Gene: [15q2/CLN6] ceroid-lipofuscinosis, neuronal 6, late infantile, variant; [LINCL ]

LIN

By homozygosity mapping, the gene was shown to be located on 15q. Further analyses in the 2 families and study of 7 additional variant LINCL families localized the gene to 15q21-q23. A maximum total lod score of 6.0 was obtained at marker D15S1020 (theta = 0.00) (Sharp-1997)."

HET

See GEM:01p32/PPT[:HET].

REF

PAT,FOG,LIN,LOC "Sharp JD &: Hum Mol Genet, 6, N4, 591-595, 1997

KEY

neu, lip

CLA

unknown, basic

LOC

15 q21-23

MIM

MIM: 601780

SYN

LINCL