Table 1 Genes in which sequence variants cause OI

From: EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Gene

OMIM (Gene)

RefSeqGene genomic reference

RefSeq mRNA reference

RefSeq protein reference

Locus reference genomic (LRG)

COL1A1

120150

NG_007400.1

NM_000088.3

NP_000079.2

LRG_1

COL1A2

120160

NG_007405.1

NM_000089.3

NP_000080.2

LRG_2

CRTAP

605497

NG_008122.1

NM_006371.4

NP_006362.1

LRG_4

FKBP10

607063

NG_015860.1

NM_021939.3

NP_068758.3

LRG_12

LEPRE1

610339

NG_008123.1

NM_022356.3 (transcript variant 1)

NP_071751.3 (isoform 1, P3H1a, long)

LRG_5

   

NM_001146289.1 (transcript variant 2)

NP_001139761.1 (isoform 2, P3H1b, short)

 

PLOD2

601865

NG_009251.1

NM_182943.2 (transcript variant 1)

NP_891988.1 (isoform 1, LH2b, long)

—a

   

NM_000935.2 (transcript variant 2)

NP_000926.2 (isoform 2, LH2a, short)

 

PPIB

123841

NG_012979.1

NM_000942.4

NP_000933.1

LRG_10

SERPINF1

172860

NG_028180.1

NM_002615.5

NP_002606.3

—a

SERPINH1

600943

NG_012052.1

NM_001235.2

NP_001226.2

—a

SP7

606633

NG_023391.1

NM_001173467.1 (transcript variant 1)

NP_001166938.1b

—a

   

NM_152860.1 (transcript variant 2)

NP_690599.1b

 
  1. aLRG sequences have been developed to provide a stable genomic reference for each gene region annotated with transcripts, proteins and other associated data.44 For some recently discovered genes in which sequence variation causes OI, no LRG is available yet.
  2. bThe two transcripts of the SP7 gene are translated into identical proteins.
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