Limb disordersGene: NXN
Robinow syndrome White AJHG 2018
Created: 1 Aug 2019, 5:10 p.m. | Last Modified: 1 Aug 2019, 5:10 p.m.
Panel Version: 1.24
Comment on list classification: Only two unrelated families to date so amber rating - agreed with Genomics England clinical team.
Created: 26 Nov 2019, 12:05 a.m. | Last Modified: 26 Nov 2019, 12:05 a.m.
Panel Version: 1.120
Now associated with Robinow syndrome, autosomal recessive 2 #618529 (AR) in OMIM.
Created: 26 Nov 2019, 12:03 a.m. | Last Modified: 26 Nov 2019, 12:03 a.m.
Panel Version: 1.118
Comment on mode of inheritance: 2 cases to date are biallelic
Created: 6 Aug 2019, 8 p.m. | Last Modified: 6 Aug 2019, 8 p.m.
Panel Version: 1.35
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).
Created: 6 Aug 2019, 7:59 p.m. | Last Modified: 6 Aug 2019, 8:03 p.m.
Panel Version: 1.35
Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Created: 1 Aug 2019, 4:12 p.m.
Mode of inheritance
Tag watchlist tag was added to gene: NXN.
Gene: nxn has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NXN were changed from Robinow syndrome to Robinow syndrome, autosomal recessive 2, 618529
Mode of inheritance for gene: NXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NXN were changed from to Robinow syndrome
Publications for gene: NXN were set to
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