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| Limb disorders v8.1 | BBIP1 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: BBIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.1 | BBIP1 | Ida Ertmanska changed review comment from: Comment on list classification: 2 patients reported in literature with BBS and biallelic BBIP1 variants had polydactyly / brachydactyly. Hence, this gene can only be rated Amber on Limb disorders given available evidence.; to: Comment on list classification: 3 unrelated patients reported in literature with BBS and biallelic BBIP1 variants had polydactyly / brachydactyly. Hence, this gene can be updated to Green on Limb disorders at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v8.1 | 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. No phenotypic details provided. 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). Phenotype: Obesity, ID, polydactyly (s/p removal), end stage RP. 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. |
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| Limb disorders v7.25 | BBIP1 | Ida Ertmanska Phenotypes for gene: BBIP1 were changed from ?Bardet-Biedl syndrome 18, 615995 to Bardet-Biedl syndrome 18, OMIM:615995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.24 | BBIP1 | Ida Ertmanska Publications for gene: BBIP1 were set to 24026985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.23 | BBIP1 | Ida Ertmanska Classified gene: BBIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.23 | BBIP1 | Ida Ertmanska Added comment: Comment on list classification: 2 patients reported in literature with BBS and biallelic BBIP1 variants had polydactyly / brachydactyly. Hence, this gene can only be rated Amber on Limb disorders given available evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.23 | BBIP1 | Ida Ertmanska Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v7.22 | 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. No phenotypic details provided. 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. |
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| Limb disorders v7.22 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.106 | BBIP1 |
Eleanor Williams gene: BBIP1 was added gene: BBIP1 was added to Limb disorders. 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, 615995 Added comment: Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Only 1 case reported. Sources: Expert list |
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