Epidermolysis bullosa and congenital skin fragilityGene: NAXD
After consulting the clinical team at Genomics England, this gene has been added to this panel with an Amber rating (pending more evidence) as there is a skin phenotype is present in patients and may be the first things the patient is being seen for (PMID: 33224489).
Created: 19 Jul 2021, 9:13 a.m. | Last Modified: 19 Jul 2021, 9:13 a.m.
Panel Version: 1.49
Affected individuals show normal early development followed by acute psychomotor regression with ataxia, hypotonia, and sometimes seizures triggered by acute fever. The affected infants usually die in the first few years of life. Brain imaging shows multiple abnormalities, including brain edema and white matter abnormalities. The infants also present with skin lesions/rash.
Created: 9 Jun 2021, 11:05 a.m. | Last Modified: 9 Jun 2021, 11:05 a.m.
Panel Version: 1.165
Comment on publications: PMID: 31755961 and 33224489 are 2 additional cases. PMID: 31755961 did not mention anything about the patient's brain.
Created: 9 Jun 2021, 10:50 a.m. | Last Modified: 9 Jun 2021, 10:50 a.m.
Panel Version: 1.164
Six unrelated families reported.
Sources: Expert list
Created: 15 Sep 2020, 10:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: NAXD. Tag watchlist tag was added to gene: NAXD.
gene: NAXD was added gene: NAXD was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber,Expert list Q2_21_rating tags were added to gene: NAXD. Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXD were set to 30576410; 33224489; 31755961 Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321