| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb disorders v1.120 | NXN | Eleanor Williams Tag watchlist tag was added to gene: NXN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.120 | NXN | Eleanor Williams Classified gene: NXN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.120 | NXN | Eleanor Williams Added comment: Comment on list classification: Only two unrelated families to date so amber rating - agreed with Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.120 | NXN | Eleanor Williams Gene: nxn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.119 | NXN | Eleanor Williams Phenotypes for gene: NXN were changed from Robinow syndrome to Robinow syndrome, autosomal recessive 2, 618529 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.118 | NXN | Eleanor Williams commented on gene: NXN: Now associated with Robinow syndrome, autosomal recessive 2 #618529 (AR) in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.35 | NXN |
Eleanor Williams changed review comment from: Not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. Family 2 - although her overall length was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning.; to: Not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. A homozygous stopgain variant in NXN c.625C>T [p.Arg209∗] was found to be inherited from consanguineous parents. Family 2 - although the overall length of the proband was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning. The siblings shared compound heterozygous biallelic variants in NXN: a maternally inherited in-frame 3-bp deletion (c.1234_1236del [p.Glu412del]) and a paternally inherited intragenic 84-kb deletion that encompasses the entire first exon chr17:g.805043::GAGG…..AATG::889090). |
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| Limb disorders v1.35 | NXN | Eleanor Williams Added comment: Comment on mode of inheritance: 2 cases to date are biallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.35 | NXN | Eleanor Williams Mode of inheritance for gene: NXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.34 | NXN | Eleanor Williams Phenotypes for gene: NXN were changed from to Robinow syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.33 | NXN |
Eleanor Williams commented on gene: NXN: Not associated with any phenotype in OMIM or Gene2Phenotype. PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. Family 2 - although her overall length was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning. |
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| Limb disorders v1.33 | NXN | Eleanor Williams Publications for gene: NXN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.24 | NXN | Andrew Wilkie reviewed gene: NXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.15 | NXN |
Eleanor Williams gene: NXN was added gene: NXN was added to Limb disorders. Sources: Expert list Mode of inheritance for gene: NXN was set to Unknown Review for gene: NXN was set to AMBER Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust Sources: Expert list |
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