- Panels
- Structural eye disease
- LRMDA
Genes in panel
- ABCB6 2
- ACTB 2
- ACTG1 2
- ADAMTS10 2
- ADAMTS17 2
- ADAMTS18 2
- ADAMTSL4 2
- ALDH1A3 2
- ALX1 5
- ANK3 3
- ARHGAP35 3
- ASPH 4
- ATOH7 2
- B3GALNT2 2
- B3GLCT 2
- BCOR 2
- BEST1 3
- BMP4 2
- BMPR1B 3
- C12orf57 2
- CAPN15 4
- CBS 2
- CC2D2A 2
- CDON 2
- CENPF 2
- CEP290 2
- CHD7 2
- CHRDL1 2
- CLDN19 2
- COL18A1 2
- COL4A1 2
- CPAMD8 2
- CREBBP 2
- CRIM1 3
- CRYAA 4
- CRYBB1 2
- CRYBB2 5
- CRYGC 2
- CYP1B1 2
- DDX58 4
- DOCK6 2
- DYRK1A 2
- EPHA2 5
- ESCO2 2
- FAT1 2
- FBN1 2
- FKTN 2
- FOXC1 3
- FOXD3 3
- FOXE3 5
- FRAS1 2
- FREM1 2
- FREM2 2
- FZD5 3
- GDF6 2
- GJA1 4
- GJA8 2
- GRIP1 2
- HCCS 2
- HHAT 3
- HMX1 2
- IFIH1 2
- INPP5E 2
- ISPD 3
- KDM6A 5
- KIAA0586 4
- KIAA1109 3
- KIF11 5
- KMT2D 2
- LAMB2 2
- LMX1B 2
- LRP2 2
- LRP5 3
- LTBP2 2
- MAB21L2 2
- MAF 2
- MAPRE2 2
- MFRP 2
- MIR204 5
- MITF 3
- MYOC 2
- MYRF 2
- NAA10 2
- NDP 2
- NHS 2
- NUP188 5
- OCRL 2
- OFD1 5
- OTX2 3
- PACS1 3
- PAX2 3
- PAX6 2
- PIGL 2
- PITX2 2
- PITX3 2
- POMGNT1 2
- POMT1 3
- POMT2 3
- PORCN 2
- PRR12 2
- PRSS56 2
- PTCH1 2
- PUF60 2
- PXDN 2
- RAB18 2
- RAB3GAP1 2
- RAB3GAP2 2
- RARB 2
- RAX 2
- RBP4 2
- RERE 2
- RHOA 5
- RIPK4 2
- RPGRIP1L 2
- SALL1 2
- SALL4 2
- SBF2 2
- SH3PXD2B 2
- SHH 2
- SIX6 3
- SLC25A24 5
- SLC38A8 3
- SLC4A4 2
- SMCHD1 2
- SMG8 3
- SMO 3
- SMOC1 2
- SOX2 2
- SRD5A3 2
- STRA6 2
- TBC1D20 2
- TEK 2
- TENM3 3
- TFAP2A 2
- TMEM216 2
- TMEM237 2
- TMEM5 4
- TMEM67 2
- TMEM98 2
- TUBGCP4 2
- VSX2 3
- WDR37 3
- WLS 3
- YAP1 2
- ZEB2 2
- AIPL1 2
- ARR3 2
- BMP7 2
- BMPR1A 2
- BRPF1 2
- C16orf62 1
- CDH2 2
- CDH4 2
- CDK5RAP2 2
- CNNM4 2
- COL2A1 2
- COL6A3 1
- COX7B 3
- CRB1 2
- CRYBA4 2
- CRYBB3 2
- CRYGD 2
- DAG1 2
- EFEMP1 4
- EFTUD2 2
- ERCC1 2
- FANCL 2
- FKRP 3
- FZD4 2
- GDF3 5
- GLI2 3
- HMGB3 2
- HNRNPC 1
- IGBP1 2
- IPO13 2
- KERA 2
- MYH10 2
- NR6A1 2
- NTN1 3
- OLFM2 3
- PDE6D 2
- PDGFRA 2
- PLK4 1
- POMGNT2 2
- PQBP1 4
- SALL2 2
- SCLT1 3
- SIX3 2
- SLC16A12 2
- SLC2A1 2
- SMAD4 2
- SMG9 2
- TBC1D32 3
- TCOF1 2
- TMX3 2
- TOGARAM1 2
- TOMM7 1
- TSC2 3
- TUBB 2
- VAX1 2
- VSX1 2
- WNT2B 1
- ZIC2 2
- ABCA4 2
- ABHD12 2
- ADAM9 2
- ADGRV1 2
- AGBL1 2
- AGK 2
- AGPS 2
- AHI1 2
- ALDH18A1 2
- ALMS1 2
- ALX3 2
- ARL13B 2
- ARL6 2
- ASB10 2
- ATP13A2 2
- BBS1 2
- BBS10 2
- BBS12 2
- BBS2 2
- BBS4 2
- BBS5 2
- BBS7 2
- BBS9 2
- BFSP1 2
- BFSP2 2
- C1QTNF5 2
- C2orf71 3
- C5orf42 4
- C8orf37 3
- CA4 2
- CABP4 2
- CACNA1F 2
- CACNA2D4 2
- CDH23 2
- CDH3 2
- CDHR1 2
- CEP41 2
- CERKL 2
- CHM 2
- CHMP4B 2
- CHST6 2
- CIB2 2
- CLN3 2
- CLN5 2
- CLN6 2
- CLN8 2
- CLRN1 2
- CNGA1 2
- CNGA3 2
- CNGB1 2
- CNGB3 2
- COL11A1 2
- COL11A2 2
- COL8A2 2
- COL9A1 2
- COL9A2 2
- CRX 2
- CRYAB 2
- CRYBA1 2
- CRYGB 2
- CRYGS 2
- CSPP1 2
- CTDP1 2
- CTSD 2
- CYP27A1 2
- CYP4V2 2
- CYP51A1 2
- DCN 2
- DDB1 2
- DDB2 2
- DHCR7 2
- DHDDS 2
- DHX38 2
- DPYD 2
- ELOVL4 2
- ELP4 2
- EP300 2
- EPG5 2
- ERCC2 2
- ERCC3 2
- ERCC4 2
- ERCC5 2
- ERCC6 2
- ERCC8 2
- EYA1 2
- EYS 2
- FADD 2
- FAM111A 2
- FAM126A 3
- FAM161A 2
- FANCA 2
- FANCD2 2
- FANCE 2
- FANCI 2
- FLVCR1 2
- FNBP4 2
- FOXL2 2
- FSCN2 2
- FTL 2
- FYCO1 2
- GALK1 2
- GALT 2
- GCNT2 2
- GFER 2
- GJA3 2
- GNAT1 2
- GNAT2 2
- GNPTG 2
- GPR143 2
- GPR179 2
- GRM6 2
- GRN 2
- GSN 2
- GTF2H5 2
- GUCA1A 2
- GUCA1B 2
- GUCY2D 2
- HARS 3
- HDAC6 2
- HSF4 2
- IDH3B 2
- IKBKG 2
- IMPDH1 2
- IMPG2 2
- INVS 2
- IQCB1 2
- ITPA 2
- ITPR1 2
- JAM3 2
- KAT6B 2
- KCNJ13 2
- KCNV2 2
- KCTD7 2
- KIAA0556 2
- KIF17 2
- KIF26B 1
- KIF7 4
- KLHL7 2
- KRT12 2
- KRT3 2
- LCA5 2
- LCAT 2
- LIM2 2
- LRAT 2
- LRIT3 2
- LRMDA 2
- LZTFL1 2
- MAK 2
- MAN2B1 2
- MERTK 2
- MFN2 2
- MFSD8 2
- MIP 2
- MIR184 2
- MKKS 2
- MKS1 2
- MPLKIP 2
- MTTP 2
- MYH9 2
- MYO7A 2
- NDUFB11 2
- NF2 3
- NOTCH2 2
- NPHP1 2
- NPHP3 2
- NPHP4 2
- NR2E3 2
- NR2F1 2
- NRL 2
- NTF4 2
- NYX 2
- OAT 2
- OCA2 2
- OPA1 2
- OPA3 2
- OPTN 2
- P3H2 2
- PAX3 2
- PCDH15 2
- PDE6A 2
- PDE6B 2
- PDE6C 2
- PDE6G 2
- PDE6H 2
- PDZD7 2
- PEX10 2
- PEX11B 2
- PEX12 2
- PEX13 2
- PEX14 2
- PEX16 2
- PEX19 2
- PEX2 2
- PEX26 2
- PEX3 2
- PEX5 2
- PEX6 2
- PEX7 2
- PHYH 2
- PIKFYVE 2
- PITPNM3 2
- PLA2G5 2
- POLH 2
- POLR1C 2
- POLR1D 2
- PPT1 2
- PRCD 2
- PRDM5 2
- PROM1 2
- PRPF3 2
- PRPF31 2
- PRPF6 2
- PRPF8 2
- PRPH2 2
- RARA 2
- RAX2 2
- RBP3 2
- RD3 2
- RDH12 2
- RDH5 3
- RGR 2
- RGS9 2
- RGS9BP 2
- RHO 2
- RIMS1 2
- RLBP1 2
- ROM1 2
- RP1 2
- RP2 2
- RP9 2
- RPE65 2
- RPGR 2
- RPGRIP1 2
- RS1 2
- SAG 2
- SC5D 2
- SDCCAG8 2
- SEC23A 2
- SEMA3E 2
- SEMA4A 2
- SIL1 2
- SLC24A1 2
- SLC24A5 2
- SLC33A1 2
- SLC45A2 2
- SLC4A11 2
- SNRNP200 2
- SNX3 2
- SPATA13 1
- SPATA7 2
- SPINT2 2
- TACSTD2 2
- TBC1D23 2
- TBX22 2
- TCTN1 2
- TCTN2 2
- TCTN3 2
- TDRD7 2
- TGFBI 2
- TIMM8A 2
- TIMP3 2
- TMEM126A 2
- TMEM138 2
- TMEM231 2
- TOPORS 2
- TP53BP2 2
- TPP1 2
- TRIM32 2
- TRIM44 2
- TRPM1 2
- TSPAN12 2
- TTC21B 2
- TTC8 2
- TULP1 2
- TYR 2
- TYRP1 2
- UBIAD1 2
- UNC119 2
- USH1C 2
- USH1G 2
- USH2A 2
- VCAN 2
- VIM 2
- WDPCP 2
- WDR36 2
- WFS1 2
- WHRN 2
- WNT3 2
- WRAP73 3
- WRN 2
- WT1 2
- XPA 2
- XPC 2
- ZEB1 2
- ZNF408 2
- ZNF423 2
- ZNF513 2
- B3GALT1 1
STRs in panel
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Structural eye disease
Gene: LRMDA Red List (low evidence)
LRMDA (leucine rich melanocyte differentiation associated)
EnsemblGeneIds (GRCh38): ENSG00000148655
EnsemblGeneIds (GRCh37): ENSG00000148655
OMIM: 614537, Gene2Phenotype
LRMDA is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000148655
EnsemblGeneIds (GRCh37): ENSG00000148655
OMIM: 614537, Gene2Phenotype
LRMDA is in 6 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Red List (low evidence)
ocular albinism and nystagmus gene, no evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE VII; 615179
Created: 19 Jun 2019, 3:32 p.m.
Panel version: 0.76
Panel version: 0.76
Ivone Leong (Genomics England Curator)
Red List (low evidence)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). ocular albinism and nystagmus gene, no evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE VII; 615179
Created: 17 Apr 2019, 3:30 p.m.
Panel version: 0.47
Panel version: 0.47
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179
- Eye Disorders
- OMIM
- 614537
- Clinvar variants
- Variants in LRMDA
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Apr 2019, Gel status: 1
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to LRMDA. Mode of inheritance for gene LRMDA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179 for gene: LRMDA
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LRMDA was added gene: LRMDA was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: LRMDA was set to Phenotypes for gene: LRMDA were set to Eye Disorders