ClinGen Dosage Sensitivity Curation Page

GRCh37 Location Search Results

  • Submitted location: chr2:44,000,000-45,000,000

"N/A" indicates that this gene has not yet been evaluated

Location search results
Gene Symbol Haploinsufficiency score Triplosensitivity score Curation Status Region Location (GRCh37) ExAC pLI OMIM Relationship to Submitted Location ISCA ID
DYNC2LI1 N/A N/A Awaiting Review chr2:44,001,178-44,037,149 0.0 Contained ISCA-791
ABCG5 30: Gene associated with autosomal recessive phenotype Not yet evaluated Complete chr2:44,039,611-44,065,958 0.0 605459 Contained ISCA-35806
ABCG8 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,066,103-44,105,605 0.0 611465 Contained ISCA-12332
LRPPRC 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,113,363-44,223,144 0.0 607544 Contained ISCA-25314
RNU6-1048P N/A N/A Awaiting Review chr2:44,119,831-44,119,934 Contained ISCA-42099
RN7SL455P N/A N/A Awaiting Review chr2:44,131,551-44,131,832 Contained ISCA-38013
RNU6-566P N/A N/A Awaiting Review chr2:44,381,928-44,382,034 Contained ISCA-42782
PPM1B N/A N/A Awaiting Review chr2:44,395,942-44,461,742 0.11 603770 Contained ISCA-26721
RPL12P19 N/A N/A Awaiting Review chr2:44,497,672-44,498,294 Contained ISCA-10238
SLC3A1 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,502,597-44,547,963 0.0 104614 Contained ISCA-29498
PREPL 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,544,746-44,589,001 0.0 609557 Contained ISCA-23484
CAMKMT N/A N/A Awaiting Review chr2:44,589,043-44,999,731 0.0 609559 Contained ISCA-19054
Location search results
Region Name Haploinsufficiency score Triplosensitivity score Curation Status Region Location (GRCh37) ExAC pLI OMIM Relationship to Submitted Location ISCA ID
2p21 region (includes PREPL and SLC3A1) 30: Gene associated with autosomal recessive phenotype 0 Complete chr2:44,410,272-44,589,641 Contained ISCA-37440