From: Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
Region | Start (bp) | End (bp) | Cases involved* | Reported phenotypes** | OMIM genes |
---|---|---|---|---|---|
R1 | 2090000 | 4050000 | 1 | Highly arched palate, short neck, posteriorly rotated ears | GMDS, WRNIP1, SERPINB1, SERPINB9, SERPINB6, NQO2, RIPK1, BPHL, TUBB2A, TUBB2B, SLC22A23, FAM50B, PRPF4B |
R2 | 4050001 | 4745144 | 1,2 | Blue sclera | CDYL |
R3 | 4745145 | 5968242 | P,1,2 | Umbilical hernia | CDYL, RPP40, LYRM4, FARS2 |
R4 | 5968243 | 6100000 | P, 1, 2, 4 | Motor development delay***, broad nasal bridge | NRN1, |
R5 | 6100001 | 8330000 | P, 1, 2, 3, 4 | Pectus excavatum***, hemangioma***, cardiac anomalies***, hypotonia, hypertelorism***, low set ears***, hair abnormalities***, long fingers, mild joint hypermobility, | F13A1, LY86, RREB1, SSR1, CAGE1, DSP, BMP6, BLOC1S5, EEF1E1 |
R6 | 8330001 | 8882919 | P, 2, 3, 4 | Micrognathia/retrognathia | SLC35B3, HULC |
R7 | 8882920 | 9910000 | P, 2, 3 | Cardiac anomalies, flat nose, bilateral cleft lip***, overlapping toes | OFCC1 |
R8 | 9910001 | 10384769 | P, 3 | Â | Â |
R9 | 10384770 | 10450000 | 3 | Eye anomalies*** | TFAP2A |