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Paediatric disorders - additional genes v1.96 ANOS1 Arina Puzriakova Tag for-review was removed from gene: ANOS1.
Paediatric disorders - additional genes v1.96 ANOS1 Sarah Leigh commented on gene: ANOS1
Paediatric disorders - additional genes v1.95 ANOS1 Arina Puzriakova Source Expert Review Green was added to ANOS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v1.56 ANOS1 Arina Puzriakova Classified gene: ANOS1 as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.56 ANOS1 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.
Paediatric disorders - additional genes v1.56 ANOS1 Arina Puzriakova Gene: anos1 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.31 ANOS1 Rebecca Foulger Classified gene: ANOS1 as Green List (high evidence)
Paediatric disorders - additional genes v1.31 ANOS1 Rebecca Foulger Gene: anos1 has been classified as Green List (High Evidence).
Paediatric disorders - additional genes v1.30 ANOS1 Rebecca Foulger Classified gene: ANOS1 as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.30 ANOS1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green, awaiting GLH review. Sufficient cases to support Kallman syndrome association, which can present with phenotypes beyond renal, some of which could be detected at birth.
Paediatric disorders - additional genes v1.30 ANOS1 Rebecca Foulger Gene: anos1 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.29 ANOS1 Rebecca Foulger commented on gene: ANOS1: PMID:16423815. Trarbach et al 2005 report 12 Kallmann syndrome (KS) patients. Two ANOS1 variants (referred to as KAL-1 gene) were found in 2 KS patients (Arg191X, and del1956C leading to a premature stop codon at 617). A patient with a KAL-1 microdeletion was also reported. Renal agenesis and bimanual synkinesis were observed in these cases.
Paediatric disorders - additional genes v1.29 ANOS1 Rebecca Foulger Publications for gene: ANOS1 were set to 1518845
Paediatric disorders - additional genes v1.28 ANOS1 Rebecca Foulger Phenotypes for gene: ANOS1 were changed from CAKUT; Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) to CAKUT; Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700
Paediatric disorders - additional genes v1.22 ANOS1 Rebecca Foulger changed review comment from: Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.; to: Added 'for-review' tag: Requires GLH review as to whether phenotype is sufficient for inclusion on Paediatric disorders panel.
Paediatric disorders - additional genes v1.22 ANOS1 Rebecca Foulger changed review comment from: Sufficient cases of variants in ANOS1 to support association with Kallmann syndrome (MIM:308700). KS phenotypes are present at birth and can include renal agenesis, and micropenis. Cases are often reported at puberty with lack of sexual development.; to: Sufficient cases of variants in ANOS1 to support association with Kallmann syndrome (MIM:308700). KS phenotypes are present at birth and can include renal agenesis, and micropenis. Cases are often reported at puberty with lack of sexual development.
Paediatric disorders - additional genes v1.22 ANOS1 Rebecca Foulger Publications for gene: ANOS1 were set to
Paediatric disorders - additional genes v1.21 ANOS1 Rebecca Foulger commented on gene: ANOS1: Sufficient cases of variants in ANOS1 to support association with Kallmann syndrome (MIM:308700). KS phenotypes are present at birth and can include renal agenesis, and micropenis. Cases are often reported at puberty with lack of sexual development.
Paediatric disorders - additional genes v1.9 ANOS1 Rebecca Foulger Classified gene: ANOS1 as Amber List (moderate evidence)
Paediatric disorders - additional genes v1.9 ANOS1 Rebecca Foulger Gene: anos1 has been classified as Amber List (Moderate Evidence).
Paediatric disorders - additional genes v1.4 ANOS1 Rebecca Foulger Tag for-review tag was added to gene: ANOS1.
Paediatric disorders - additional genes v1.4 ANOS1 Rebecca Foulger commented on gene: ANOS1: Added 'for-review' tag: Requires GLH review as to whether CAKUT phenotype is sufficient for inclusion on Paediatric disorders panel.
Paediatric disorders - additional genes v1.4 ANOS1 Rebecca Foulger commented on gene: ANOS1
Paediatric disorders - additional genes v1.3 ANOS1 Rebecca Foulger gene: ANOS1 was added
gene: ANOS1 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ANOS1 were set to CAKUT; Kallman syndrome; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)