Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Bardet Biedl syndrome v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.13 | C8orf37 | Arina Puzriakova commented on gene: C8orf37 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.13 | C8orf37 | Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.13 | IFT27 | Ivone Leong Tag for-review was removed from gene: IFT27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.13 | IFT74 | Ivone Leong Tag for-review was removed from gene: IFT74. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.13 | IFT74 | Ivone Leong commented on gene: IFT74: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.13 | IFT27 | Ivone Leong commented on gene: IFT27: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.12 | IFT74 |
Ivone Leong Source Expert Review Green was added to IFT74. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Bardet Biedl syndrome v1.12 | IFT27 |
Ivone Leong Source Expert Review Green was added to IFT27. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Bardet Biedl syndrome v1.11 | BBS1 | Sarah Leigh Publications for gene: BBS1 were set to 12118255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.10 | BBS1 | Sarah Leigh Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.9 | ALMS1 | Arina Puzriakova Tag curated_removed tag was added to gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.9 | IFT74 | Ivone Leong changed review comment from: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be made Green at the next review.; to: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 32144365 is the second case for this gene. Taken together there are 2 cases and an animal model. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be made Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.9 | IFT74 | Ivone Leong Publications for gene: IFT74 were set to 27486776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.8 | IFT74 | Ivone Leong Classified gene: IFT74 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.8 | IFT74 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be made Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.8 | IFT74 | Ivone Leong Gene: ift74 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.7 | IFT74 | Ivone Leong Tag for-review tag was added to gene: IFT74. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.7 | C8orf37 | Ivone Leong Classified gene: C8orf37 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.7 | C8orf37 | Ivone Leong Added comment: Comment on list classification: This gene has been promoted from Red to Amber as there are 2 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.7 | C8orf37 | Ivone Leong Gene: c8orf37 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.6 | C8orf37 | Ivone Leong Phenotypes for gene: C8orf37 were changed from Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 to Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308; Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786; Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.5 | IFT27 | Arina Puzriakova Publications for gene: IFT27 were set to 24488770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.4 | IFT27 | Arina Puzriakova Classified gene: IFT27 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.4 | IFT27 | Arina Puzriakova Added comment: Comment on list classification: With the addition of recent publications, there are now at least four unrelated cases reported, and therefore enough evidence for a rating upgrade from Amber to GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.4 | IFT27 | Arina Puzriakova Gene: ift27 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.3 | IFT27 | Arina Puzriakova Tag for-review tag was added to gene: IFT27. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.3 | IFT27 | Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 29588463; Phenotypes: Bardet-Biedl syndrome 19, 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.25 | Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.24 | IFT27 | Ivone Leong reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.24 | MKS1 | Ivone Leong reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.24 | LZTFL1 | Ivone Leong reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.23 | Ivone Leong List of related panels changed from to R107 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.22 | WDPCP | Ivone Leong Publications for gene: WDPCP were set to 20671153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.21 | WDPCP | Ivone Leong Classified gene: WDPCP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.21 | WDPCP | Ivone Leong Added comment: Comment on list classification: Demoted from green to amber. There are several unrelated cases of oral-facial-digital syndromes caused by variants in WDPCP; however, there is only 1 case of BBS (PMID: 28289185,25427950 and 27158779). Therefore, this gene has been demoted to amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.21 | WDPCP | Ivone Leong Gene: wdpcp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.19 | TTC8 | Ivone Leong Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985; Bardet Biedl syndrome 8, 615985 to Bardet-Biedl syndrome 8, 615985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.18 | SDCCAG8 | Ivone Leong Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl Syndrome, 615993; Bardet-Biedl syndrome 16, 615993 to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.17 | MKKS | Ivone Leong Phenotypes for gene: MKKS were changed from Bardet-Biedl syndrome 6, 605231; Bardet Biedl syndrome 6, 236700; McKusick-Kaufman syndrome, 236700 to Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.16 | BBS9 | Ivone Leong Phenotypes for gene: BBS9 were changed from Bardet Biedl syndrome 9, 615986; Bardet-Biedl syndrome 9, 615986 to Bardet Biedl syndrome 9, 615986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.15 | BBS7 | Ivone Leong Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, 615984; Bardet Biedl syndrome 7, 615984 to Bardet-Biedl syndrome 7, 615984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.14 | BBS5 | Ivone Leong Phenotypes for gene: BBS5 were changed from Bardet Biedl syndrome 5, 615983; Bardet-Biedl syndrome 5, 615983 to Bardet Biedl syndrome 5, 615983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.13 | BBS4 | Ivone Leong Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982; Bardet Biedl syndrome 4, 615982 to Bardet-Biedl syndrome 4, 615982 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.12 | BBS2 | Ivone Leong Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome 2, 615981; Bardet Biedl syndrome 2, 615981 to Bardet-Biedl syndrome 2, 615981 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | C8orf37 | Tom Cullup reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: Heon et al 2016 PMID: 27008867, Estrada-Cuzcano et al 2012 PMID: 22177090; Phenotypes: Bardet-Biedl syndrome 21 617406, Cone-rod dystrophy 16, Retinitis pigmentosa 64 614500 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | IFT74 | Tom Cullup reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: ; Publications: Lindstrand et al 2016 PMID 27486776; Phenotypes: ?Bardet-Biedl syndrome 20 617119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | IFT27 | Tom Cullup reviewed gene: IFT27: Rating: RED; Mode of pathogenicity: ; Publications: Aldahmesh et al 2014 PMID: 24488770; Phenotypes: ?Bardet-Biedl syndrome 19 615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBIP1 | Tom Cullup reviewed gene: BBIP1: Rating: RED; Mode of pathogenicity: ; Publications: Scheidecker et al 2014 PMID: 24026985; Phenotypes: ?Bardet-Biedl syndrome 18 615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | LZTFL1 | Tom Cullup reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: Marion et al 2012 PMID: 22510444; Phenotypes: Bardet-Biedl syndrome 17 615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | SDCCAG8 | Tom Cullup reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: Otto et al 2010 PMID: 20835237; Phenotypes: Bardet-Biedl syndrome 16 615993, Senior-Loken syndrome 7 613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | WDPCP | Tom Cullup reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: Kim et al 2010 PMID: 20671153; Phenotypes: ?Bardet-Biedl syndrome 15 615992, ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | CEP290 | Tom Cullup reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Valente et al 2006 PMID: 16682970, den Hollander et al 2006 PMID: 16909394, Baala et al 2007 PMID: 17160906, Sayer et al 2006 PMID: 16682973; Phenotypes: Bardet-Biedl syndrome 14 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10 611755, Meckel syndrome 4 611134, Senior-Loken syndrome 6 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | MKS1 | Tom Cullup reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Leitch et al 2008 PMID: 20177705, Kyttala et al 2006 PMID: 16415886, Romani et al 2014 PMID, 24886560; Phenotypes: Bardet-Biedl syndrome 13 615990, Meckel syndrome 1 249000, Joubert syndrome 28 617121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS12 | Tom Cullup reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2007 PMID: 17160889; Phenotypes: Bardet-Biedl syndrome 12 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | TRIM32 | Tom Cullup reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: Chiang et al 2006 PMID: 16606853, Frosk et al 2002 PMID: 11822024; Phenotypes: ?Bardet-Biedl syndrome 11 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS10 | Tom Cullup reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: Stoetzel et 2006 PMID: 16582908; Phenotypes: Bardet-Biedl syndrome 10 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS9 | Tom Cullup reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 16380913; Phenotypes: Bardet-Biedl syndrome 9 615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | TTC8 | Tom Cullup reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: Ansley et al 2003 PMID: 14520415; Phenotypes: Bardet-Biedl syndrome 8 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS7 | Tom Cullup reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: Badano et al PMID: 12567324; Phenotypes: Bardet-Biedl syndrome 7 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | MKKS | Tom Cullup reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: Katsanis et al 2000 PMID: 10973251, Stone et al 2000 PMID: 10802661; Phenotypes: Bardet-Biedl syndrome 6 605231, McKusick-Kaufman syndrome 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS5 | Tom Cullup reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: Li et al 2004 PMID: 15137946; Phenotypes: Bardet-Biedl syndrome 5 615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS4 | Tom Cullup reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2001 PMID: 11381270; Phenotypes: Bardet-Biedl syndrome 4 615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | ARL6 | Tom Cullup reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: Chiang et al 2004 PMID: 15258860, Fan et al 2004 PMID: 15314642; Phenotypes: Bardet-Biedl syndrome 3 600151, ?Retinitis pigmentosa 55 613575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS2 | Tom Cullup reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: Nishimura et al 2001 PMID: 11285252; Phenotypes: Bardet-Biedl syndrome 2 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.11 | BBS1 | Tom Cullup reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: Mykytyn et al 2002 PMID: 12118255; Phenotypes: Bardet-Biedl syndrome 1 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.10 | BBS12 | Ivone Leong Phenotypes for gene: BBS12 were changed from Bardet Biedl syndrome 12, 615989; Bardet-Biedl syndrome 12, 615989 to Bardet Biedl syndrome 12, 615989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.9 | BBS10 | Ivone Leong Phenotypes for gene: BBS10 were changed from Bardet Biedl syndrome 10, 615987; Bardet-Biedl syndrome 10, 615987 to Bardet Biedl syndrome 10, 615987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.8 | BBS1 | Ivone Leong Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900; Bardet Biedl syndrome 1, 209900 to Bardet-Biedl syndrome 1, 209900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.7 | ARL6 | Ivone Leong Phenotypes for gene: ARL6 were changed from ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3, 600151 to ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.6 | C8orf37 |
Ivone Leong Source NHS GMS was added to C8orf37. Added phenotypes Bardet-Biedl syndrome 21, 617406; Cone-rod dystrophy 16; Retinitis pigmentosa 64, 614500 for gene: C8orf37 Publications for gene C8orf37 were changed from 26854863; 27008867 to 22177090; 27008867 |
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Bardet Biedl syndrome v0.6 | IFT74 |
Ivone Leong Source NHS GMS was added to IFT74. Added phenotypes ?Bardet-Biedl syndrome 20, 617119 for gene: IFT74 |
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Bardet Biedl syndrome v0.6 | IFT27 |
Ivone Leong Source NHS GMS was added to IFT27. Added phenotypes ?Bardet-Biedl syndrome 19, 615996 for gene: IFT27 Publications for gene IFT27 were changed from to 24488770 |
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Bardet Biedl syndrome v0.6 | BBIP1 |
Ivone Leong Source NHS GMS was added to BBIP1. Added phenotypes ?Bardet-Biedl syndrome 18, 615995 for gene: BBIP1 |
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Bardet Biedl syndrome v0.6 | LZTFL1 |
Ivone Leong Source NHS GMS was added to LZTFL1. Added phenotypes Bardet-Biedl syndrome 17, 615994 for gene: LZTFL1 Publications for gene LZTFL1 were changed from to 22510444 |
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Bardet Biedl syndrome v0.6 | SDCCAG8 |
Ivone Leong Source NHS GMS was added to SDCCAG8. Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8 Publications for gene SDCCAG8 were changed from to 20835237 |
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Bardet Biedl syndrome v0.6 | WDPCP |
Ivone Leong Source NHS GMS was added to WDPCP. Added phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WDPCP Publications for gene WDPCP were changed from to 20671153 |
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Bardet Biedl syndrome v0.6 | CEP290 |
Ivone Leong gene: CEP290 was added gene: CEP290 was added to Bardet Biedl syndrome. Sources: NHS GMS Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP290 were set to 20177705; 17160906; 16682973; 16682970; 16909394 Phenotypes for gene: CEP290 were set to Senior-Loken syndrome 6, 610189; Leber congenital amaurosis 10, 611755; Joubert syndrome 5, 610188; Bardet-Biedl syndrome 14, 615991; Meckel syndrome 4, 611134 |
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Bardet Biedl syndrome v0.6 | MKS1 |
Ivone Leong Source NHS GMS was added to MKS1. Added phenotypes Bardet-Biedl syndrome 13, 615990; Meckel syndrome 1, 249000; Joubert syndrome 28, 617121 for gene: MKS1 Publications for gene MKS1 were changed from to 16415886; 20177705; 4886560 |
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Bardet Biedl syndrome v0.6 | BBS12 |
Ivone Leong Source NHS GMS was added to BBS12. Added phenotypes Bardet-Biedl syndrome 12, 615989 for gene: BBS12 Publications for gene BBS12 were changed from to 17160889 |
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Bardet Biedl syndrome v0.6 | TRIM32 |
Ivone Leong Source NHS GMS was added to TRIM32. Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32 |
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Bardet Biedl syndrome v0.6 | BBS10 |
Ivone Leong Source NHS GMS was added to BBS10. Added phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10 Publications for gene BBS10 were changed from to 16582908 |
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Bardet Biedl syndrome v0.6 | BBS9 |
Ivone Leong Source NHS GMS was added to BBS9. Added phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9 Publications for gene BBS9 were changed from to 16380913 |
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Bardet Biedl syndrome v0.6 | TTC8 |
Ivone Leong Source NHS GMS was added to TTC8. Added phenotypes Bardet-Biedl syndrome 8, 615985 for gene: TTC8 Publications for gene TTC8 were changed from to 14520415 |
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Bardet Biedl syndrome v0.6 | BBS7 |
Ivone Leong Source NHS GMS was added to BBS7. Added phenotypes Bardet-Biedl syndrome 7, 615984 for gene: BBS7 Publications for gene BBS7 were changed from to 12567324 |
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Bardet Biedl syndrome v0.6 | MKKS |
Ivone Leong Source NHS GMS was added to MKKS. Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS Publications for gene MKKS were changed from to 10973251; 10802661 |
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Bardet Biedl syndrome v0.6 | BBS5 |
Ivone Leong Source NHS GMS was added to BBS5. Added phenotypes Bardet-Biedl syndrome 5, 615983 for gene: BBS5 Publications for gene BBS5 were changed from to 15137946 |
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Bardet Biedl syndrome v0.6 | BBS4 |
Ivone Leong Source NHS GMS was added to BBS4. Added phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4 Publications for gene BBS4 were changed from to 11381270 |
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Bardet Biedl syndrome v0.6 | ARL6 |
Ivone Leong Source NHS GMS was added to ARL6. Added phenotypes ?Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 600151 for gene: ARL6 Publications for gene ARL6 were changed from to 15314642; 15258860 |
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Bardet Biedl syndrome v0.6 | BBS2 |
Ivone Leong Source NHS GMS was added to BBS2. Added phenotypes Bardet-Biedl syndrome 2, 615981 for gene: BBS2 Publications for gene BBS2 were changed from to 11285252 |
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Bardet Biedl syndrome v0.6 | BBS1 |
Ivone Leong Source NHS GMS was added to BBS1. Added phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1 Publications for gene BBS1 were changed from to 12118255 |
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Bardet Biedl syndrome v0.4 | TRIM32 |
Ivone Leong gene: TRIM32 was added gene: TRIM32 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM32 were set to 16606853; 11822024 Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11, 615988 |
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Bardet Biedl syndrome v0.4 | IFT74 |
Ivone Leong gene: IFT74 was added gene: IFT74 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20, 617119 |
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Bardet Biedl syndrome v0.4 | CCDC28B |
Ivone Leong gene: CCDC28B was added gene: CCDC28B was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 23015189 Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900 |
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Bardet Biedl syndrome v0.4 | C8orf37 |
Ivone Leong gene: C8orf37 was added gene: C8orf37 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8orf37 were set to 26854863; 27008867 Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, 617406 |
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Bardet Biedl syndrome v0.4 | BBIP1 |
Ivone Leong gene: BBIP1 was added gene: BBIP1 was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBIP1 were set to 24026985 Phenotypes for gene: BBIP1 were set to ?Bardet-Biedl syndrome 18, 615995 |
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Bardet Biedl syndrome v0.4 | IFT27 |
Ivone Leong gene: IFT27 was added gene: IFT27 was added to Bardet Biedl syndrome. Sources: Expert Review Amber Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT27 were set to ?Bardet-Biedl syndrome 19, 615996 |
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Bardet Biedl syndrome v0.3 | ALMS1 | Anna de Burca Classified gene: ALMS1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.3 | ALMS1 | Anna de Burca Added comment: Comment on list classification: Associated with Alstrom syndrome rather than Bardet-Biedl syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.3 | ALMS1 | Anna de Burca Gene: alms1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bardet Biedl syndrome v0.2 | WDPCP |
Ivone Leong gene: WDPCP was added gene: WDPCP was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | TTC8 |
Ivone Leong gene: TTC8 was added gene: TTC8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | TMEM67 |
Ivone Leong gene: TMEM67 was added gene: TMEM67 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}, 615991 |
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Bardet Biedl syndrome v0.2 | SDCCAG8 |
Ivone Leong gene: SDCCAG8 was added gene: SDCCAG8 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl Syndrome, 615993 |
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Bardet Biedl syndrome v0.2 | MKS1 |
Ivone Leong gene: MKS1 was added gene: MKS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKS1 were set to Bardet-Biedl syndrome 13, 615990 |
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Bardet Biedl syndrome v0.2 | MKKS |
Ivone Leong gene: MKKS was added gene: MKKS was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6, 236700 |
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Bardet Biedl syndrome v0.2 | LZTFL1 |
Ivone Leong gene: LZTFL1 was added gene: LZTFL1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 |
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Bardet Biedl syndrome v0.2 | BBS9 |
Ivone Leong gene: BBS9 was added gene: BBS9 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | BBS7 |
Ivone Leong gene: BBS7 was added gene: BBS7 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | BBS5 |
Ivone Leong gene: BBS5 was added gene: BBS5 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | BBS4 |
Ivone Leong gene: BBS4 was added gene: BBS4 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | BBS2 |
Ivone Leong gene: BBS2 was added gene: BBS2 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | BBS12 |
Ivone Leong gene: BBS12 was added gene: BBS12 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | BBS10 |
Ivone Leong gene: BBS10 was added gene: BBS10 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | BBS1 |
Ivone Leong gene: BBS1 was added gene: BBS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | ARL6 |
Ivone Leong gene: ARL6 was added gene: ARL6 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other 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 |
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Bardet Biedl syndrome v0.2 | ALMS1 |
Ivone Leong gene: ALMS1 was added gene: ALMS1 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800; Bardet-Biedl Syndrome |
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Bardet Biedl syndrome v0.0 |
Ellen McDonagh Added Panel Bardet Biedl syndrome Set panel types to: GMS Rare Disease |