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| Unexplained young onset end-stage renal disease v0.56 | ANOS1 |
Eleanor Williams changed review comment from: PMID:9719154 reports overt renal failure in one adult with a contiguous deletion involving KAL1/ANOS1, and evidence of impaired renal function in a second adult with a clinical diagnosis of Kallmann syndrome. Both had unilateral renal agenesis. Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene. Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype.; to: PMID:9719154 Duke et al 1998 - reports overt renal failure in one adult with a contiguous deletion involving KAL1/ANOS1, and evidence of impaired renal function in a second adult with a clinical diagnosis of Kallmann syndrome. Both had unilateral renal agenesis. PMID: 17603054 - Georgopoulos et al 2007 - report renal dysgenesis in 2 out of 16 male KS patients. One had two missense mutations in the KAL1 gene, the other had deletion of exons 5–10 of the KAL1 gene and a complete deletion of the steroid sulphatase (STS) gene which accounts for the X-linked ichthyosis seen in that patient. PMID: 23533228 - Costa-Barbosa et al 2014 - report a cohort of 38 Kallman syndrome patients with rare variants in KAL1. 3/17 of them (where data was available) had renal agenesis. PMID: 25597551 - Xu et al 2015 - report 2 Chinese brothers with KS and X-linked ichthyosis. The phenotypes of the patients were characterised by bilateral cryptorchidism, unilateral renal agenesis in one patient but normal kidney development in another. The two affected siblings had the same novel deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene. Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene. Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype. |
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| Unexplained young onset end-stage renal disease v0.56 | ANOS1 |
Eleanor Williams changed review comment from: Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene. ANOS1 was previously known as KAL1. Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype.; to: PMID:9719154 reports overt renal failure in one adult with a contiguous deletion involving KAL1/ANOS1, and evidence of impaired renal function in a second adult with a clinical diagnosis of Kallmann syndrome. Both had unilateral renal agenesis. Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene. Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype. |
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| Unexplained young onset end-stage renal disease v0.45 | ANOS1 | Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not present with a disease phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.45 | ANOS1 | Eleanor Williams Mode of inheritance for gene: ANOS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.44 | ANOS1 |
Eleanor Williams commented on gene: ANOS1: Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene. ANOS1 was previously known as KAL1. Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype. |
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| Unexplained young onset end-stage renal disease v0.2 | ANOS1 | Eleanor Williams reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | ANOS1 |
Eleanor Williams gene: ANOS1 was added gene: ANOS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ANOS1 were set to 9719154; 11531922 Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Kallman syndrome |
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