Location (from NCBI, GRCh38) |
Gene/Locus | Gene/Locus name |
Gene/Locus MIM number |
Phenotype |
Phenotype MIM number |
Inheritance |
Pheno map key |
Comments |
Mouse symbol (from MGI) |
---|---|---|---|---|---|---|---|---|---|
4:121,667,946-121,696,980
4q27 |
ANXA5, ENX2, RPRGL3 | Annexin A5 (endonexin II) | 131230 | {Pregnancy loss, recurrent, susceptibility to, 3} | 614391 | Autosomal dominant | 3 | Anxa5 | |
4:121,801,323-121,817,021
4q27 |
EXOSC9, PMSCL1, PCH1D | Exosome component 9 | 606180 | Pontocerebellar hypoplasia, type 1D | 618065 | Autosomal recessive | 3 | Exosc9 | |
4:121,816,444-121,823,883
4q27 |
CCNA, CCN1 | Cyclin A | 123835 | Ccna2 | |||||
4:121,824,329-121,870,474
4q27 |
BBS7 | BBS7 gene | 607590 | Bardet-Biedl syndrome 7 | 615984 | Autosomal recessive | 3 | Bbs7 | |
4:121,874,481-121,952,060
4q27 |
TRPC3, TRP3, SCA41 | Transient receptor potential cation channel, subfamily C, member 3 | 602345 | ?Spinocerebellar ataxia 41 | 616410 | Autosomal dominant | 3 | mutation identified in one SCA41 patient | Trpc3 |
4:122,152,331-122,362,752
4q27 |
KIAA1109, ALKKUCS | KIAA1109 gene | 611565 | Alkuraya-Kucinskas syndrome | 617822 | Autosomal recessive | 3 | Bltp1 | |
4:122,379,011-122,429,784
4q27 |
ADAD1, TENR | Adenosine deaminase domain-containing protein 1, testis-specific | 614130 | Adad1 | |||||
4:122,451,470-122,456,725
4q27 |
IL2 | Interleukin-2 | 147680 | Il2 | |||||
4:122,610,108-122,621,066
4q27 |
IL21, CVID11 | Interleukin 21 | 605384 | ?Immunodeficiency, common variable, 11 | 615767 | Autosomal recessive | 3 | mutation identified in 1 CVID11 patient | Il21 |
4:122,700,442-122,744,939
4q27 |
BBS12, FLJ35630, C4orf24 | BBS12 gene | 610683 | Bardet-Biedl syndrome 12 | 615989 | Autosomal recessive | 3 | 1Mb centromeric to BBS | Bbs12 |