| Paper (year, URL) | Patient count | Inheritance | Variant(s) (HGVS c./p.) | Variant type | Key phenotypes | Outcomes / notes |
|---|---:|---|---|---|---|---|
| Lenz et al. (2018), https://doi.org/10.1038/gim.2017.260 | 7 patients from 5 families | Autosomal recessive; biallelic SCYL1 variants | Specific HGVS variants not extracted in evidence; reported as biallelic SCYL1 variants | Not extracted in evidence | Recurrent low/normal-GGT cholestasis or acute liver failure in infancy; febrile infection-triggered liver crises; hepatomegaly; splenomegaly in some; fibrosis in all reported patients; later variable neurologic phenotype including microcephaly, language delay, motor dysfunction, tremor, gait abnormality; skeletal abnormalities in some (pqac-00000000, pqac-00000034) | One child underwent liver transplantation at 23 months; crises were transient but fibrosis developed (pqac-00000000) |
| Isa et al. (2023), https://doi.org/10.7759/cureus.36249 | 1 | Autosomal recessive; homozygous | c.895A>T; p.Lys299Ter | Nonsense | Recurrent febrile-illness–triggered acute liver failure; hepatomegaly/hepatosplenomegaly; developmental delay; progressive gait deterioration; intention tremor; severe speech delay; mild/moderate intellectual disability; minimal periventricular white matter MRI changes (pqac-00000030, pqac-00000031, pqac-00000032) | Managed supportively; liver transplantation discussed but not performed; variant described as novel and likely pathogenic (pqac-00000030, pqac-00000033) |
| Youssef et al. (2023), https://doi.org/10.1155/2023/3010131 | 1 | SCYL1-associated CALFAN syndrome; inheritance not explicitly extracted in evidence for this case | SCYL1 mutation; specific variant not fully specified in evidence | Not fully extracted in evidence | Infantile-onset recurrent jaundice / pediatric acute liver failure with later neurologic sequelae; explant pathology showed cirrhosis, cholestatic liver injury, and bile ductular proliferation; persistent cerebellar atrophy and neurologic deficits after transplant (pqac-00000008, pqac-00000010) | Liver transplantation at age 20; doing well at 3-year follow-up; biliary stricture resolved; no acute cellular rejection reported (pqac-00000008, pqac-00000009, pqac-00000010) |
| Suenera & Navinummapathy (2025), URL not available in retrieved evidence | 1 | Autosomal recessive; homozygous | c.745_746insG; protein consequence not extracted in evidence | Truncating / frameshift insertion | Recurrent pediatric acute liver failure with cholestasis; hepatosplenomegaly; canalicular cholestasis; degeneration and mild fibrosis; evolving neurologic features including cerebellar atrophy and peripheral neuropathy; PFIC-like overlap (pqac-00000002, pqac-00000003, pqac-00000005) | Supportive/emergency management described (infection control, IV NAC, correction of coagulopathy, fat-soluble vitamins, ursodeoxycholic acid, lactulose); liver transplantation considered for progressive failure (pqac-00000002, pqac-00000003, pqac-00000004) |
| Yadav et al. (2026), https://doi.org/10.58427/apghn.5.2.2026.86-97 | 1 | Autosomal recessive; homozygous | c.1567C>T; p.Arg523* | Nonsense / null | 9-month-old infant with fever-triggered cholestatic jaundice and acute liver failure; low/normal-GGT cholestasis; no neurologic, neuroimaging, or skeletal abnormalities at presentation; family history of sibling death from infantile liver failure (pqac-00000001) | Emphasized early genomic testing, longitudinal neurologic surveillance, transplant referral when indicated, and recurrence-risk counseling; expands spectrum by showing isolated infantile hepatic presentation initially (pqac-00000001, pqac-00000007) |


*Table: This table summarizes SCYL1 pathogenic variants and associated clinical notes for CALFAN syndrome from the retrieved literature. It highlights reported HGVS changes, inheritance, major phenotypes, and clinically important outcomes such as liver transplantation.*