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Bardet Biedl syndrome v2.16 IFT57 Ida Ertmanska changed review comment from: PMID: 27060890 Thevenon et al., 2016
3 sibs (consanguineous family) with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls.; to: PMID: 27060890 Thevenon et al., 2016
3 sibs aged 17-25 years, from a consanguineous family, with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. No visual complaints, retinopathy no excluded in the study. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls.
Bardet Biedl syndrome v2.16 IFT57 Ida Ertmanska changed review comment from: PMID: 27060890 Thevenon et al., 2016
3 sibs (consanguineous family) with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. All homozygous for IFT57 p.Lys259Lys - leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls.; to: PMID: 27060890 Thevenon et al., 2016
3 sibs (consanguineous family) with oral-facial-digital syndrome with skeletal dysplasia and brachymesophalangia. All homozygous for IFT57 p.Lys259Lys. It is rare in gnomAD v4., no homozygotes reported. Variant leads to exon skipping, decrease in mRNA stability. Both anterograde ciliary transport and sonic hedgehog signaling were significantly decreased in subjects’ fibroblasts compared to controls.
Bardet Biedl syndrome v2.16 IFT57 Ida Ertmanska Phenotypes for gene: IFT57 were changed from Bardet-Biedl syndrome, MONDO:0015229 to Bardet-Biedl syndrome, MONDO:0015229; ?Orofaciodigital syndrome XVIII, OMIM:617927
Bardet Biedl syndrome v2.15 IFT57 Ida Ertmanska Publications for gene: IFT57 were set to 40273360
Bardet Biedl syndrome v2.14 IFT57 Ida Ertmanska Classified gene: IFT57 as Amber List (moderate evidence)
Bardet Biedl syndrome v2.14 IFT57 Ida Ertmanska Added comment: Comment on list classification: As there are 2 unrelated families with ciliopathy reported in literature, together with supportive functional evidence, this gene should now be promoted to Green on Bardet Biedl syndrome.
Bardet Biedl syndrome v2.14 IFT57 Ida Ertmanska Gene: ift57 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v2.13 IFT57 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: IFT57.
Bardet Biedl syndrome v2.13 IFT57 Ida Ertmanska reviewed gene: IFT57: Rating: GREEN; Mode of pathogenicity: None; Publications: 27060890; Phenotypes: ?Orofaciodigital syndrome XVIII, OMIM:617927; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v2.13 BBIP1 Ida Ertmanska changed review comment from: PMID: 37239474 Nawaz et al., 2023
Homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B (Pakistani origin). Affected individual with suspected Bardet–Biedl Syndrome presented with polydactyly, retinal degeneration, obesity, hypogonadism, and renal abnormality. No ID/DD seen.

PMID: 32055034 Shamseldin et al., 2020
A patient with classical BBS (18DG0012) harboured a homozygous novel variant NM_001195305.1:c.38–6T > C (aberrant splicing confirmed by RT-PCR with 86% NMD.

PMID: 24026985 Scheidecker et al., 2014
Italian BBS patient with a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. No BBIP1 protein could be detected in fibroblasts from the patient. He presented with retinitis pigmentosa, obesity, kidney failure, cognitive disability, and brachydactyly. He was diagnosed as affected with BBS at 49 years old. He presented an end-stage renal failure 4 years after the diagnosis.; to: PMID: 37239474 Nawaz et al., 2023
Homozygous nonsense mutation (c.160A>T; p.Lys54Ter) in the BBIP1 (NM_001195306.1) gene in family B (Pakistani origin). Affected individual with suspected Bardet–Biedl Syndrome presented with polydactyly, retinal degeneration, obesity, hypogonadism, and renal abnormality. No ID/DD seen.

PMID: 32055034 Shamseldin et al., 2020
A patient with classical BBS (18DG0012) harboured a homozygous novel variant NM_001195305.1:c.38–6T > C (aberrant splicing confirmed by RT-PCR with 86% NMD. OMIM entry states "The patient was reported to have classic features of BBS, with obesity, impaired intellectual development, polydactyly, and end-stage retinitis pigmentosa." but I was not able to verify this in the primary publication.

PMID: 24026985 Scheidecker et al., 2014
Italian BBS patient with a homozygous stop mutation (NM_001195306: c.173T>G, p.Leu58*) in the BBIP1 gene. No BBIP1 protein could be detected in fibroblasts from the patient. He presented with retinitis pigmentosa, obesity, kidney failure, cognitive disability, and brachydactyly. He was diagnosed as affected with BBS at 49 years old. He presented an end-stage renal failure 4 years after the diagnosis.
Bardet Biedl syndrome v2.13 BBIP1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated on 27 Mar 2026.
Bardet Biedl syndrome v2.13 BBIP1 Ida Ertmanska Phenotypes for gene: BBIP1 were changed from Bardet-Biedl syndrome 18, OMIM:615995; Bardet-Biedl syndrome 18, MONDO:0014446 to Bardet-Biedl syndrome 18, OMIM:615995; Bardet-Biedl syndrome 18, MONDO:0014446
Bardet Biedl syndrome v2.12 BBIP1 Ida Ertmanska Phenotypes for gene: BBIP1 were changed from ?Bardet-Biedl syndrome 18, 615995 to Bardet-Biedl syndrome 18, OMIM:615995; Bardet-Biedl syndrome 18, MONDO:0014446
Bardet Biedl syndrome v2.11 BBIP1 Ida Ertmanska Publications for gene: BBIP1 were set to 24026985
Bardet Biedl syndrome v2.10 BBIP1 Ida Ertmanska Classified gene: BBIP1 as Amber List (moderate evidence)
Bardet Biedl syndrome v2.10 BBIP1 Ida Ertmanska Added comment: Comment on list classification: There are now 3 unrelated individuals reported with biallelic BBIP1 variants and Bardet Biedl syndrome diagnosis. Hence, this gene should be promoted to Green at the next update.
Bardet Biedl syndrome v2.10 BBIP1 Ida Ertmanska Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v2.9 BBIP1 Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: BBIP1.
Bardet Biedl syndrome v2.9 BBIP1 Ida Ertmanska reviewed gene: BBIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24026985, 32055034, 37239474; Phenotypes: Bardet-Biedl syndrome 18, OMIM:615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v2.9 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Bardet Biedl syndrome v2.8 IFT27 Arina Puzriakova Phenotypes for gene: IFT27 were changed from ?Bardet-Biedl syndrome 19, 615996 to Bardet-Biedl syndrome 19, OMIM:615996
Bardet Biedl syndrome v2.7 IFT57 Achchuthan Shanmugasundram Classified gene: IFT57 as Amber List (moderate evidence)
Bardet Biedl syndrome v2.7 IFT57 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is one patient and functional evidence reported, IFT57 should be rated amber with the current evidence.
Bardet Biedl syndrome v2.7 IFT57 Achchuthan Shanmugasundram Gene: ift57 has been classified as Amber List (Moderate Evidence).
Bardet Biedl syndrome v2.6 IFT57 Achchuthan Shanmugasundram Phenotypes for gene: IFT57 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome, MONDO:0015229
Bardet Biedl syndrome v2.5 IFT57 Achchuthan Shanmugasundram Publications for gene: IFT57 were set to PMID: 40273360
Bardet Biedl syndrome v2.4 IFT57 Achchuthan Shanmugasundram reviewed gene: IFT57: Rating: AMBER; Mode of pathogenicity: None; Publications: 40273360; Phenotypes: Bardet-Biedl syndrome, MONDO:0015229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome v2.4 IFT57 Krista Bukele 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-Biedl syndrome
Penetrance for gene: IFT57 were set to unknown
Review for gene: IFT57 was set to AMBER
Added comment: PMID: 40273360 described one case with Bardet-Biedl syndrome and biallelic variant in IFT57 with some functional evidence.
Sources: Literature
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)
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)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Bardet Biedl syndrome v0.0 Ellen McDonagh Added Panel Bardet Biedl syndrome
Set panel types to: GMS Rare Disease