- Panels
- Newborns main panel
- LPIN1
Genes in panel
- AAAS 1
- ABCB11 1
- ABCB4 1
- ABCC6 1
- ABCC8 2
- ABCD1 1
- ABCD4 1
- ACAD9 1
- ACADM 1
- ACADVL 2
- ACAT1 1
- ACOX2 1
- ADA 2
- ADA2 1
- ADAMTS13 1
- AGL 1
- AGPAT2 1
- AGRN 2
- AGXT 1
- AICDA 1
- AIRE 1
- AK2 1
- AKR1D1 1
- ALDH7A1 1
- ALDOB 1
- ALG14 2
- ALG2 2
- ALPK1 1
- ALPL 2
- AMACR 1
- AMH 1
- AMHR2 1
- AMN 1
- ANOS1 1
- AP3B1 1
- AP3D1 1
- APOA5 1
- APOB 2
- APOC2 1
- APRT 1
- AQP2 2
- ARG1 1
- ARMC4 1
- ARPC1B 1
- ARSA 2
- ARSB 1
- ASL 2
- ASS1 1
- ATP6V0A4 1
- ATP6V1B1 1
- ATP7B 1
- ATP8B1 1
- AVP 2
- AVPR2 1
- BAAT 1
- BCKDHA 1
- BCKDHB 1
- BCKDK 1
- BLNK 1
- BMP1 1
- BSCL2 1
- BTD 2
- BTK 1
- C11orf70 1
- C17orf62 1
- C2 1
- C21orf59 1
- C3 2
- C5 1
- C6 1
- C7 1
- C8A 1
- C8B 1
- C9 1
- CA2 1
- CA5A 1
- CAD 1
- CASR 2
- CAV1 1
- CAVIN1 1
- CBS 1
- CCBE1 1
- CCDC103 2
- CCDC114 1
- CCDC151 1
- CCDC39 1
- CCDC40 1
- CCDC65 2
- CCNO 1
- CD247 1
- CD3D 1
- CD3E 1
- CD3G 1
- CD40 1
- CD40LG 1
- CD70 1
- CD79A 1
- CD79B 1
- CDCA7 1
- CDKN1C 2
- CEBPE 1
- CFD 1
- CFH 2
- CFI 1
- CFP 1
- CFTR 2
- CHAT 2
- CHRNA1 2
- CHRNB1 2
- CHRND 2
- CHRNE 2
- CIITA 1
- CLCN7 2
- CLPB 1
- COL13A1 2
- COL1A1 2
- COL1A2 2
- COL4A3 2
- COL4A4 2
- COL4A5 2
- COLQ 2
- COQ2 1
- COQ4 2
- COQ5 1
- COQ6 1
- COQ7 1
- COQ8A 1
- COQ8B 1
- COQ9 1
- CORO1A 1
- CPS1 1
- CPT1A 1
- CPT2 2
- CSF3R 1
- CTNS 2
- CTPS1 2
- CUBN 1
- CUL3 2
- CXCR4 1
- CYBA 1
- CYBB 1
- CYP11A1 2
- CYP11B1 2
- CYP11B2 1
- CYP17A1 2
- CYP24A1 1
- CYP27A1 1
- CYP27B1 1
- CYP2R1 1
- CYP7B1 2
- DBT 1
- DCLRE1C 2
- DDB2 1
- DDC 1
- DGAT1 1
- DHFR 1
- DMP1 1
- DNAAF1 1
- DNAAF2 1
- DNAAF3 1
- DNAAF4 1
- DNAAF5 1
- DNAH11 1
- DNAH5 1
- DNAH9 1
- DNAI1 1
- DNAI2 1
- DNAJC12 1
- DNAJC21 1
- DNAL1 1
- DNMT3B 1
- DOCK2 1
- DOCK8 1
- DOK7 2
- DPAGT1 2
- DRC1 1
- DUOX2 1
- DUOXA2 1
- EDA 2
- EDAR 2
- EDARADD 2
- EFL1 1
- EIF2AK3 1
- ELANE 1
- ENPP1 1
- ERCC2 2
- ERCC3 1
- ERCC5 1
- ETFA 1
- ETFB 1
- ETFDH 1
- F10 1
- F13A1 1
- F13B 1
- F2 1
- F5 1
- F7 2
- F8 2
- F9 2
- FAH 1
- FAM111A 1
- FBP1 1
- FCHO1 1
- FECH 2
- FERMT3 1
- FGA 1
- FGB 1
- FGF23 2
- FGG 1
- FKBP10 1
- FLAD1 1
- FOLR1 1
- FOXE1 1
- FOXJ1 1
- FOXN1 2
- FOXP3 1
- G6PC 1
- G6PC3 1
- GAA 2
- GALE 1
- GALK1 1
- GALNS 1
- GALNT3 1
- GALT 1
- GAMT 2
- GAS8 2
- GATA3 1
- GATM 2
- GCDH 1
- GCK 2
- GCM2 1
- GFI1 1
- GFPT1 2
- GH1 2
- GHR 1
- GHRHR 1
- GIF 1
- GLIS3 1
- GLUD1 1
- GNRH1 1
- GP1BA 2
- GP1BB 2
- GP9 2
- GPIHBP1 1
- GPR101 2
- GRHPR 1
- GUSB 1
- HADH 1
- HADHA 1
- HADHB 1
- HAX1 1
- HBB 2
- HELLS 1
- HESX1 1
- HK1 2
- HLCS 1
- HMGCL 1
- HMGCS2 1
- HOGA1 1
- HSD11B2 1
- HSD3B2 2
- HSD3B7 1
- HYDIN 1
- IDS 1
- IDUA 2
- IFITM5 2
- IFNGR1 2
- IFNGR2 1
- IGF1 1
- IGHM 1
- IGLL1 1
- IGSF1 1
- IKBKB 1
- IL10 1
- IL10RA 1
- IL10RB 1
- IL12B 1
- IL12RB1 1
- IL2RA 1
- IL2RB 1
- IL2RG 2
- IL7R 2
- INS 2
- IRAK4 1
- IRF8 1
- IRS4 1
- ITCH 1
- ITGA2B 2
- ITGB2 1
- ITGB3 2
- ITK 1
- IVD 1
- IYD 1
- JAGN1 1
- JAK3 2
- KCNJ1 1
- KCNJ11 2
- KDELR2 1
- KISS1R 1
- KLHL3 2
- LAT 1
- LCK 1
- LCT 1
- LDLR 2
- LDLRAP1 1
- LEP 1
- LEPR 2
- LHX3 1
- LIG1 1
- LIG4 1
- LIPA 2
- LMBRD1 1
- LMF1 1
- LPIN1 1
- LPL 1
- LRP5 2
- LRRC56 1
- LRRC6 1
- LYST 1
- MAGT1 2
- MAN2B1 1
- MC2R 1
- MCEE 1
- MCIDAS 1
- MCM4 2
- MESD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 2
- MPI 1
- MPL 1
- MRAP 1
- MSN 1
- MTHFD1 1
- MTHFR 1
- MTR 1
- MTRR 1
- MTTP 1
- MUSK 2
- MUT 1
- MYD88 1
- MYSM1 1
- NAGS 2
- NBN 1
- NCF2 1
- NCF4 1
- NEUROD1 1
- NEUROG3 1
- NFKBIA 1
- NHEJ1 1
- NLRP3 2
- NNT 1
- NR0B1 2
- NR3C2 1
- NR5A1 2
- OAS1 1
- OAT 1
- OTC 2
- OTOF 2
- OXCT1 1
- PAH 2
- PAX1 1
- PAX8 1
- PCCA 1
- PCCB 1
- PCK1 1
- PCSK1 1
- PDHA1 1
- PDSS1 1
- PDSS2 1
- PGM1 1
- PHEX 2
- PHKA2 1
- PHKG2 1
- PIH1D3 2
- PIK3R1 1
- PKLR 1
- PLOD2 1
- PLPBP 1
- PLS3 2
- PNP 1
- PNPO 1
- POLA1 1
- POLE 2
- POLH 1
- POMC 1
- POR 2
- POU1F1 2
- PPOX 1
- PREPL 2
- PRF1 1
- PRKDC 1
- PROK2 1
- PROP1 1
- PSTPIP1 1
- PTF1A 1
- PTH 1
- PTPRC 1
- PTS 1
- PYGL 1
- QDPR 1
- RAB27A 1
- RAG1 2
- RAG2 2
- RAPSN 2
- RASGRP1 1
- RB1 1
- REST 1
- RET 3
- RFX5 1
- RFXANK 1
- RFXAP 1
- RNPC3 1
- RPE65 2
- RPL11 1
- RPL15 1
- RPL26 1
- RPL35A 1
- RPL5 1
- RPS10 1
- RPS17 1
- RPS19 1
- RPS24 1
- RPS26 1
- RPS29 1
- RPS7 1
- RPSA 1
- RSPH1 1
- RSPH3 1
- RSPH4A 1
- RSPH9 1
- SAMD9 2
- SAR1B 1
- SBDS 2
- SCN4A 2
- SCNN1A 1
- SCNN1B 1
- SCNN1G 1
- SERPINF1 1
- SERPINH1 1
- SGPL1 1
- SH2D1A 1
- SI 1
- SKIV2L 2
- SLC12A1 1
- SLC18A3 2
- SLC19A1 1
- SLC19A2 1
- SLC19A3 2
- SLC22A5 1
- SLC25A1 2
- SLC25A13 1
- SLC25A15 1
- SLC25A20 1
- SLC26A7 2
- SLC2A1 2
- SLC30A10 1
- SLC34A1 1
- SLC34A3 1
- SLC37A4 1
- SLC39A4 1
- SLC39A7 1
- SLC46A1 1
- SLC4A1 2
- SLC52A2 1
- SLC52A3 1
- SLC5A1 1
- SLC5A5 1
- SLC5A7 2
- SLC7A7 1
- SMARCD2 1
- SMN1 2
- SNX10 1
- SP110 1
- SPAG1 1
- SPARC 1
- SPPL2A 1
- SRP54 1
- STAR 2
- STAT1 1
- STAT2 1
- STAT3 1
- STAT5B 1
- STK4 1
- STX11 1
- STXBP2 1
- SYT2 2
- TACR3 1
- TAP1 1
- TAP2 1
- TAPBP 1
- TAT 1
- TAZ 1
- TBL1X 1
- TBX19 1
- TCF3 2
- TCIRG1 1
- TCN2 1
- TF 1
- TFRC 1
- TG 1
- TH 1
- THRA 1
- THRB 2
- TJP2 1
- TLR3 1
- TMEM38B 1
- TNFRSF11A 1
- TNFRSF11B 1
- TPK1 1
- TPO 1
- TRAC 1
- TRHR 1
- TRIM28 1
- TRPM6 1
- TSHB 1
- TSHR 1
- TTC25 1
- TTC37 2
- TTC7A 1
- TTPA 1
- UGT1A1 1
- UMPS 1
- UNC13D 1
- UNG 1
- UROD 1
- UROS 1
- USB1 1
- USP53 1
- VAMP1 2
- VDR 2
- VPS45 1
- WAS 1
- WNK1 2
- WNT1 1
- WT1 2
- XIAP 1
- XPA 1
- XPC 1
- ZAP70 1
- ZBTB24 1
- ZFYVE19 1
- ZMYND10 1
- ZNFX1 1
- ABCC9 1
- ABCG5 1
- ABCG8 1
- ACVR1 1
- ADAR 1
- AHCY 1
- AKT2 1
- ALAD 1
- ALAS2 1
- ALDH4A1 1
- ALK 1
- APOE 1
- APPL1 1
- ARMC5 1
- ATP7A 1
- BCL10 1
- BRCA1 1
- BRCA2 1
- BRIP1 1
- BSND 1
- C1QA 1
- C1QB 1
- C1QC 1
- CA12 1
- CACNA1A 1
- CACNA1C 1
- CACNA1D 1
- CACNA1H 1
- CACNA1S 1
- CALM1 1
- CALM2 1
- CALM3 1
- CARD11 1
- CARD14 1
- CASQ2 2
- CD19 1
- CD27 1
- CD320 1
- CD46 1
- CD55 1
- CD81 1
- CEL 1
- CFB 2
- CFHR1 1
- CLCN1 1
- CLCN2 1
- CLCNKB 1
- COPA 1
- CP 1
- CPOX 1
- CR2 1
- CTLA4 1
- CYB561 1
- CYP21A2 3
- DBH 1
- DGKE 1
- DICER1 1
- DIS3L2 1
- DMD 1
- DNASE2 1
- ECHS1 1
- EIF2S3 1
- ELF4 1
- EPCAM 2
- ERCC4 1
- ERCC6L2 1
- F11 1
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FANCL 1
- FARS2 1
- FGFR3 1
- FOXA2 1
- FOXI1 1
- FUCA1 1
- FXN 1
- FXYD2 1
- G6PD 1
- GALC 1
- GALM 1
- GATA1 1
- GATA2 1
- GATA4 1
- GATA6 1
- GBA 2
- GCH1 1
- GGCX 1
- GLA 1
- GLRA1 1
- GLRB 1
- GLRX5 1
- GNAS 1
- GNE 1
- GOT2 1
- GRIN2A 1
- GYS2 1
- HAMP 1
- HAVCR2 1
- HBA1 1
- HBA2 2
- HCFC1 1
- HFE2 1
- HGD 1
- HIBCH 1
- HMBS 1
- HNF1A 1
- HNF1B 1
- HOXA11 1
- HSCB 1
- HSPA9 1
- IARS 1
- ICOS 1
- IER3IP1 1
- IFIH1 1
- IGFALS 1
- IKBKG 2
- IKZF1 1
- IL1RN 1
- IL21 1
- IL21R 1
- IL36RN 1
- INSR 1
- IRF2BP2 1
- JAK1 1
- KCNA1 1
- KCNE1 1
- KCNH2 2
- KCNJ2 1
- KCNJ5 1
- KCNJ8 1
- KCNQ1 2
- KCNQ2 3
- KCNT1 2
- KDM1A 1
- KDSR 1
- LAMTOR2 1
- LARS 1
- LHX4 1
- LMAN1 1
- LMNA 1
- LPIN2 1
- LRBA 1
- LRP4 1
- LSM11 1
- MAD2L2 1
- MAGED2 2
- MALT1 1
- MAP3K14 1
- MARS 1
- MCCC1 1
- MCCC2 1
- MCFD2 1
- MECOM 1
- MEFV 2
- MLH1 1
- MLYCD 1
- MNX1 1
- MOCS1 1
- MS4A1 1
- MSH2 1
- MSH6 1
- MTHFS 1
- MVK 2
- MYO9A 1
- NAGLU 1
- NAXD 1
- NAXE 1
- NCF1 2
- NFKB1 1
- NFKB2 1
- NIPAL4 1
- NKX2-1 1
- NKX2-2 1
- NLRC4 1
- NLRP12 1
- NOD2 1
- NPC1 1
- NPC2 1
- ORAI1 1
- OTULIN 2
- PALB2 1
- PAPPA2 1
- PCSK9 1
- PDGFRB 1
- PDX1 1
- PGM3 1
- PHGDH 1
- PHKA1 1
- PHKB 1
- PHOX2B 1
- PIK3CA 2
- PIK3CD 1
- PLCG2 1
- PLG 2
- PMM2 1
- PMS2 1
- POMP 1
- PRDX1 1
- PRKCD 1
- PROKR2 1
- PRPS1 1
- PRRT2 1
- PSAP 1
- PSAT1 1
- PSMB10 1
- PSMB4 1
- PSMB8 1
- PSMB9 1
- PSMG2 1
- PSPH 1
- RAC2 1
- RAD51 1
- RAD51C 1
- REL 1
- RELA 1
- RELB 1
- RFWD3 1
- RFX6 1
- RMRP 1
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNU7-1 1
- RPL18 1
- RPL27 1
- RPL31 2
- RPL35 1
- RPS15A 1
- RPS27 1
- RPS28 1
- RPS9 1
- RYR2 1
- SAMD9L 2
- SAMHD1 1
- SARS 1
- SCN1A 3
- SCN2A 3
- SCN3A 1
- SCN5A 2
- SCN8A 3
- SERPINA1 1
- SERPING1 2
- SFTPC 1
- SLC13A5 1
- SLC16A1 1
- SLC16A2 1
- SLC18A2 1
- SLC1A3 1
- SLC25A38 1
- SLC26A3 2
- SLC26A4 1
- SLC2A2 1
- SLC35A2 1
- SLC35C1 1
- SLC39A14 1
- SLC39A8 1
- SLC40A1 1
- SLC4A4 1
- SLC5A6 1
- SLC6A5 1
- SLC6A6 1
- SLC6A8 1
- SLC9A3 2
- SLX4 1
- SMARCA4 1
- SMARCB1 1
- SMPD1 1
- SNAP25 1
- SORD 1
- SOX3 1
- SPINT2 2
- SPR 1
- SPTLC1 1
- SPTLC2 1
- STIM1 1
- STX16 1
- TECRL 2
- TFR2 1
- THAP11 1
- THBD 1
- TK2 1
- TMEM165 1
- TNFAIP3 1
- TNFRSF13C 1
- TNFRSF1A 2
- TOP2B 1
- TP53 1
- TPP1 2
- TRDN 2
- TREX1 1
- TRMU 1
- TRNT1 1
- TSC1 1
- TSC2 1
- TSR2 1
- TTR 1
- TXNRD2 1
- UBE2T 1
- USP18 1
- VKORC1 1
- WDR1 1
- WIPF1 1
- WNK4 1
- XRCC2 1
- ZFP57 1
- ZNF143 1
- AP2S1 1
- APC 1
- BMPR1A 1
- CHD7 1
- GNA11 1
- HFE 1
- HNF4A 1
- KL 1
- KLF11 1
- MUTYH 1
- NF1 1
- PKD1 1
- PKD2 1
- SCARB2 1
- SLC12A3 1
- SLC30A2 1
- SMAD4 1
- TNFRSF13B 1
- UCP2 1
- WDR72 1
- WFS1 1
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This Panel is marked as Internal
Newborns main panel
Gene: LPIN1 Green List (high evidence)
LPIN1 (lipin 1)
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000134324
EnsemblGeneIds (GRCh37): ENSG00000134324
OMIM: 605518, Gene2Phenotype
LPIN1 is in 8 panels
1 review
Arina Puzriakova (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF)Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
https://search.clinicalgenome.org/kb/genes/HGNC:13345Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Myoglobinuria, acute recurrent
- OMIM
- 605518
- Clinvar variants
- Variants in LPIN1
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Hyperammonaemia
- Arthrogryposis
- Acute rhabdomyolysis
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
31 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: LPIN1 was added gene: LPIN1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent