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Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Marked gene: LMBR1 as ready
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Classified gene: LMBR1 as Green List (high evidence)
Radial Ray Abnormalities v0.53 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Radial Ray Abnormalities v0.52 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Radial Ray Abnormalities. Sources: Expert list
SV/CNV tags were added to gene: LMBR1.
Mode of inheritance for gene: LMBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMBR1 were set to Laurin-Sandrow syndrome, MIM# 135750
Review for gene: LMBR1 was set to GREEN
Added comment: Radial aplasia but with ulnar dimelia. Reported microduplications in LMBR1 associated with Laurin-Sandrow syndrome are in the SHH regulatory element (ZRS) that resides in intron 5 of the LMBR1 gene. Duplications are >10kb.
Sources: Expert list