 were set to Nephronophthisis 18 (615862)
Ductal plate malformation v0.2 CEP41 Ivone Leong gene: CEP41 was added
gene: CEP41 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: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15 (614464)
Ductal plate malformation v0.2 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 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: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Meckel syndrome 4 (611134); Joubert syndrome 5 (610188); ?Bardet-Biedl syndrome 14 (615991)
Ductal plate malformation v0.2 CEP164 Ivone Leong gene: CEP164 was added
gene: CEP164 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15 (614845)
Ductal plate malformation v0.2 CEP120 Ivone Leong gene: CEP120 was added
gene: CEP120 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP120 were set to Joubert syndrome 31 (617761); Short-rib thoracic dysplasia 13 with or without polydactyly (616300)
Ductal plate malformation v0.2 CEP104 Ivone Leong gene: CEP104 was added
gene: CEP104 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP104 were set to Joubert syndrome 25 (616781)
Ductal plate malformation v0.2 CCDC40 Ivone Leong gene: CCDC40 was added
gene: CCDC40 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: CCDC40 was set to Unknown
Phenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15 (613808)
Ductal plate malformation v0.2 CCDC39 Ivone Leong gene: CCDC39 was added
gene: CCDC39 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: CCDC39 was set to Unknown
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14 (613807)
Ductal plate malformation v0.2 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A 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: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9 (612285); Meckel syndrome 6 (612284); COACH syndrome (216360)
Ductal plate malformation v0.2 C2CD3 Ivone Leong gene: C2CD3 was added
gene: C2CD3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to ?Orofaciodigital syndrome XIV (615948)
Ductal plate malformation v0.2 BBS9 Ivone Leong gene: BBS9 was added
gene: BBS9 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: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9 (615986)
Ductal plate malformation v0.2 BBS7 Ivone Leong gene: BBS7 was added
gene: BBS7 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: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7 (615984)
Ductal plate malformation v0.2 BBS5 Ivone Leong gene: BBS5 was added
gene: BBS5 was added to Ductal plate malformation (DPM). Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5 (615983)
Ductal plate malformation v0.2 BBS4 Ivone Leong gene: BBS4 was added
gene: BBS4 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: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4 (615982)
Ductal plate malformation v0.2 BBS2 Ivone Leong gene: BBS2 was added
gene: BBS2 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: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2 (615981)
Ductal plate malformation v0.2 BBS12 Ivone Leong gene: BBS12 was added
gene: BBS12 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: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12 (615989)
Ductal plate malformation v0.2 BBS10 Ivone Leong gene: BBS10 was added
gene: BBS10 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: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10 (615987)
Ductal plate malformation v0.2 BBS1 Ivone Leong gene: BBS1 was added
gene: BBS1 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: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 (209900)
Ductal plate malformation v0.2 B9D2 Ivone Leong gene: B9D2 was added
gene: B9D2 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: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D2 were set to Joubert syndrome 34 (614175); ?Meckel syndrome 10 (614175)
Ductal plate malformation v0.2 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 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: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9 (614209); Joubert syndrome 27 (617120)
Ductal plate malformation v0.2 ARL6 Ivone Leong gene: ARL6 was added
gene: ARL6 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: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to {Bardet-Biedl syndrome 1, modifier of} (209900); Bardet-Biedl syndrome 3 (600151)
Ductal plate malformation v0.2 ARL13B Ivone Leong gene: ARL13B was added
gene: ARL13B was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8 (612291)
Ductal plate malformation v0.2 ANKS6 Ivone Leong gene: ANKS6 was added
gene: ANKS6 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16
Ductal plate malformation v0.2 ALMS1 Ivone Leong gene: ALMS1 was added
gene: ALMS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Emory Genetics Laboratory
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome (203800)
Ductal plate malformation v0.2 ALG8 Ivone Leong gene: ALG8 was added
gene: ALG8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874)
Ductal plate malformation v0.2 AHI1 Ivone Leong gene: AHI1 was added
gene: AHI1 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: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 3 (608629)
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)
Ductal plate malformation Ellen McDonagh approved panel