- Panels
- Skeletal dysplasia
- PSAT1
- ABCC9 1
- ABL1 2
- ACAN 1
- ACP5 1
- ACVR1 2
- ADAMTS10 1
- ADAMTS17 1
- ADAMTSL2 1
- AFF3 1
- AFF4 2
- AGA 1
- AGPS 1
- ALG12 1
- ALG3 1
- ALG9 1
- ALPL 3
- ALX1 1
- ALX3 1
- ALX4 1
- AMER1 1
- ANKH 1
- ANKRD11 1
- ANO5 1
- ANTXR2 1
- ARHGAP31 2
- ARID1A 2
- ARID1B 2
- ARL6 1
- ARSB 1
- ARSE 1
- ARSK 1
- ASXL1 1
- ASXL2 1
- ATP6V0A2 1
- ATP7A 3
- AXIN1 2
- B3GALT6 1
- B3GAT3 1
- B3GLCT 1
- B4GALT7 2
- BBS1 2
- BBS10 1
- BBS12 2
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BGN 1
- BHLHA9 1
- BMP1 1
- BMP2 1
- BMPER 1
- BMPR1B 2
- C21orf2 1
- C2CD3 2
- CA2 2
- CANT1 1
- CASR 1
- CBFB 1
- CC2D2A 2
- CCDC8 1
- CDC45 1
- CDH3 1
- CDKN1C 1
- CDT1 1
- CEP120 1
- CEP290 1
- CHST14 1
- CHST3 1
- CHSY1 1
- CLCN5 1
- CLCN7 1
- COG1 1
- COG4 2
- COL10A1 2
- COL11A1 1
- COL11A2 1
- COL1A1 1
- COL1A2 1
- COL27A1 2
- COL2A1 1
- COL9A1 1
- COL9A2 1
- COL9A3 3
- COLEC11 1
- COMP 1
- CREB3L1 1
- CREBBP 1
- CRTAP 1
- CSGALNACT1 1
- CSPP1 1
- CTSA 1
- CTSC 2
- CTSK 1
- CUL7 1
- CYP26B1 1
- CYP27B1 1
- CYP2R1 1
- DCC 3
- DDR2 1
- DDRGK1 2
- DHCR24 2
- DHCR7 4
- DHODH 2
- DIS3L2 1
- DLL3 1
- DLL4 1
- DLX3 1
- DLX5 1
- DMP1 1
- DNAJC21 1
- DNMT3A 2
- DOCK6 1
- DONSON 1
- DPAGT1 1
- DPM1 1
- DSPP 1
- DVL1 2
- DVL3 1
- DYM 1
- DYNC2H1 1
- DYNC2LI1 2
- EBP 2
- EED 1
- EFL1 1
- EFTUD2 2
- EIF2AK3 1
- EN1 1
- ENPP1 1
- EOGT 1
- ERF 1
- ERI1 2
- ESCO2 1
- EVC 3
- EVC2 2
- EXOC6B 1
- EXT1 1
- EXT2 1
- EXTL3 1
- EZH2 2
- FAM111A 1
- FAM20C 1
- FAM46A 1
- FAM58A 1
- FBN1 0
- FBN2 2
- FERMT3 1
- FGF10 1
- FGF16 1
- FGF23 1
- FGF9 2
- FGFR1 2
- FGFR2 1
- FGFR3 1
- FIG4 0
- FKBP10 1
- FLNA 1
- FLNB 2
- FN1 1
- FUCA1 1
- FUZ 1
- FZD2 1
- GALNS 1
- GALNT3 1
- GDF5 3
- GDF6 3
- GHR 1
- GINS3 1
- GJA1 1
- GLB1 1
- GLI3 3
- GNAS 1
- GNPAT 1
- GNPTAB 2
- GNPTG 1
- GNS 1
- GORAB 1
- GPC6 3
- GPX4 1
- GSC 1
- GUSB 1
- GZF1 1
- HDAC8 1
- HES7 1
- HGSNAT 2
- HHAT 2
- HOXA13 1
- HOXD13 1
- HPGD 1
- HSPG2 3
- ICK 1
- IDH1 1
- IDS 1
- IDUA 2
- IFIH1 3
- IFITM5 2
- IFT122 1
- IFT140 2
- IFT172 2
- IFT43 1
- IFT52 1
- IFT74 1
- IFT80 1
- IHH 1
- IKBKG 1
- IL11RA 1
- IL1RN 1
- IMPAD1 1
- INPPL1 2
- KAT6B 1
- KCNJ2 1
- KIAA0586 1
- KIAA0753 2
- KIF22 2
- KIF5B 2
- KIF7 1
- KMT2D 1
- LBR 2
- LEMD3 1
- LFNG 1
- LIFR 2
- LMBR1 1
- LMNA 0
- LMX1B 2
- LONP1 1
- LPIN2 1
- LRP4 2
- LRP5 1
- LRRK1 1
- LTBP3 1
- MAB21L2 1
- MAFB 2
- MAN2B1 1
- MAP3K7 1
- MASP1 1
- MATN3 1
- MBTPS1 1
- MECOM 2
- MEGF8 1
- MEOX1 2
- MESD 1
- MESP2 1
- MGP 2
- MIR140 2
- MIR17HG 1
- MKKS 3
- MKS1 1
- MMP13 1
- MMP2 1
- MMP9 1
- MNX1 1
- MPDU1 1
- MSX2 1
- MTX2 1
- MYCN 2
- NAGLU 2
- NANS 1
- NBAS 1
- NEK1 2
- NEPRO 3
- NEU1 1
- NF1 1
- NFIX 1
- NIPBL 1
- NKX3-2 1
- NLRP3 1
- NOG 1
- NOTCH1 2
- NOTCH2 1
- NPR2 1
- NSD1 1
- NSDHL 2
- OBSL1 1
- OFD1 2
- ORC1 1
- ORC4 1
- ORC6 1
- OSTM1 1
- P3H1 1
- P4HB 1
- PAM16 1
- PAPSS2 1
- PAX3 1
- PCNT 1
- PCYT1A 1
- PDE3A 1
- PDE4D 2
- PEX5 1
- PEX7 1
- PGM3 1
- PHEX 1
- PHF6 1
- PHGDH 1
- PIGT 1
- PIGV 1
- PIK3C2A 2
- PIK3R1 2
- PISD 2
- PITX1 1
- PKDCC 3
- PLOD2 1
- PLS3 1
- POC1A 1
- POLR1A 2
- POLR1B 2
- POLR1C 1
- POLR1D 1
- POP1 1
- POR 2
- PPIB 1
- PRKAR1A 1
- PRKG2 2
- PRMT7 1
- PSAT1 2
- PSPH 1
- PTDSS1 1
- PTH1R 1
- PTHLH 1
- PTPN11 1
- PUF60 1
- PYCR1 3
- RAB23 1
- RAB33B 1
- RAB34 1
- RAB3GAP2 1
- RASGRP2 1
- RBM8A 1
- RBPJ 1
- RECQL4 1
- RFT1 1
- RIPPLY2 1
- RMRP 2
- RNU4ATAC 2
- ROR2 1
- RPGRIP1L 1
- RPL13 1
- RUNX2 1
- SALL1 1
- SALL4 2
- SBDS 1
- SCARF2 1
- SCUBE3 1
- SEC24D 1
- SEMA3A 2
- SERPINF1 1
- SERPINH1 1
- SETD2 2
- SF3B4 1
- SFRP4 2
- SGSH 1
- SH3BP2 2
- SH3PXD2B 1
- SHOX 1
- SKI 2
- SLC10A7 1
- SLC17A5 2
- SLC26A2 1
- SLC29A3 1
- SLC34A1 1
- SLC34A3 1
- SLC35C1 1
- SLC35D1 2
- SLC39A13 1
- SLCO2A1 1
- SMAD3 0
- SMAD4 1
- SMAD6 2
- SMARCAL1 1
- SMARCB1 1
- SMARCE1 1
- SMC1A 2
- SMC3 1
- SMOC1 1
- SNRPB 1
- SNX10 1
- SOST 1
- SOX11 2
- SOX9 1
- SP7 1
- SPARC 1
- SRP54 1
- STT3A 1
- SUMF1 1
- TAB2 1
- TALDO1 1
- TBCE 1
- TBX15 1
- TBX3 1
- TBX4 1
- TBX5 2
- TBX6 4
- TBXAS1 1
- TCIRG1 1
- TCOF1 1
- TCTEX1D2 1
- TCTN2 1
- TCTN3 1
- TERT 1
- TGFB1 1
- TGFB2 1
- TGFBR2 0
- TMCO1 1
- TMEM165 1
- TMEM216 1
- TMEM231 1
- TMEM38B 1
- TMEM53 1
- TNFRSF11A 1
- TNFRSF11B 1
- TNFSF11 1
- TONSL 2
- TP63 1
- TRAPPC2 1
- TREM2 1
- TRIP11 1
- TRPS1 1
- TRPV4 1
- TRPV6 1
- TTC21B 3
- TTC8 1
- TWIST1 1
- TYROBP 2
- UBA2 3
- UFSP2 2
- USP9X 1
- VDR 1
- WDPCP 1
- WDR19 1
- WDR34 1
- WDR35 2
- WDR60 1
- WISP3 1
- WNT1 1
- WNT10B 1
- WNT5A 1
- WNT7A 2
- XRCC4 2
- XYLT1 1
- XYLT2 1
- YY1 1
- ZMPSTE24 1
- ZSWIM6 2
- B9D1 3
- BNIP1 1
- CHST11 1
- CTGF 2
- FAM20B 1
- FGF8 2
- GNPNAT1 3
- HDAC4 3
- HNRNPK 2
- HYLS1 3
- IFT81 1
- MANBA 1
- MIA3 1
- MTAP 1
- RAD21 3
- RSPRY1 1
- SIK3 1
- SLC13A1 3
- TAPT1 3
- TMEM251 2
- ACVR2B 2
- ADGRV1 1
- ADI1 1
- AHI1 2
- AKT1 3
- ARL13B 1
- ATXN10 0
- B9D2 1
- BANF1 1
- BMP5 2
- C5orf42 1
- CCDC28B 3
- CCDC39 1
- CCDC40 1
- CD96 1
- CDC6 1
- CDH23 1
- CEP164 1
- CEP41 1
- CFTR 1
- CKAP2L 1
- CLRN1 1
- COL12A1 1
- COL5A1 1
- COLEC10 1
- CRB1 1
- CRELD1 2
- CRX 1
- DACT1 1
- DDX41 1
- DLX6 0
- DNAAF1 1
- DNAAF2 1
- DNAAF3 1
- DNAH11 2
- DNAH5 1
- DNAI1 1
- DNAI2 1
- DNAL1 1
- DOLPP1 0
- DPM2 1
- DPM3 1
- EP300 1
- ESR1 1
- ETF1 1
- FBLIM1 0
- FBLN1 2
- FBXW4 1
- FMN1 1
- FOXC1 2
- FOXH1 1
- GDF1 2
- GDF3 1
- GLIS2 1
- GREM1 1
- GUCY2D 1
- HDAC5 0
- HOXA11 1
- HOXD11 0
- IDH2 1
- IFT88 0
- INVS 1
- IQCB1 1
- LAMA5 2
- LCA5 1
- LEFTY2 2
- LOXL3 1
- LRAT 1
- LRP6 2
- LTBP2 1
- MAN2C1 2
- MCM5 1
- MMP14 0
- MYO7A 1
- NEK8 1
- NEK9 1
- NFATC2 1
- NIN 1
- NKX2-5 2
- NME8 1
- NODAL 2
- NPHP1 1
- NPHP3 2
- NPHP4 1
- NPPC 1
- OAT 1
- PCDH15 1
- PIK3CA 1
- PIN1 0
- PIR 0
- PKD2 1
- PKHD1 1
- PLCB3 1
- PLEKHM1 1
- PLOD1 1
- PTPRQ 1
- RD3 1
- RDH12 1
- RPE65 1
- RPGR 1
- RPGRIP1 2
- RSPH4A 1
- RSPH9 1
- SCNN1A 1
- SCNN1B 1
- SCNN1G 2
- SDCCAG8 1
- SEM1 0
- SHH 2
- SLCO5A1 0
- SOX8 1
- SPECC1L 1
- TCTN1 1
- TDP2 1
- TGDS 1
- THPO 1
- TMEM138 1
- TMEM237 1
- TMEM67 1
- TNXB 1
- TOPORS 2
- TRIM32 2
- TRMT10A 1
- TSC1 0
- TSC2 0
- TULP1 2
- UMOD 3
- USH1C 1
- USH1G 1
- USH2A 1
- VAC14 1
- VHL 0
- WHRN 1
- WNT3 1
- WRN 1
- XPNPEP3 1
- ZBTB16 1
- ZIC3 2
- ZNF423 2
-
2q37.3 terminal region (includes HDAC4) Loss
ISCA-37394-Loss 0 -
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss 0 -
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37418-Loss 0 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 0 -
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss 0 -
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-37501-Loss 0
Skeletal dysplasia
Gene: PSAT1 Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000135069
EnsemblGeneIds (GRCh37): ENSG00000135069
OMIM: 610936, Gene2Phenotype
PSAT1 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Green List (high evidence)
Severity of disease correlates with residual enzyme activity. Multiple families reported.
Sources: Expert listCreated: 7 Feb 2021, 2:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038
Publications
Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.274
Elena Savva (Victorian Clinical Genetics Services)
Green List (high evidence)
Severity of disease correlates with residual enzyme activity (PMID: 32077105, OMIM)Created: 4 Aug 2020, 5:52 a.m. | Last Modified: 4 Aug 2020, 5:52 a.m.
Panel Version: 0.3684
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Publications
- PMID: 32077105
Last Modified: 4 Aug 2020, 5:52 a.m.
Panel version: Imported from Mendeliome panel version 0.3684
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Expert Review Green
- Expert list
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Neu-Laxova syndrome 2 616038
- OMIM
- 610936
- Clinvar variants
- Variants in PSAT1
- Penetrance
- None
- Panels with this gene
-
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PSAT1 was added gene: PSAT1 was added to Skeletal dysplasia. Sources: NHS GMS,Expert list,Expert Review Green Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038