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Bardet Biedl syndrome v2.0 TRIM32 Gene migrated from ENSG00000119401 to ENSG00000119401 (gene set migration)
Bardet Biedl syndrome v2.0 WDPCP Gene migrated from ENSG00000143951 to ENSG00000143951 (gene set migration)
Bardet Biedl syndrome v2.0 CEP19 Gene migrated from ENSG00000174007 to ENSG00000174007 (gene set migration)
Bardet Biedl syndrome v2.0 IFT57 Gene migrated from ENSG00000114446 to ENSG00000114446 (gene set migration)
Bardet Biedl syndrome v2.0 CFAP418 Gene symbol changed from C8orf37 to CFAP418 during gene set migration (ENSG00000156172 -> ENSG00000156172)
Bardet Biedl syndrome v2.0 BBS7 Gene migrated from ENSG00000138686 to ENSG00000138686 (gene set migration)
Bardet Biedl syndrome v2.0 BBS2 Gene migrated from ENSG00000125124 to ENSG00000125124 (gene set migration)
Bardet Biedl syndrome v2.0 SCAPER Gene migrated from ENSG00000140386 to ENSG00000140386 (gene set migration)
Bardet Biedl syndrome v2.0 IFT74 Gene migrated from ENSG00000096872 to ENSG00000096872 (gene set migration)
Bardet Biedl syndrome v2.0 MKKS Gene migrated from ENSG00000125863 to ENSG00000125863 (gene set migration)
Bardet Biedl syndrome v2.0 LZTFL1 Gene migrated from ENSG00000163818 to ENSG00000163818 (gene set migration)
Bardet Biedl syndrome v2.0 CEP290 Gene migrated from ENSG00000198707 to ENSG00000198707 (gene set migration)
Bardet Biedl syndrome v2.0 BBS12 Gene migrated from ENSG00000181004 to ENSG00000181004 (gene set migration)
Bardet Biedl syndrome v2.0 BBS10 Gene migrated from ENSG00000179941 to ENSG00000179941 (gene set migration)
Bardet Biedl syndrome v2.0 TTC8 Gene migrated from ENSG00000165533 to ENSG00000165533 (gene set migration)
Bardet Biedl syndrome v2.0 ALMS1 Gene migrated from ENSG00000116127 to ENSG00000116127 (gene set migration)
Bardet Biedl syndrome v2.0 ARL6 Gene migrated from ENSG00000113966 to ENSG00000113966 (gene set migration)
Bardet Biedl syndrome v2.0 IFT172 Gene migrated from ENSG00000138002 to ENSG00000138002 (gene set migration)
Bardet Biedl syndrome v2.0 BBS1 Gene migrated from ENSG00000174483 to ENSG00000174483 (gene set migration)
Bardet Biedl syndrome v2.0 IFT27 Gene migrated from ENSG00000100360 to ENSG00000100360 (gene set migration)
Bardet Biedl syndrome v2.0 BBS5 Gene migrated from ENSG00000163093 to ENSG00000163093 (gene set migration)
Bardet Biedl syndrome v2.0 CEP164 Gene migrated from ENSG00000110274 to ENSG00000110274 (gene set migration)
Bardet Biedl syndrome v2.0 BBS4 Gene migrated from ENSG00000140463 to ENSG00000140463 (gene set migration)
Bardet Biedl syndrome v2.0 MKS1 Gene migrated from ENSG00000011143 to ENSG00000011143 (gene set migration)
Bardet Biedl syndrome v2.0 BBS9 Gene migrated from ENSG00000122507 to ENSG00000122507 (gene set migration)
Bardet Biedl syndrome v2.0 SDCCAG8 Gene migrated from ENSG00000054282 to ENSG00000054282 (gene set migration)
Bardet Biedl syndrome v2.0 BBIP1 Gene migrated from ENSG00000214413 to ENSG00000214413 (gene set migration)
Bardet Biedl syndrome v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.14
Bardet Biedl syndrome v1.14 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to 24026985; 32055034
Bardet Biedl syndrome v1.13 BBIP1 Zornitza Stark Classified gene: BBIP1 as Green List (high evidence)
Bardet Biedl syndrome v1.13 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v1.12 BBIP1 Zornitza Stark edited their review of gene: BBIP1: Added comment: Third family with homozygous LoF variant reported; Changed rating: GREEN; Changed publications: 24026985, 32055034, 37239474
Bardet Biedl syndrome v1.12 IFT57 Krithika Murali Marked gene: IFT57 as ready
Bardet Biedl syndrome v1.12 IFT57 Krithika Murali Gene: ift57 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v1.12 IFT57 Krithika Murali Classified gene: IFT57 as Amber List (moderate evidence)
Bardet Biedl syndrome v1.12 IFT57 Krithika Murali Gene: ift57 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v1.11 IFT57 Krithika Murali changed review comment from: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:
- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness
- Post-axial polydactyly
- Obesity and type 2 diabetes
- Moderate sensorineural hearing loss

Biallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).

Patient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells.
Sources: Literature; to: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:
- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness
- Post-axial polydactyly
- Learning difficulties
- Obesity and type 2 diabetes

- Moderate sensorineural hearing loss

Biallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).

Patient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells.
Sources: Literature
Bardet Biedl syndrome v1.11 IFT57 Krithika Murali gene: IFT57 was added
gene: IFT57 was added to Bardet Biedl syndrome. Sources: Literature
Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT57 were set to PMID:40273360
Phenotypes for gene: IFT57 were set to Bardet-Bield syndrome; ciliopathy - MONDO:0005308
Review for gene: IFT57 was set to AMBER
Added comment: PMID:40273360 Nitoiu et al 2025 report a male with clinical features of Bardet-Biedl syndrome. Phenotypic features include:
- Vision issues - night vision loss, progressive cone-rod dystrophy leading to legal blindness
- Post-axial polydactyly
- Obesity and type 2 diabetes
- Moderate sensorineural hearing loss

Biallelic IFT57 variants were identified on short-read genomic sequencing after negative panel-based clinical testing - NM_018010.4 (IFT57): c.1190 T>A;p.(Val397Glu) and c.675del; p.(Lys225Asnfs∗17).

Patient-derived fibroblasts had fewer primary cilia, abnormal ciliary morphology and abnormal anterograde transport in the primary cilia. IFT57 knockout mouse models did not form primary cilia. Treatment with IFT57-WT restored cilia formation while IFT57-Val397Glu only partially rescued cilia formation in Ift57-KO-mouse cells.
Sources: Literature
Bardet Biedl syndrome v1.10 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome 20, MIM# 619471
Bardet Biedl syndrome v1.9 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype. Gene is associated with other ciliopathies as well.
Bardet Biedl syndrome v1.9 IFT172 Zornitza Stark edited their review of gene: IFT172: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 619471
Bardet Biedl syndrome v1.9 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, MIM# 615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444
Bardet Biedl syndrome v1.8 SDCCAG8 Zornitza Stark edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444
Bardet Biedl syndrome v1.8 CEP164 Zornitza Stark Phenotypes for gene: CEP164 were changed from Nephronophthisis 15, MIM# 614845 to Bardet-Biedl syndrome
Bardet Biedl syndrome v1.7 CEP164 Zornitza Stark Publications for gene: CEP164 were set to
Bardet Biedl syndrome v1.6 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Bardet Biedl syndrome v1.6 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v1.5 CEP164 Zornitza Stark changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.
Sources: Expert list
Bardet Biedl syndrome v1.5 CEP164 Zornitza Stark edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome
Bardet Biedl syndrome v1.5 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, MIM#615986 to Bardet-Biedl syndrome 9, MIM#615986; MONDO:0014437
Bardet Biedl syndrome v1.4 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Bardet-Biedl syndrome 7, MIM# 615984 to Bardet-Biedl syndrome 7, MIM# 615984; MONDO:0014435
Bardet Biedl syndrome v1.3 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Bardet-Biedl syndrome 5, MIM#615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Bardet Biedl syndrome v1.2 BBS5 Zornitza Stark edited their review of gene: BBS5: Changed phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434
Bardet Biedl syndrome v1.2 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, MIM#615982 to Bardet-Biedl syndrome 4, MIM#615982; MONDO:0014433
Bardet Biedl syndrome v1.1 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Bardet-Biedl syndrome 13, MIM# 615990 to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Bardet Biedl syndrome v1.0 MKS1 Zornitza Stark edited their review of gene: MKS1: Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441
Bardet Biedl syndrome v1.0 Zornitza Stark promoted panel to version 1.0
Bardet Biedl syndrome v0.78 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Bardet Biedl syndrome v0.78 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.78 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from to Bardet-Biedl syndrome
Bardet Biedl syndrome v0.77 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Bardet Biedl syndrome v0.76 IFT172 Zornitza Stark Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.75 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Bardet Biedl syndrome v0.75 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.75 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from to Bardet-Biedl syndrome 13, MIM# 615990
Bardet Biedl syndrome v0.74 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Bardet Biedl syndrome v0.73 MKS1 Zornitza Stark Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.72 MKS1 Zornitza Stark reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18327255, 24608809; Phenotypes: Bardet-Biedl syndrome 13, MIM# 615990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.72 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Bardet Biedl syndrome v0.72 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.72 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from to Bardet-Biedl syndrome 9, MIM#615986
Bardet Biedl syndrome v0.71 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Bardet Biedl syndrome v0.70 BBS9 Zornitza Stark Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.69 BBS9 Zornitza Stark reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 16380913, 22353939, 32686083, 32037757; Phenotypes: Bardet-Biedl syndrome 9, MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.69 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Bardet Biedl syndrome v0.69 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.69 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from to Bardet-Biedl syndrome 7, MIM# 615984
Bardet Biedl syndrome v0.68 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Bardet Biedl syndrome v0.67 BBS7 Zornitza Stark Mode of inheritance for gene: BBS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.66 BBS7 Zornitza Stark reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12567324, 21937992, 19797195; Phenotypes: Bardet-Biedl syndrome 7, MIM# 615984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.66 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Bardet Biedl syndrome v0.66 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.66 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from to Bardet-Biedl syndrome 5, MIM#615983
Bardet Biedl syndrome v0.65 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Bardet Biedl syndrome v0.64 BBS5 Zornitza Stark Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.63 BBS5 Zornitza Stark reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.63 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Bardet Biedl syndrome v0.63 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.63 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from to Bardet-Biedl syndrome 4, MIM#615982
Bardet Biedl syndrome v0.62 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Bardet Biedl syndrome v0.61 BBS4 Zornitza Stark Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.60 BBS4 Zornitza Stark reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12016587, 11381270; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.60 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Bardet Biedl syndrome v0.60 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.60 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from to Bardet-Biedl syndrome 2, MIM# 615981
Bardet Biedl syndrome v0.59 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Bardet Biedl syndrome v0.58 BBS2 Zornitza Stark Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.57 BBS2 Zornitza Stark reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567139, 16823392, 28143435; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.57 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Bardet Biedl syndrome v0.57 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.57 LZTFL1 Zornitza Stark Phenotypes for gene: LZTFL1 were changed from to Bardet-Biedl syndrome 17 (MIM#615994)
Bardet Biedl syndrome v0.56 LZTFL1 Zornitza Stark Publications for gene: LZTFL1 were set to
Bardet Biedl syndrome v0.55 LZTFL1 Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.54 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Bardet Biedl syndrome v0.54 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.54 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from to Bardet-Biedl syndrome 14, MIM# 615991
Bardet Biedl syndrome v0.53 CEP290 Zornitza Stark Publications for gene: CEP290 were set to 18327255; 20690115
Bardet Biedl syndrome v0.53 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Bardet Biedl syndrome v0.52 CEP290 Zornitza Stark Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.51 CEP290 Zornitza Stark reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 18327255, 20690115; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.51 IFT172 Zornitza Stark changed review comment from: Three families reported with a BBS phenotype, although this association is not listed in OMIM. Gene is associated with other ciliopathies as well.; to: Three families reported with a BBS phenotype, although this association is not listed in OMIM or MONDO. Gene is associated with other ciliopathies as well.
Bardet Biedl syndrome v0.51 IFT172 Zornitza Stark reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 26763875, 25168386; Phenotypes: Bardet-Biedl syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.51 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Bardet Biedl syndrome v0.51 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.51 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from to Bardet-Biedl syndrome 12, MIM# 615989
Bardet Biedl syndrome v0.50 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Bardet Biedl syndrome v0.49 BBS12 Zornitza Stark Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.48 BBS12 Zornitza Stark reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19797195, 29633607, 26082521; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.48 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Bardet Biedl syndrome v0.48 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.48 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from to Bardet-Biedl syndrome 10, MIM# 615987
Bardet Biedl syndrome v0.47 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Bardet Biedl syndrome v0.46 BBS10 Zornitza Stark Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.45 BBS10 Zornitza Stark reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16582908, 19252258; Phenotypes: Bardet-Biedl syndrome 10, MIM# 615987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.45 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Bardet Biedl syndrome v0.45 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.45 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from to Bardet-Biedl syndrome 16, MIM# 615993
Bardet Biedl syndrome v0.44 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Bardet Biedl syndrome v0.43 SDCCAG8 Zornitza Stark Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.42 SDCCAG8 Zornitza Stark reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.42 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Bardet Biedl syndrome v0.42 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.42 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from to Bardet-Biedl syndrome 8, MIM# 615985
Bardet Biedl syndrome v0.41 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Bardet Biedl syndrome v0.40 TTC8 Zornitza Stark Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.39 TTC8 Zornitza Stark reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM# 615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.39 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Bardet Biedl syndrome v0.39 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.39 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome, MIM# 203800
Bardet Biedl syndrome v0.38 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.37 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Bardet Biedl syndrome v0.37 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.37 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from to Bardet-Biedl syndrome 1, MIM# 209900
Bardet Biedl syndrome v0.36 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Bardet Biedl syndrome v0.35 BBS1 Zornitza Stark Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.34 BBS1 Zornitza Stark reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20177705; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.34 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Bardet Biedl syndrome v0.34 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.34 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Bardet Biedl syndrome v0.33 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Bardet Biedl syndrome v0.32 ARL6 Zornitza Stark Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.31 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.31 MKKS Zornitza Stark Marked gene: MKKS as ready
Bardet Biedl syndrome v0.31 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.31 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from to Bardet-Biedl syndrome 6 (MIM#605231)
Bardet Biedl syndrome v0.30 MKKS Zornitza Stark Publications for gene: MKKS were set to
Bardet Biedl syndrome v0.29 MKKS Zornitza Stark Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.28 MKKS Crystle Lee reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973251; Phenotypes: Bardet-Biedl syndrome 6 (MIM#605231); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.28 LZTFL1 Crystle Lee reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011, 22072986; Phenotypes: Bardet-Biedl syndrome 17 (MIM#615994); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.28 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Bardet Biedl syndrome v0.28 CEP19 Zornitza Stark Gene: cep19 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.28 CEP19 Bryony Thompson gene: CEP19 was added
gene: CEP19 was added to Bardet Biedl syndrome. Sources: Expert list
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 29127258; 24268657
Phenotypes for gene: CEP19 were set to Bardet Biedl syndrome
Review for gene: CEP19 was set to RED
Added comment: Single family with BBS phenotype reported with a homozygous predicted loss of function variant. Has been reported in another family with a morbid obesity syndrome.
Sources: Expert list
Bardet Biedl syndrome v0.27 BBIP1 Zornitza Stark Publications for gene: BBIP1 were set to 24026985
Bardet Biedl syndrome v0.26 BBIP1 Elena Savva reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24026985, 32055034; Phenotypes: Bardet-Biedl Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Bardet Biedl syndrome v0.26 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.25 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Bardet Biedl syndrome. Sources: Literature
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome
Review for gene: SCAPER was set to GREEN
Added comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Literature
Bardet Biedl syndrome v0.24 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Bardet Biedl syndrome v0.23 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776
Bardet Biedl syndrome v0.22 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Bardet Biedl syndrome v0.22 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed rating: GREEN
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark changed review comment from: Single family plus functional data.
Sources: Expert list; to: Single family plus functional data (zebrafish model consistent with ciliopathy).
Sources: Expert list
Bardet Biedl syndrome v0.21 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed publications: 27486776, 32144365
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Classified gene: CEP164 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.21 CEP164 Zornitza Stark Gene: cep164 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.20 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Bardet Biedl syndrome. Sources: Expert list
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronophthisis 15, MIM# 614845
Review for gene: CEP164 was set to AMBER
gene: CEP164 was marked as current diagnostic
Added comment: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype.
Sources: Expert list
Bardet Biedl syndrome v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bardet Biedl syndrome v0.18 Zornitza Stark Panel name changed from Bardet Biedl syndrome_VCGS to Bardet Biedl syndrome
Panel types changed to Victorian Clinical Genetics Services
Bardet Biedl syndrome v0.17 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.17 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from to Bardet-Biedl syndrome 15, MIM# 615992
Bardet Biedl syndrome v0.16 WDPCP Zornitza Stark Publications for gene: WDPCP were set to
Bardet Biedl syndrome v0.15 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.14 WDPCP Zornitza Stark Classified gene: WDPCP as Red List (low evidence)
Bardet Biedl syndrome v0.14 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.13 WDPCP Zornitza Stark reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: None; Publications: 20671153, 25427950; Phenotypes: Bardet-Biedl syndrome 15, MIM# 615992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Bardet Biedl syndrome v0.13 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Bardet Biedl syndrome v0.12 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Expert list
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.11 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.10 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well.
Sources: Expert list
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.9 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.8 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
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, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: Single patient described with bi-allelic variants in this gene. Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.
Sources: Expert list
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.7 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.6 IFT74 Zornitza Stark Classified gene: IFT74 as Amber List (moderate evidence)
Bardet Biedl syndrome v0.6 IFT74 Zornitza Stark Gene: ift74 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v0.5 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Bardet Biedl syndrome_VCGS. Sources: Expert list
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, MIM# 617119
Review for gene: IFT74 was set to AMBER
Added comment: Single family plus functional data.
Sources: Expert list
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from Bardet-Biedl syndrome 11, MIM# 615988 to Bardet-Biedl syndrome 11, MIM# 615988
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.4 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to 16606853
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Bardet Biedl syndrome v0.3 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.2 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.2 TRIM32 Zornitza Stark Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.1 TRIM32 Zornitza Stark Classified gene: TRIM32 as Red List (low evidence)
Bardet Biedl syndrome v0.1 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Bardet Biedl syndrome v0.0 TRIM32 Zornitza Stark reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: None; Publications: 16606853; Phenotypes: Bardet-Biedl syndrome 11, MIM# 615988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDPCP was set to Unknown
Bardet Biedl syndrome v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC8 was set to Unknown
Bardet Biedl syndrome v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIM32 was set to Unknown
Bardet Biedl syndrome v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Bardet Biedl syndrome v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MKS1 was set to Unknown
Bardet Biedl syndrome v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MKKS was set to Unknown
Bardet Biedl syndrome v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LZTFL1 was set to Unknown
Bardet Biedl syndrome v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT172 was set to Unknown
Bardet Biedl syndrome v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP290 was set to Unknown
Bardet Biedl syndrome v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS9 was set to Unknown
Bardet Biedl syndrome v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS7 was set to Unknown
Bardet Biedl syndrome v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS5 was set to Unknown
Bardet Biedl syndrome v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS4 was set to Unknown
Bardet Biedl syndrome v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS2 was set to Unknown
Bardet Biedl syndrome v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS12 was set to Unknown
Bardet Biedl syndrome v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS10 was set to Unknown
Bardet Biedl syndrome v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BBS1 was set to Unknown
Bardet Biedl syndrome v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARL6 was set to Unknown
Bardet Biedl syndrome v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Bardet Biedl syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALMS1 was set to Unknown
Bardet Biedl syndrome v0.0 Zornitza Stark Added panel Bardet Biedl syndrome_VCGS