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| Fetal anomalies v7.2 | CLCF1 |
Ida Ertmanska gene: CLCF1 was added gene: CLCF1 was added to Fetal anomalies. Sources: Literature Q2_26_promote_green tags were added to gene: CLCF1. Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCF1 were set to 16782820; 20400119; 32512309 Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, OMIM:610313; cold-induced sweating syndrome 2, MONDO:0012467; Elbow contracture, HP:0034391; Bilateral camptodactyly, HP:0005617 Review for gene: CLCF1 was set to GREEN Added comment: PMID: 32512309 Buers et al., 2020 11-year-old boy of European ancestry, homozygous for CLCF1 c.321C>G, p.Tyr107*, with Crisponi Syndrome/cold-induced sweating syndrome 2. PMID: 20400119 Hahn et al., 2010 Case 1 - female patient, Hungarian (non-consanguineous parents), 25yo - she had bilateral campodactyly (hands and feet), elbow contractures, dysmorphic features, thoracolumbar scoliosis, dry and scaly skin in neonatal period, and oral-facial weakness; from age 10 years she experienced excessive sweating triggered by cold or stressors; neurodevelopment was normal. Case 2 - sibling of Case 1, 20yo - similarly affected, with profuse sweating in cold temperatures, difficulty sucking and swallowing in infancy, elbow contracture, campodactyly, scoliosis. Both sibs had CLCF1 variants c.46T>C, p.Cys16Arg and c.676T>C, p.*226Argext*170 (both absent from gnomAD v4.1.1). No sequence variants detected in CRLF1 Case 3 & 4 - identical presentation, but biallelic CRLF1 variants detected. PMID: 16782820 Rousseau et al., 2006 Australian man examined at age 46 years - he had feeding difficulties in infancy, lifelong issue of profuse sweating in cold temperatures and unable to sweat in hot conditions; also noted to have elbow contractures, campodactyly and syndactyly, thoracolumbar scoliosis and lumbar lordosis, mild sensorimotor peripheral neuropathy; brain MRI and tomography were normal. No family history. He was compound heterozygous for CLCF1 c.590G>T, p.Arg197Leu and c.321C>A, p.Tyr107* (not in gnomAD v4). Functional evidence: PMID: 19098279 Zou et al., 2009 - A complete knock-out of CLCF1 in mice is lethal at P1: underdeveloped motor neurons of the face and jaw prevent the pups from suckling - multifocal neuronal hypoplasia phenotype. This gene is associated with AR Cold-induced sweating syndrome 2, OMIM:610313 in OMIM (accessed 11th May 2026). CLCF1 is not yet associated with a condition in G2P or ClinGen. Sources: Literature |
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| Fetal anomalies v0.134 | CRLF1 | Rebecca Foulger edited their review of gene: CRLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CRLF1 | Rebecca Foulger reviewed gene: CRLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CRLF1 |
Rebecca Foulger gene: CRLF1 was added gene: CRLF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1 272430 |
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