Submission Details


posterior column ataxia-retinitis pigmentosa syndrome
Mode Of Inheritance:
Autosomal recessive
Evaluated Date:
The FLVCR1 gene is located on chromosome 1 at 1q32.3 and encodes the FLVCR heme transporter 1 protein, a member of the major facilitator superfamily of transporter proteins which is specifically involved in the transmembrane transport of cytoplasmic heme. The protein plays a critical role in erythropoiesis by protecting the developing erythroid cells from heme toxicity. FLVCR1 was first reported in relation to autosomal recesssive posterior column ataxia-retinitis pigmentosa syndrome in 2010 (21070897: Rajadhyaksha et al. 2010). At least 11 unique variants (including missense and loss of function variants) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data, segregation data and experimental evidence. Variants in this gene have been reported in at least seven probands in three publications (27923065: Chiabrando et al. 2016; 27353947: Tiwari et al. 2016; 30656474: Kuehlewein et al. 2019). Variants in this gene segregated with disease in two families. Clinical variability was noted with affected individuals presenting with either posterior column ataxia with retinitis pigmentosa (PCARP), non-syndromic retinitis pigmentosa, or hereditary sensory and autonomic neuropathy (HSAN). More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. It is suggested that the underlying disease mechanism may be heme overload (27923065: Chiabrando et al. 2016). This gene-disease relationship is supported by expression studies and in vitro functional assays in patient and non-patient cells (21070897: Rajadhyaksha et al. 2010; 27923065: Chiabrando et al. 2016). In summary, FLVCR1 is definitively associated with autosomal recessive posterior column ataxia-retinitis pigmentosa syndrome.
PubMed IDs:
27923065 30656474 27353947 21070897
Assertion Criteria:
Submitter Submitted Date:

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact