Table 1.

Genes Associated with Mactel

Study	Genes Involved	Salient Features
Parmalee et al, 201221	Single peak on chromosome 1 at 1q41-42 significant LOD score
Eade et al, 202125	Phosphoglycerate dehydrogenase deficiency (PHGDH) on 1p12 locus	Implicated in glycine and serine metabolism
Gantner et al, 202126	SPTLC1/2 on chromosome 9q22.1-q22.3	Associated with hereditary sensory and autonomic neuropathy type 1, may be associated with MacTel
Bonelli et al, 202127	A single nucleotide polymorphism (SNP) at locus 5q14.3	Associated with variation in retinal vascular diameter
Scerri, T. S. et al, 201728	CPS 1 on 2q34 locus	Implicated in glycine and serine metabolism