PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Prepair 1000+ v2.7 GPR143 Zornitza Stark Tag for review tag was added to gene: GPR143.
Prepair 1000+ v2.7 ZNF469 Zornitza Stark Tag for review tag was added to gene: ZNF469.
Prepair 1000+ v2.7 TRAPPC12 Zornitza Stark Tag for review tag was added to gene: TRAPPC12.
Prepair 1000+ v2.7 PUS7 Zornitza Stark Tag for review tag was added to gene: PUS7.
Prepair 1000+ v2.7 PTPN23 Zornitza Stark Tag for review tag was added to gene: PTPN23.
Prepair 1000+ v2.7 RARB Zornitza Stark Marked gene: RARB as ready
Prepair 1000+ v2.7 RARB Zornitza Stark Gene: rarb has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v2.7 RARB Zornitza Stark Phenotypes for gene: RARB were changed from Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive to Microphthalmia, syndromic 12 MIM#615524
Prepair 1000+ v2.6 RARB Zornitza Stark Publications for gene: RARB were set to
Prepair 1000+ v2.5 TMEM94 Zornitza Stark Marked gene: TMEM94 as ready
Prepair 1000+ v2.5 TMEM94 Zornitza Stark Gene: tmem94 has been classified as Green List (High Evidence).
Prepair 1000+ v2.5 TMEM94 Zornitza Stark Publications for gene: TMEM94 were set to 30526868
Prepair 1000+ v2.4 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Prepair 1000+ v2.4 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Prepair 1000+ v2.4 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from Raine syndrome, 259775 (3) to Raine syndrome MIM#259775
Prepair 1000+ v2.3 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Prepair 1000+ v2.2 EIF2B3 Zornitza Stark Marked gene: EIF2B3 as ready
Prepair 1000+ v2.2 EIF2B3 Zornitza Stark Gene: eif2b3 has been classified as Green List (High Evidence).
Prepair 1000+ v2.2 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313
Prepair 1000+ v2.1 EIF2B3 Zornitza Stark Publications for gene: EIF2B3 were set to
Prepair 1000+ v2.0 CLN8 Zornitza Stark Marked gene: CLN8 as ready
Prepair 1000+ v2.0 CLN8 Zornitza Stark Gene: cln8 has been classified as Green List (High Evidence).
Prepair 1000+ v2.0 CLN8 Zornitza Stark reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v2.0 Zornitza Stark promoted panel to version 2.0
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Marked gene: SCN1B as ready
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Classified gene: SCN1B as Green List (high evidence)
Prepair 1000+ v1.2159 SCN1B Zornitza Stark Gene: scn1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2158 POLR1D Zornitza Stark Marked gene: POLR1D as ready
Prepair 1000+ v1.2158 POLR1D Zornitza Stark Gene: polr1d has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2158 POLR1D Zornitza Stark Mode of inheritance for gene: POLR1D was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2157 POLR1D Zornitza Stark Classified gene: POLR1D as Red List (low evidence)
Prepair 1000+ v1.2157 POLR1D Zornitza Stark Gene: polr1d has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2156 POLR1D Zornitza Stark reviewed gene: POLR1D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 2 MIM#613717; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2156 POLE Zornitza Stark Marked gene: POLE as ready
Prepair 1000+ v1.2156 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Prepair 1000+ v1.2156 POLE Zornitza Stark Classified gene: POLE as Green List (high evidence)
Prepair 1000+ v1.2156 POLE Zornitza Stark Gene: pole has been classified as Green List (High Evidence).
Prepair 1000+ v1.2155 OXCT1 Zornitza Stark Classified gene: OXCT1 as Green List (high evidence)
Prepair 1000+ v1.2155 OXCT1 Zornitza Stark Gene: oxct1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2154 HPDL Zornitza Stark Marked gene: HPDL as ready
Prepair 1000+ v1.2154 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Prepair 1000+ v1.2154 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Spastic paraplegia 83, autosomal recessive MIM#619027; Leigh syndrome MONDO:0009723
Prepair 1000+ v1.2153 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Prepair 1000+ v1.2153 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Prepair 1000+ v1.2152 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
Prepair 1000+ v1.2152 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Prepair 1000+ v1.2151 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from to Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510
Prepair 1000+ v1.2150 DBR1 Zornitza Stark Publications for gene: DBR1 were set to
Prepair 1000+ v1.2149 DBR1 Zornitza Stark Classified gene: DBR1 as Green List (high evidence)
Prepair 1000+ v1.2149 DBR1 Zornitza Stark Gene: dbr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2148 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from Fanconi Anaemia to Fanconi Anaemia, complementation group J, MIM# 609054
Prepair 1000+ v1.2147 BRIP1 Zornitza Stark Classified gene: BRIP1 as Red List (low evidence)
Prepair 1000+ v1.2147 BRIP1 Zornitza Stark Gene: brip1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2146 BRIP1 Zornitza Stark edited their review of gene: BRIP1: Added comment: Consider for inclusion in V3 together with all FA genes.; Changed rating: RED; Changed phenotypes: Fanconi Anaemia, complementation group J, MIM# 609054; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2146 MBTPS1 Zornitza Stark Tag for review was removed from gene: MBTPS1.
Prepair 1000+ v1.2146 ITGA3 Seb Lunke Tag for review was removed from gene: ITGA3.
Prepair 1000+ v1.2146 IGHM Seb Lunke Tag for review was removed from gene: IGHM.
Prepair 1000+ v1.2146 ERBB3 Seb Lunke Tag for review was removed from gene: ERBB3.
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Tag review was removed from gene: TSPYL1.
Prepair 1000+ v1.2146 TTN Seb Lunke Tag for review was removed from gene: TTN.
Prepair 1000+ v1.2146 CERKL Seb Lunke Tag for review was removed from gene: CERKL.
Prepair 1000+ v1.2146 CLN3 Seb Lunke Tag for review was removed from gene: CLN3.
Prepair 1000+ v1.2146 LRSAM1 Seb Lunke Tag for review was removed from gene: LRSAM1.
Prepair 1000+ v1.2146 NCF1 Seb Lunke Tag for review was removed from gene: NCF1.
Prepair 1000+ v1.2146 RARB Seb Lunke Tag for review was removed from gene: RARB.
Prepair 1000+ v1.2146 SLC9A3 Seb Lunke Tag for review was removed from gene: SLC9A3.
Prepair 1000+ v1.2146 FYCO1 Zornitza Stark Tag review was removed from gene: FYCO1.
Prepair 1000+ v1.2146 PRICKLE1 Seb Lunke Tag for review was removed from gene: PRICKLE1.
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Classified gene: TSPYL1 as Green List (high evidence)
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Added comment: Comment on list classification: Assessed, meets conditions as additional non-founder variants identified
Prepair 1000+ v1.2146 TSPYL1 Seb Lunke Gene: tspyl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2145 B9D1 Zornitza Stark Tag for review was removed from gene: B9D1.
Prepair 1000+ v1.2145 ADPRHL2 Zornitza Stark Tag for review was removed from gene: ADPRHL2.
Prepair 1000+ v1.2145 ACY1 Zornitza Stark Tag for review was removed from gene: ACY1.
Prepair 1000+ v1.2145 PEX19 Lilian Downie Classified gene: PEX19 as Green List (high evidence)
Prepair 1000+ v1.2145 PEX19 Lilian Downie Gene: pex19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2145 SCO1 Seb Lunke Classified gene: SCO1 as Green List (high evidence)
Prepair 1000+ v1.2145 SCO1 Seb Lunke Gene: sco1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Marked gene: PIEZO1 as ready
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2144 SCO1 Seb Lunke Tag for review was removed from gene: SCO1.
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Classified gene: PIEZO1 as Green List (high evidence)
Prepair 1000+ v1.2144 PIEZO1 Zornitza Stark Gene: piezo1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2143 PIEZO1 Zornitza Stark Tag for review was removed from gene: PIEZO1.
Prepair 1000+ v1.2143 PDHX Zornitza Stark Classified gene: PDHX as Green List (high evidence)
Prepair 1000+ v1.2143 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Prepair 1000+ v1.2143 OTULIN Seb Lunke Classified gene: OTULIN as Green List (high evidence)
Prepair 1000+ v1.2143 OTULIN Seb Lunke Gene: otulin has been classified as Green List (High Evidence).
Prepair 1000+ v1.2142 PDHX Zornitza Stark Tag for review was removed from gene: PDHX.
Prepair 1000+ v1.2142 OTULIN Seb Lunke Tag for review was removed from gene: OTULIN.
Prepair 1000+ v1.2142 MTPAP Zornitza Stark Classified gene: MTPAP as Green List (high evidence)
Prepair 1000+ v1.2142 MTPAP Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence).
Prepair 1000+ v1.2142 CHMP1A Lilian Downie Classified gene: CHMP1A as Green List (high evidence)
Prepair 1000+ v1.2142 CHMP1A Lilian Downie Gene: chmp1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.2141 MTPAP Zornitza Stark Tag for review was removed from gene: MTPAP.
Prepair 1000+ v1.2141 CHMP1A Lilian Downie Tag for review was removed from gene: CHMP1A.
Prepair 1000+ v1.2141 APC2 Seb Lunke Classified gene: APC2 as Green List (high evidence)
Prepair 1000+ v1.2141 APC2 Seb Lunke Gene: apc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2140 APC2 Seb Lunke Tag for review was removed from gene: APC2.
Prepair 1000+ v1.2140 AMN Zornitza Stark Marked gene: AMN as ready
Prepair 1000+ v1.2140 AMN Zornitza Stark Added comment: Comment when marking as ready: Treatable, relatively mild disorder, not suitable for inclusion on a reproductive carrier screen.
Prepair 1000+ v1.2140 AMN Zornitza Stark Gene: amn has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2140 AMN Zornitza Stark Classified gene: AMN as Red List (low evidence)
Prepair 1000+ v1.2140 AMN Zornitza Stark Gene: amn has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2139 AMN Zornitza Stark Tag for review was removed from gene: AMN.
Prepair 1000+ v1.2139 AGTR1 Zornitza Stark Classified gene: AGTR1 as Green List (high evidence)
Prepair 1000+ v1.2139 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2138 YIF1B Seb Lunke Tag for review was removed from gene: YIF1B.
Prepair 1000+ v1.2138 YIF1B Seb Lunke Classified gene: YIF1B as Green List (high evidence)
Prepair 1000+ v1.2138 YIF1B Seb Lunke Gene: yif1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2137 AGTR1 Zornitza Stark Tag for review was removed from gene: AGTR1.
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Marked gene: UQCRC2 as ready
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Added comment: Comment when marking as ready: Borderline gene-disease association, keep Amber in the screening context.
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2137 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to
Prepair 1000+ v1.2136 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Amber List (moderate evidence)
Prepair 1000+ v1.2136 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2135 UQCRC2 Zornitza Stark Tag for review was removed from gene: UQCRC2.
Prepair 1000+ v1.2135 TRAPPC6B Seb Lunke Classified gene: TRAPPC6B as Green List (high evidence)
Prepair 1000+ v1.2135 TRAPPC6B Seb Lunke Gene: trappc6b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2134 TP53RK Lilian Downie Classified gene: TP53RK as Green List (high evidence)
Prepair 1000+ v1.2134 TP53RK Lilian Downie Gene: tp53rk has been classified as Green List (High Evidence).
Prepair 1000+ v1.2133 TRAPPC6B Seb Lunke Tag for review was removed from gene: TRAPPC6B.
Prepair 1000+ v1.2133 TP53RK Lilian Downie Tag for review was removed from gene: TP53RK.
Prepair 1000+ v1.2133 TPRKB Zornitza Stark Marked gene: TPRKB as ready
Prepair 1000+ v1.2133 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2133 TPRKB Zornitza Stark Publications for gene: TPRKB were set to 30053862; 28805828
Prepair 1000+ v1.2132 TPRKB Zornitza Stark Classified gene: TPRKB as Green List (high evidence)
Prepair 1000+ v1.2132 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2131 TPRKB Zornitza Stark Tag for review was removed from gene: TPRKB.
Prepair 1000+ v1.2131 TBC1D20 Lilian Downie Tag for review was removed from gene: TBC1D20.
Prepair 1000+ v1.2131 PKD1L1 Zornitza Stark Marked gene: PKD1L1 as ready
Prepair 1000+ v1.2131 PKD1L1 Zornitza Stark Gene: pkd1l1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2131 PKD1L1 Zornitza Stark Tag for review was removed from gene: PKD1L1.
Prepair 1000+ v1.2131 TBC1D20 Lilian Downie Classified gene: TBC1D20 as Green List (high evidence)
Prepair 1000+ v1.2131 TBC1D20 Lilian Downie Gene: tbc1d20 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2130 PKD1L1 Zornitza Stark reviewed gene: PKD1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 8, autosomal MIM#617205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2130 MFRP Zornitza Stark Classified gene: MFRP as Green List (high evidence)
Prepair 1000+ v1.2130 MFRP Zornitza Stark Gene: mfrp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2129 MFRP Zornitza Stark Tag for review was removed from gene: MFRP.
Prepair 1000+ v1.2129 ITGA3 Lilian Downie Classified gene: ITGA3 as Green List (high evidence)
Prepair 1000+ v1.2129 ITGA3 Lilian Downie Gene: itga3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Marked gene: ISCA1 as ready
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Classified gene: ISCA1 as Green List (high evidence)
Prepair 1000+ v1.2128 ISCA1 Zornitza Stark Gene: isca1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2127 ISCA1 Zornitza Stark Tag for review was removed from gene: ISCA1.
Prepair 1000+ v1.2127 IMPG2 Zornitza Stark Marked gene: IMPG2 as ready
Prepair 1000+ v1.2127 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2127 IMPG2 Zornitza Stark Publications for gene: IMPG2 were set to
Prepair 1000+ v1.2126 IMPG2 Zornitza Stark Classified gene: IMPG2 as Green List (high evidence)
Prepair 1000+ v1.2126 IMPG2 Zornitza Stark Gene: impg2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2125 IMPG2 Zornitza Stark Tag for review was removed from gene: IMPG2.
Prepair 1000+ v1.2125 HBA2 Seb Lunke Tag SV/CNV tag was added to gene: HBA2.
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Added comment: Comment when marking as ready: Discussed again: remains technically challenging therefore not suitable for inclusion. Other screening publicly available in pregnancy.
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2125 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Prepair 1000+ v1.2125 HBA1 Seb Lunke Tag SV/CNV tag was added to gene: HBA1.
Prepair 1000+ v1.2125 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Prepair 1000+ v1.2125 HBA1 Zornitza Stark Added comment: Comment when marking as ready: Discussed again: remains technically challenging therefore not suitable for inclusion. Other screening publicly available in pregnancy.
Prepair 1000+ v1.2125 HBA1 Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2125 GTPBP2 Lilian Downie Classified gene: GTPBP2 as Green List (high evidence)
Prepair 1000+ v1.2125 GTPBP2 Lilian Downie Gene: gtpbp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2124 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Prepair 1000+ v1.2124 GTPBP2 Lilian Downie Tag for review was removed from gene: GTPBP2.
Prepair 1000+ v1.2124 IGHM Seb Lunke Classified gene: IGHM as Green List (high evidence)
Prepair 1000+ v1.2124 IGHM Seb Lunke Added comment: Comment on list classification: Caution: Gene has annotation issues due to lack of refseq transcript annotation and maybe missed by some analysis pipelines. Checked ok for prepair+
Prepair 1000+ v1.2124 IGHM Seb Lunke Gene: ighm has been classified as Green List (High Evidence).
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Marked gene: FITM2 as ready
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Gene: fitm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Classified gene: FITM2 as Green List (high evidence)
Prepair 1000+ v1.2123 FITM2 Zornitza Stark Gene: fitm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2122 FITM2 Zornitza Stark Tag for review was removed from gene: FITM2.
Prepair 1000+ v1.2122 CSMD1 Lilian Downie Classified gene: CSMD1 as Green List (high evidence)
Prepair 1000+ v1.2122 CSMD1 Lilian Downie Gene: csmd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2121 CSMD1 Lilian Downie Tag for review was removed from gene: CSMD1.
Prepair 1000+ v1.2121 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Prepair 1000+ v1.2121 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2120 COG5 Zornitza Stark Tag for review was removed from gene: COG5.
Prepair 1000+ v1.2120 CHM Zornitza Stark Marked gene: CHM as ready
Prepair 1000+ v1.2120 CHM Zornitza Stark Added comment: Comment when marking as ready: Not suitable for reproductive carrier screening.
Prepair 1000+ v1.2120 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2120 BCAP31 Lilian Downie Classified gene: BCAP31 as Green List (high evidence)
Prepair 1000+ v1.2120 BCAP31 Lilian Downie Gene: bcap31 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2119 BCAP31 Lilian Downie Tag for review was removed from gene: BCAP31.
Prepair 1000+ v1.2119 CHM Zornitza Stark Tag for review was removed from gene: CHM.
Prepair 1000+ v1.2119 ACY1 Zornitza Stark Classified gene: ACY1 as Green List (high evidence)
Prepair 1000+ v1.2119 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2118 TTN Zornitza Stark Phenotypes for gene: TTN were changed from Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) to TTN-related myopathy MONDO:0100175
Prepair 1000+ v1.2117 XPNPEP3 Lilian Downie Classified gene: XPNPEP3 as Green List (high evidence)
Prepair 1000+ v1.2117 XPNPEP3 Lilian Downie Gene: xpnpep3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2116 TTN Zornitza Stark Publications for gene: TTN were set to
Prepair 1000+ v1.2115 XPNPEP3 Lilian Downie Tag for review was removed from gene: XPNPEP3.
Prepair 1000+ v1.2115 TTN Zornitza Stark Classified gene: TTN as Green List (high evidence)
Prepair 1000+ v1.2115 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Prepair 1000+ v1.2114 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2114 TMEM94 Lilian Downie Classified gene: TMEM94 as Green List (high evidence)
Prepair 1000+ v1.2114 TMEM94 Lilian Downie Gene: tmem94 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2113 TMEM94 Lilian Downie Tag for review was removed from gene: TMEM94.
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Added comment: Comment when marking as ready: Inclusion assumes appropriate coverage by capture method (checked for Prepair+)
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Tag for review was removed from gene: POLA1.
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Classified gene: POLA1 as Green List (high evidence)
Prepair 1000+ v1.2113 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2112 NTNG2 Lilian Downie Classified gene: NTNG2 as Green List (high evidence)
Prepair 1000+ v1.2112 NTNG2 Lilian Downie Gene: ntng2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2111 NTNG2 Lilian Downie Tag for review was removed from gene: NTNG2.
Prepair 1000+ v1.2111 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Prepair 1000+ v1.2111 NCF1 Zornitza Stark Added comment: Comment when marking as ready: Remains technically challenging, therefore exclude from V2.
Prepair 1000+ v1.2111 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2111 MOGS Lilian Downie Classified gene: MOGS as Green List (high evidence)
Prepair 1000+ v1.2111 MOGS Lilian Downie Gene: mogs has been classified as Green List (High Evidence).
Prepair 1000+ v1.2110 MOGS Lilian Downie Tag for review was removed from gene: MOGS.
Prepair 1000+ v1.2110 MBTPS1 Zornitza Stark Phenotypes for gene: MBTPS1 were changed from ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392 to Spondyloepiphyseal dysplasia, Kondo-Fu type MIM#618392
Prepair 1000+ v1.2109 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Prepair 1000+ v1.2109 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2108 DYNC1I2 Seb Lunke Classified gene: DYNC1I2 as Green List (high evidence)
Prepair 1000+ v1.2108 DYNC1I2 Seb Lunke Gene: dync1i2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2107 DYNC1I2 Seb Lunke Tag for review was removed from gene: DYNC1I2.
Prepair 1000+ v1.2107 ERBB3 Zornitza Stark Phenotypes for gene: ERBB3 were changed from Visceral neuropathy, familial, 1, autosomal recessive MIM#243180 to Visceral neuropathy, familial, 1, autosomal recessive MIM#243180; Lethal congenital contractural syndrome 2 MIM#607598
Prepair 1000+ v1.2106 CSTB Seb Lunke Tag for review was removed from gene: CSTB.
Prepair 1000+ v1.2106 ERBB3 Zornitza Stark Classified gene: ERBB3 as Green List (high evidence)
Prepair 1000+ v1.2106 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2105 CERKL Lilian Downie commented on gene: CERKL
Prepair 1000+ v1.2105 B9D1 Zornitza Stark Classified gene: B9D1 as Green List (high evidence)
Prepair 1000+ v1.2105 B9D1 Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2104 ADPRHL2 Seb Lunke Classified gene: ADPRHL2 as Green List (high evidence)
Prepair 1000+ v1.2104 ADPRHL2 Seb Lunke Gene: adprhl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Added comment: Comment when marking as ready: Treatable condition, vast majority receive Vitamin K at birth; not in scope for panel.
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2103 VKORC1 Zornitza Stark Phenotypes for gene: VKORC1 were changed from Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3) to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473
Prepair 1000+ v1.2102 VKORC1 Zornitza Stark Publications for gene: VKORC1 were set to
Prepair 1000+ v1.2101 VKORC1 Zornitza Stark Classified gene: VKORC1 as Red List (low evidence)
Prepair 1000+ v1.2101 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2100 RNU4ATAC Lilian Downie commented on gene: RNU4ATAC
Prepair 1000+ v1.2100 VKORC1 Zornitza Stark Tag for review was removed from gene: VKORC1.
Prepair 1000+ v1.2100 RNU4ATAC Lilian Downie Tag for review was removed from gene: RNU4ATAC.
Prepair 1000+ v1.2100 SURF1 Zornitza Stark Tag for review was removed from gene: SURF1.
Prepair 1000+ v1.2100 SLC9A3 Seb Lunke Classified gene: SLC9A3 as Amber List (moderate evidence)
Prepair 1000+ v1.2100 SLC9A3 Seb Lunke Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Marked gene: RCBTB1 as ready
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Added comment: Comment when marking as ready: Currently, onset appears to mostly in adulthood. Demote and review in the future re new reports with earlier onset.
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Gene: rcbtb1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2099 RCBTB1 Zornitza Stark Phenotypes for gene: RCBTB1 were changed from Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive to Retinal dystrophy with or without extraocular anomalies (MIM#617175)
Prepair 1000+ v1.2098 RCBTB1 Zornitza Stark Publications for gene: RCBTB1 were set to
Prepair 1000+ v1.2097 RCBTB1 Zornitza Stark Classified gene: RCBTB1 as Amber List (moderate evidence)
Prepair 1000+ v1.2097 RCBTB1 Zornitza Stark Gene: rcbtb1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2096 RCBTB1 Zornitza Stark Tag for review was removed from gene: RCBTB1.
Prepair 1000+ v1.2096 RARB Seb Lunke Classified gene: RARB as Amber List (moderate evidence)
Prepair 1000+ v1.2096 RARB Seb Lunke Added comment: Comment on list classification: Insufficient evidence for recessive disease
Prepair 1000+ v1.2096 RARB Seb Lunke Gene: rarb has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2095 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Prepair 1000+ v1.2095 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2095 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from Epilepsy, progressive myoclonic 1B, 612437 (3) to Epilepsy, progressive myoclonic 1B, MIM# 612437
Prepair 1000+ v1.2094 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Prepair 1000+ v1.2094 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2093 LRSAM1 Seb Lunke Classified gene: LRSAM1 as Amber List (moderate evidence)
Prepair 1000+ v1.2093 LRSAM1 Seb Lunke Added comment: Comment on list classification: Insufficient evidence for recessive
Prepair 1000+ v1.2093 LRSAM1 Seb Lunke Gene: lrsam1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2092 LIPC Zornitza Stark Marked gene: LIPC as ready
Prepair 1000+ v1.2092 LIPC Zornitza Stark Gene: lipc has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2092 LIPC Zornitza Stark Phenotypes for gene: LIPC were changed from Hepatic lipase deficiency, 614025 (3) to Hepatic lipase deficiency, MIM# 614025
Prepair 1000+ v1.2091 LIPC Zornitza Stark Tag for review was removed from gene: LIPC.
Prepair 1000+ v1.2091 LIPC Zornitza Stark Classified gene: LIPC as Red List (low evidence)
Prepair 1000+ v1.2091 LIPC Zornitza Stark Gene: lipc has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2090 LIPC Zornitza Stark edited their review of gene: LIPC: Changed rating: RED
Prepair 1000+ v1.2090 LCAT Lilian Downie Classified gene: LCAT as Red List (low evidence)
Prepair 1000+ v1.2090 LCAT Lilian Downie Added comment: Comment on list classification: Adult onset
Prepair 1000+ v1.2090 LCAT Lilian Downie Gene: lcat has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2089 LCAT Lilian Downie Tag for review was removed from gene: LCAT.
Prepair 1000+ v1.2089 HPD Zornitza Stark Tag for review was removed from gene: HPD.
Prepair 1000+ v1.2089 HBB Zornitza Stark Marked gene: HBB as ready
Prepair 1000+ v1.2089 HBB Zornitza Stark Gene: hbb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2089 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Thalassemias, beta-, 613985 (3) to Thalassemias, beta-, 613985; Sickle cell anaemia, MIM# 603903
Prepair 1000+ v1.2088 CSTB Seb Lunke Tag STR tag was added to gene: CSTB.
Prepair 1000+ v1.2088 HBB Zornitza Stark Tag for review was removed from gene: HBB.
Prepair 1000+ v1.2088 GNE Lilian Downie Classified gene: GNE as Red List (low evidence)
Prepair 1000+ v1.2088 GNE Lilian Downie Added comment: Comment on list classification: Adult onset
Prepair 1000+ v1.2088 GNE Lilian Downie Gene: gne has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2087 GNE Lilian Downie Tag for review was removed from gene: GNE.
Prepair 1000+ v1.2087 CTSF Zornitza Stark Marked gene: CTSF as ready
Prepair 1000+ v1.2087 CTSF Zornitza Stark Added comment: Comment when marking as ready: Generally adult onset, out of scope for panel.
Prepair 1000+ v1.2087 CTSF Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2087 CSTB Seb Lunke Classified gene: CSTB as Amber List (moderate evidence)
Prepair 1000+ v1.2087 CSTB Seb Lunke Added comment: Comment on list classification: Common dodecamer repeat accounts for 90% of variants, not detectable
Prepair 1000+ v1.2087 CSTB Seb Lunke Gene: cstb has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2086 CTSF Zornitza Stark Tag for review was removed from gene: CTSF.
Prepair 1000+ v1.2086 CTSF Zornitza Stark Classified gene: CTSF as Red List (low evidence)
Prepair 1000+ v1.2086 CTSF Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Added comment: Comment when marking as ready: Downgrade to Amber until CNV analysis included.
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Classified gene: CLN3 as Amber List (moderate evidence)
Prepair 1000+ v1.2085 CLN3 Zornitza Stark Gene: cln3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2084 CLCNKB Zornitza Stark Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 4b, digenic, 613090 (3) to Bartter syndrome, type 3 MIM#607364
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Marked gene: CLCNKB as ready
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Added comment: Comment when marking as ready: Digenic forms out of scope for this panel.
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Gene: clcnkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.2083 CLCNKB Zornitza Stark Tag for review was removed from gene: CLCNKB.
Prepair 1000+ v1.2083 CCDC8 Zornitza Stark Tag for review was removed from gene: CCDC8.
Prepair 1000+ v1.2083 CHMP1A Zornitza Stark Tag for review tag was added to gene: CHMP1A.
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Added comment: Comment when marking as ready: Other FA genes not included in panel.
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Gene: brip1 has been removed from the panel.
Prepair 1000+ v1.2083 BRIP1 Zornitza Stark Tag for review tag was added to gene: BRIP1.
Prepair 1000+ v1.2083 AMN Zornitza Stark Tag for review tag was added to gene: AMN.
Prepair 1000+ v1.2083 TRAPPC12 Zornitza Stark Marked gene: TRAPPC12 as ready
Prepair 1000+ v1.2083 TRAPPC12 Zornitza Stark Added comment: Comment when marking as ready: Upgrade to Green in V2.
Prepair 1000+ v1.2083 TRAPPC12 Zornitza Stark Gene: trappc12 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Marked gene: TBC1D20 as ready
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Added comment: Comment when marking as ready: Upgrade to Green in V2.
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Gene: tbc1d20 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2083 TBC1D20 Zornitza Stark Tag for review tag was added to gene: TBC1D20.
Prepair 1000+ v1.2083 OPN1LW Zornitza Stark Marked gene: OPN1LW as ready
Prepair 1000+ v1.2083 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2083 OPN1LW Zornitza Stark Publications for gene: OPN1LW were set to
Prepair 1000+ v1.2082 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Prepair 1000+ v1.2082 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2082 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica, 201100 (3) to Acrodermatitis enteropathica, MIM# 201100
Prepair 1000+ v1.2081 SLC39A4 Zornitza Stark Publications for gene: SLC39A4 were set to
Prepair 1000+ v1.2080 SLC39A4 Zornitza Stark reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 19370757; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2080 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Prepair 1000+ v1.2080 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2080 SLC30A10 Zornitza Stark Phenotypes for gene: SLC30A10 were changed from Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3) to Hypermanganesemia with dystonia 1, MIM#613280
Prepair 1000+ v1.2079 SLC30A10 Zornitza Stark Publications for gene: SLC30A10 were set to
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Marked gene: SLC12A5 as ready
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Gene: slc12a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2078 SLC12A5 Zornitza Stark Phenotypes for gene: SLC12A5 were changed from Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive to Developmental and epileptic encephalopathy 34 MIM#616645
Prepair 1000+ v1.2077 SLC12A5 Zornitza Stark Publications for gene: SLC12A5 were set to
Prepair 1000+ v1.2076 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Prepair 1000+ v1.2076 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2076 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II, 224100 (3) to Dyserythropoietic anaemia, congenital, type II MIM#224100
Prepair 1000+ v1.2075 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Prepair 1000+ v1.2074 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Prepair 1000+ v1.2074 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2074 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from Pseudohypoaldosteronism, type I, 264350 (3) to Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125
Prepair 1000+ v1.2073 SCNN1B Zornitza Stark Publications for gene: SCNN1B were set to
Prepair 1000+ v1.2072 SCN9A Zornitza Stark Marked gene: SCN9A as ready
Prepair 1000+ v1.2072 SCN9A Zornitza Stark Gene: scn9a has been classified as Green List (High Evidence).
Prepair 1000+ v1.2072 SCN9A Zornitza Stark Phenotypes for gene: SCN9A were changed from Insensitivity to pain, congenital, 243000 (3) to Insensitivity to pain, congenital, MIM# 243000
Prepair 1000+ v1.2071 SCN9A Zornitza Stark Publications for gene: SCN9A were set to
Prepair 1000+ v1.2070 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Prepair 1000+ v1.2070 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2070 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from Aicardi-Goutieres syndrome 5, 612952 (3) to Aicardi-Goutieres syndrome 5, MIM# 612952
Prepair 1000+ v1.2069 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2069 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Prepair 1000+ v1.2069 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2069 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Prepair 1000+ v1.2068 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2068 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Prepair 1000+ v1.2068 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2068 ROR2 Zornitza Stark Phenotypes for gene: ROR2 were changed from Robinow syndrome, autosomal recessive, 268310 (3) to Robinow syndrome, autosomal recessive MIM# 268310
Prepair 1000+ v1.2067 ROR2 Zornitza Stark reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive MIM# 268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2067 RNASET2 Zornitza Stark Marked gene: RNASET2 as ready
Prepair 1000+ v1.2067 RNASET2 Zornitza Stark Gene: rnaset2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2067 RNASET2 Zornitza Stark Phenotypes for gene: RNASET2 were changed from Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) to Leukoencephalopathy, cystic, without megalencephaly MIM#612951
Prepair 1000+ v1.2066 RNASET2 Zornitza Stark Publications for gene: RNASET2 were set to
Prepair 1000+ v1.2065 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Prepair 1000+ v1.2065 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.2065 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome 4, 610333 (3) to Aicardi-Goutieres syndrome 4 MIM#610333; RNASEH2A-related type 1 interferonopathy MONDO:0700259
Prepair 1000+ v1.2064 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Prepair 1000+ v1.2063 RFX6 Zornitza Stark Marked gene: RFX6 as ready
Prepair 1000+ v1.2063 RFX6 Zornitza Stark Gene: rfx6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2063 RFX6 Zornitza Stark Phenotypes for gene: RFX6 were changed from Mitchell-Riley syndrome, 615710 (3) to Mitchell-Riley syndrome, MIM# 615710
Prepair 1000+ v1.2062 RFX6 Zornitza Stark reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM# 615710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2062 RFT1 Zornitza Stark Marked gene: RFT1 as ready
Prepair 1000+ v1.2062 RFT1 Zornitza Stark Gene: rft1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2062 RFT1 Zornitza Stark Phenotypes for gene: RFT1 were changed from Congenital disorder of glycosylation, type In, 612015 (3) to Congenital disorder of glycosylation, type In, MIM# 612015
Prepair 1000+ v1.2061 RFT1 Zornitza Stark Publications for gene: RFT1 were set to
Prepair 1000+ v1.2060 RFT1 Zornitza Stark reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2060 RD3 Zornitza Stark Marked gene: RD3 as ready
Prepair 1000+ v1.2060 RD3 Zornitza Stark Gene: rd3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2060 RD3 Zornitza Stark reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 12, MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2060 RARB Zornitza Stark Tag for review tag was added to gene: RARB.
Prepair 1000+ v1.2060 RAG1 Zornitza Stark Marked gene: RAG1 as ready
Prepair 1000+ v1.2060 RAG1 Zornitza Stark Gene: rag1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2060 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from Severe combined immunodeficiency, B cell-negative, 601457 (3) to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457
Prepair 1000+ v1.2059 RAG1 Zornitza Stark reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889, Combined cellular and humoral immune defects with granulomas MIM# 233650, Omenn syndrome MIM# 603554, Severe combined immunodeficiency, B cell-negative MIM# 601457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2059 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Prepair 1000+ v1.2059 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2059 PYCR1 Zornitza Stark Phenotypes for gene: PYCR1 were changed from Cutis laxa, autosomal recessive, type IIB, 612940 (3) to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438
Prepair 1000+ v1.2058 PYCR1 Zornitza Stark reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IIB MIM#612940, Cutis laxa, autosomal recessive, type IIIB MIM#614438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2058 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Prepair 1000+ v1.2058 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2058 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3) to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Prepair 1000+ v1.2057 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Prepair 1000+ v1.2056 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2056 PROS1 Zornitza Stark Marked gene: PROS1 as ready
Prepair 1000+ v1.2056 PROS1 Zornitza Stark Gene: pros1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2056 PROS1 Zornitza Stark Phenotypes for gene: PROS1 were changed from Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) to Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514
Prepair 1000+ v1.2055 PROS1 Zornitza Stark reviewed gene: PROS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2055 PPIB Zornitza Stark Marked gene: PPIB as ready
Prepair 1000+ v1.2055 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Prepair 1000+ v1.2055 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from Osteogenesis imperfecta, type IX, #259440 to Osteogenesis imperfecta, type IX MIM#259440
Prepair 1000+ v1.2054 PPIB Zornitza Stark Publications for gene: PPIB were set to
Prepair 1000+ v1.2053 POMT2 Zornitza Stark Marked gene: POMT2 as ready
Prepair 1000+ v1.2053 POMT2 Zornitza Stark Gene: pomt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2053 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156
Prepair 1000+ v1.2052 POMT2 Zornitza Stark Publications for gene: POMT2 were set to
Prepair 1000+ v1.2051 POLG Zornitza Stark Marked gene: POLG as ready
Prepair 1000+ v1.2051 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Prepair 1000+ v1.2051 POLG Zornitza Stark Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662
Prepair 1000+ v1.2050 POLG Zornitza Stark reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2050 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Prepair 1000+ v1.2050 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2050 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome, 215470 (3) to Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020
Prepair 1000+ v1.2049 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Prepair 1000+ v1.2048 PNP Zornitza Stark Marked gene: PNP as ready
Prepair 1000+ v1.2048 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2048 PNP Zornitza Stark Publications for gene: PNP were set to
Prepair 1000+ v1.2047 PNP Zornitza Stark edited their review of gene: PNP: Changed publications: 3029074, 1384322, 11453975, 32695102, 32514656
Prepair 1000+ v1.2047 PNP Zornitza Stark Phenotypes for gene: PNP were changed from Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
Prepair 1000+ v1.2046 PNP Zornitza Stark reviewed gene: PNP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2046 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from Borjeson-Forssman-Lehmann syndrome, 301900 (3) to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Prepair 1000+ v1.2045 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.2045 PET100 Zornitza Stark Marked gene: PET100 as ready
Prepair 1000+ v1.2045 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2045 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Prepair 1000+ v1.2044 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2044 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Prepair 1000+ v1.2044 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2044 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from Pyruvate dehydrogenase phosphatase deficiency, 608782 (3) to Pyruvate dehydrogenase phosphatase deficiency,MIM#608782
Prepair 1000+ v1.2043 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Prepair 1000+ v1.2042 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Prepair 1000+ v1.2042 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2042 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955 (3) to Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955
Prepair 1000+ v1.2041 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Prepair 1000+ v1.2040 PCCA Zornitza Stark Marked gene: PCCA as ready
Prepair 1000+ v1.2040 PCCA Zornitza Stark Gene: pcca has been classified as Green List (High Evidence).
Prepair 1000+ v1.2040 PCCA Zornitza Stark Phenotypes for gene: PCCA were changed from Propionicacidemia, 606054 (3) to Propionicacidemia, MIM#606054
Prepair 1000+ v1.2039 PCCA Zornitza Stark Publications for gene: PCCA were set to
Prepair 1000+ v1.2038 PAK3 Zornitza Stark Marked gene: PAK3 as ready
Prepair 1000+ v1.2038 PAK3 Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2038 PAK3 Zornitza Stark Phenotypes for gene: PAK3 were changed from Mental retardation, X-linked 30/47, 300558 (3) to Intellectual developmental disorder, X-linked 30 MIM#300558
Prepair 1000+ v1.2037 PAK3 Zornitza Stark Publications for gene: PAK3 were set to
Prepair 1000+ v1.2036 PAH Zornitza Stark Marked gene: PAH as ready
Prepair 1000+ v1.2036 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Prepair 1000+ v1.2036 PAH Zornitza Stark Phenotypes for gene: PAH were changed from Phenylketonuria, 261600 (3) to Phenylketonuria, MIM#261600
Prepair 1000+ v1.2035 PAH Zornitza Stark Publications for gene: PAH were set to
Prepair 1000+ v1.2034 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Prepair 1000+ v1.2034 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Prepair 1000+ v1.2034 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452
Prepair 1000+ v1.2033 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Marked gene: LRSAM1 as ready
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Added comment: Comment when marking as ready: Only single AR family reported, insufficient evidence, downgrade to RED
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Gene: lrsam1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2032 LRSAM1 Lilian Downie Publications for gene: LRSAM1 were set to
Prepair 1000+ v1.2031 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Prepair 1000+ v1.2031 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Prepair 1000+ v1.2031 OSGEP Zornitza Stark Phenotypes for gene: OSGEP were changed from Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive to Galloway-Mowat syndrome 3, MIM# 617729
Prepair 1000+ v1.2030 OSGEP Zornitza Stark Publications for gene: OSGEP were set to
Prepair 1000+ v1.2029 OSGEP Zornitza Stark reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.2029 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Prepair 1000+ v1.2029 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2029 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Behr syndrome, 210000 (3), Autosomal recessive to Behr syndrome, MIM#210000
Prepair 1000+ v1.2028 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Prepair 1000+ v1.2027 PUS7 Lilian Downie Marked gene: PUS7 as ready
Prepair 1000+ v1.2027 PUS7 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.2027 PUS7 Lilian Downie Gene: pus7 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2027 NUP107 Zornitza Stark Marked gene: NUP107 as ready
Prepair 1000+ v1.2027 NUP107 Zornitza Stark Gene: nup107 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2027 NUP107 Zornitza Stark Phenotypes for gene: NUP107 were changed from Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive to Galloway-Mowat syndrome 7, MIM#618348; Nephrotic syndrome, type 11, MIM#616730
Prepair 1000+ v1.2026 NUP107 Zornitza Stark Publications for gene: NUP107 were set to
Prepair 1000+ v1.2025 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Prepair 1000+ v1.2025 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.2025 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 21, MIM#618242
Prepair 1000+ v1.2024 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Prepair 1000+ v1.2023 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Prepair 1000+ v1.2023 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2023 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive, 300018 (3) to Adrenal hypoplasia, congenital, MIM#300200
Prepair 1000+ v1.2022 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Prepair 1000+ v1.2021 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Prepair 1000+ v1.2021 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2021 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970
Prepair 1000+ v1.2020 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Prepair 1000+ v1.2019 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Prepair 1000+ v1.2019 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2019 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 1, MIM#252010
Prepair 1000+ v1.2018 NCF1 Lilian Downie Tag for review tag was added to gene: NCF1.
Prepair 1000+ v1.2018 NDP Zornitza Stark Marked gene: NDP as ready
Prepair 1000+ v1.2018 NDP Zornitza Stark Gene: ndp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2018 NDP Zornitza Stark Phenotypes for gene: NDP were changed from Norrie disease, 310600 (3) to Norrie disease, MIM#310600
Prepair 1000+ v1.2017 NDP Zornitza Stark Publications for gene: NDP were set to
Prepair 1000+ v1.2016 NDE1 Zornitza Stark Marked gene: NDE1 as ready
Prepair 1000+ v1.2016 NDE1 Zornitza Stark Gene: nde1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2016 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), 614019 (3) to Lissencephaly 4 (with microcephaly), MIM#614019
Prepair 1000+ v1.2015 NDE1 Zornitza Stark Publications for gene: NDE1 were set to
Prepair 1000+ v1.2014 NCF2 Zornitza Stark Marked gene: NCF2 as ready
Prepair 1000+ v1.2014 NCF2 Zornitza Stark Gene: ncf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2014 NCF2 Zornitza Stark Phenotypes for gene: NCF2 were changed from Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Prepair 1000+ v1.2013 NCF2 Zornitza Stark Publications for gene: NCF2 were set to
Prepair 1000+ v1.2012 NAGA Zornitza Stark Marked gene: NAGA as ready
Prepair 1000+ v1.2012 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Prepair 1000+ v1.2012 NAGA Zornitza Stark Phenotypes for gene: NAGA were changed from Schindler disease, type I, 609241 (3) to Schindler disease, type I MIM#609241; Schindler disease, type III MIM#609241
Prepair 1000+ v1.2011 NAGA Zornitza Stark Publications for gene: NAGA were set to
Prepair 1000+ v1.2010 PDE6B Lilian Downie Marked gene: PDE6B as ready
Prepair 1000+ v1.2010 PDE6B Lilian Downie Gene: pde6b has been classified as Red List (Low Evidence).
Prepair 1000+ v1.2010 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Prepair 1000+ v1.2010 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2010 PDE6B Lilian Downie Publications for gene: PDE6B were set to
Prepair 1000+ v1.2009 MYD88 Zornitza Stark Phenotypes for gene: MYD88 were changed from Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) to Immunodeficiency 68, MIM# 612260
Prepair 1000+ v1.2008 MYD88 Zornitza Stark Publications for gene: MYD88 were set to
Prepair 1000+ v1.2007 MUSK Zornitza Stark Marked gene: MUSK as ready
Prepair 1000+ v1.2007 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Prepair 1000+ v1.2007 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) to Fetal akinesia deformation sequence 1 MIM#208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325
Prepair 1000+ v1.2006 MUSK Zornitza Stark Publications for gene: MUSK were set to
Prepair 1000+ v1.2005 GBA Lilian Downie Marked gene: GBA as ready
Prepair 1000+ v1.2005 GBA Lilian Downie Added comment: Comment when marking as ready: Consider upgrading to green as most common variant detectable and suitable disease for inclusion.
Prepair 1000+ v1.2005 GBA Lilian Downie Gene: gba has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.2005 CHMP1A Lilian Downie Marked gene: CHMP1A as ready
Prepair 1000+ v1.2005 CHMP1A Lilian Downie Added comment: Comment when marking as ready: Inclusion, green on PanelApp and severe childhood disease
Prepair 1000+ v1.2005 CHMP1A Lilian Downie Gene: chmp1a has been removed from the panel.
Prepair 1000+ v1.2005 MTTP Zornitza Stark Marked gene: MTTP as ready
Prepair 1000+ v1.2005 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Prepair 1000+ v1.2005 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, 200100 (3) to Abetalipoproteinemia MIM#200100
Prepair 1000+ v1.2004 MTTP Zornitza Stark Publications for gene: MTTP were set to
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Marked gene: MTHFD1 as ready
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2003 MTHFD1 Zornitza Stark Phenotypes for gene: MTHFD1 were changed from Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive to Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Prepair 1000+ v1.2002 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to
Prepair 1000+ v1.2001 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Prepair 1000+ v1.2001 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2001 MSTO1 Zornitza Stark Publications for gene: MSTO1 were set to 30684668; 31463572
Prepair 1000+ v1.2000 MMP2 Zornitza Stark Marked gene: MMP2 as ready
Prepair 1000+ v1.2000 MMP2 Zornitza Stark Gene: mmp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.2000 MMP2 Zornitza Stark Phenotypes for gene: MMP2 were changed from Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) to Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600
Prepair 1000+ v1.1999 MMP2 Zornitza Stark Publications for gene: MMP2 were set to
Prepair 1000+ v1.1998 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Prepair 1000+ v1.1998 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1998 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004
Prepair 1000+ v1.1997 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Prepair 1000+ v1.1996 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Prepair 1000+ v1.1996 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1996 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome 1, 249000 (3) to Bardet-Biedl syndrome 13 MIM#615990; Joubert syndrome 28 MIM#617121; Meckel syndrome 1 MIM#249000; Ciliopathy MONDO:0005308
Prepair 1000+ v1.1995 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Prepair 1000+ v1.1994 MICU1 Zornitza Stark Marked gene: MICU1 as ready
Prepair 1000+ v1.1994 MICU1 Zornitza Stark Gene: micu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1994 MICU1 Zornitza Stark Phenotypes for gene: MICU1 were changed from Myopathy with extrapyramidal signs, 615673 (3) to Myopathy with extrapyramidal signs, MIM# 615673
Prepair 1000+ v1.1993 MICU1 Zornitza Stark Publications for gene: MICU1 were set to
Prepair 1000+ v1.1992 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Prepair 1000+ v1.1992 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1992 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive to Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800
Prepair 1000+ v1.1991 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1991 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Prepair 1000+ v1.1990 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Prepair 1000+ v1.1990 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1990 METTL23 Zornitza Stark Phenotypes for gene: METTL23 were changed from Mental retardation, autosomal recessive 44, 615942 (3) to Intellectual developmental disorder, autosomal recessive 44, MIM #615942
Prepair 1000+ v1.1989 METTL23 Zornitza Stark Publications for gene: METTL23 were set to
Prepair 1000+ v1.1988 MEGF10 Zornitza Stark Marked gene: MEGF10 as ready
Prepair 1000+ v1.1988 MEGF10 Zornitza Stark Gene: megf10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1988 MEGF10 Zornitza Stark Phenotypes for gene: MEGF10 were changed from Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) to Congenital myopathy 10A, severe variant, MIM #614399; Congenital myopathy 10B, mild variant, MIM #620249
Prepair 1000+ v1.1987 MEGF10 Zornitza Stark Publications for gene: MEGF10 were set to
Prepair 1000+ v1.1986 MED12 Zornitza Stark Marked gene: MED12 as ready
Prepair 1000+ v1.1986 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1986 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Lujan-Fryns syndrome, 309520 (3) to MED12-related intellectual disability syndrome, MONDO:0100000
Prepair 1000+ v1.1985 MED12 Zornitza Stark Publications for gene: MED12 were set to
Prepair 1000+ v1.1984 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Prepair 1000+ v1.1984 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1984 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from IFAP syndrome with or without BRESHECK syndrome, 308205 (3) to IFAP syndrome with or without BRESHECK syndrome MIM#308205; Osteogenesis imperfecta, type XIX MIM#301014
Prepair 1000+ v1.1983 MBTPS2 Zornitza Stark Publications for gene: MBTPS2 were set to
Prepair 1000+ v1.1982 MAPKBP1 Zornitza Stark Marked gene: MAPKBP1 as ready
Prepair 1000+ v1.1982 MAPKBP1 Zornitza Stark Gene: mapkbp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1982 MAPKBP1 Zornitza Stark Phenotypes for gene: MAPKBP1 were changed from Nephronophthisis 20, 617271 (3), Autosomal recessive to Nephronophthisis 20, MIM# 617271; MONDO:0014997
Prepair 1000+ v1.1981 MAPKBP1 Zornitza Stark Publications for gene: MAPKBP1 were set to
Prepair 1000+ v1.1980 LYST Zornitza Stark Marked gene: LYST as ready
Prepair 1000+ v1.1980 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Prepair 1000+ v1.1980 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome, 214500 (3) to Chediak-Higashi syndrome MIM#214500
Prepair 1000+ v1.1979 LYST Zornitza Stark Publications for gene: LYST were set to
Prepair 1000+ v1.1978 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Prepair 1000+ v1.1978 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Prepair 1000+ v1.1978 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from Albinism, oculocutaneous, type VII, 615179 (3) to Albinism, oculocutaneous, type VII MIM#615179; MONDO:0014070
Prepair 1000+ v1.1977 LRMDA Zornitza Stark Publications for gene: LRMDA were set to
Prepair 1000+ v1.1976 LRAT Zornitza Stark Marked gene: LRAT as ready
Prepair 1000+ v1.1976 LRAT Zornitza Stark Gene: lrat has been classified as Green List (High Evidence).
Prepair 1000+ v1.1976 LRAT Zornitza Stark Phenotypes for gene: LRAT were changed from Leber congenital amaurosis 14, 613341 (3) to Retinal dystrophy, early-onset severe; Leber congenital amaurosis 14; Retinitis pigmentosa, juvenile, all under MIM #613341
Prepair 1000+ v1.1975 LRAT Zornitza Stark Publications for gene: LRAT were set to
Prepair 1000+ v1.1974 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Prepair 1000+ v1.1974 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1974 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 (3) to CODAS syndrome, MIM#600373
Prepair 1000+ v1.1973 LONP1 Zornitza Stark Publications for gene: LONP1 were set to
Prepair 1000+ v1.1972 LMOD3 Zornitza Stark Marked gene: LMOD3 as ready
Prepair 1000+ v1.1972 LMOD3 Zornitza Stark Gene: lmod3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1972 LMOD3 Zornitza Stark Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10, 616165 (3) to Nemaline myopathy 10, MIM#616165
Prepair 1000+ v1.1971 LMOD3 Zornitza Stark Publications for gene: LMOD3 were set to
Prepair 1000+ v1.1970 LIPC Zornitza Stark Tag for review tag was added to gene: LIPC.
Prepair 1000+ v1.1970 LIPC Zornitza Stark reviewed gene: LIPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic lipase deficiency, MIM# 614025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1970 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Prepair 1000+ v1.1970 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1970 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from Perrault syndrome 4, 615300 (3) to Hydrops, lactic acidosis, and sideroblastic anaemia MIM#617021; Perrault syndrome 4 MIM#615300
Prepair 1000+ v1.1969 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Prepair 1000+ v1.1968 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Prepair 1000+ v1.1968 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1968 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome, 609049 (3) to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Prepair 1000+ v1.1967 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1967 SLC7A7 Lilian Downie Marked gene: SLC7A7 as ready
Prepair 1000+ v1.1967 SLC7A7 Lilian Downie Gene: slc7a7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1967 SLC7A7 Lilian Downie Publications for gene: SLC7A7 were set to
Prepair 1000+ v1.1966 STIM1 Lilian Downie Marked gene: STIM1 as ready
Prepair 1000+ v1.1966 STIM1 Lilian Downie Gene: stim1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1966 STIM1 Lilian Downie Publications for gene: STIM1 were set to
Prepair 1000+ v1.1965 TOE1 Lilian Downie Marked gene: TOE1 as ready
Prepair 1000+ v1.1965 TOE1 Lilian Downie Gene: toe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1965 TOE1 Lilian Downie Phenotypes for gene: TOE1 were changed from Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 7 MIM#614969
Prepair 1000+ v1.1964 TOE1 Lilian Downie Publications for gene: TOE1 were set to
Prepair 1000+ v1.1963 TPP1 Lilian Downie Marked gene: TPP1 as ready
Prepair 1000+ v1.1963 TPP1 Lilian Downie Gene: tpp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1963 TPP1 Lilian Downie Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis, neuronal, 2, 204500 (3) to Ceroid lipofuscinosis, neuronal, 2 MIM#204500; Spinocerebellar ataxia, autosomal recessive 7 MIM#609270
Prepair 1000+ v1.1962 TPP1 Lilian Downie Publications for gene: TPP1 were set to
Prepair 1000+ v1.1961 TRAPPC11 Lilian Downie Marked gene: TRAPPC11 as ready
Prepair 1000+ v1.1961 TRAPPC11 Lilian Downie Gene: trappc11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1961 TRAPPC11 Lilian Downie Publications for gene: TRAPPC11 were set to
Prepair 1000+ v1.1960 TRMT10A Lilian Downie Marked gene: TRMT10A as ready
Prepair 1000+ v1.1960 TRMT10A Lilian Downie Gene: trmt10a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1960 TRMT10A Lilian Downie Publications for gene: TRMT10A were set to
Prepair 1000+ v1.1959 UBE3B Lilian Downie Marked gene: UBE3B as ready
Prepair 1000+ v1.1959 UBE3B Lilian Downie Gene: ube3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1959 UBE3B Lilian Downie Publications for gene: UBE3B were set to
Prepair 1000+ v1.1958 USH1G Lilian Downie Marked gene: USH1G as ready
Prepair 1000+ v1.1958 USH1G Lilian Downie Gene: ush1g has been classified as Green List (High Evidence).
Prepair 1000+ v1.1958 USH1G Lilian Downie Publications for gene: USH1G were set to
Prepair 1000+ v1.1957 VIPAS39 Lilian Downie Marked gene: VIPAS39 as ready
Prepair 1000+ v1.1957 VIPAS39 Lilian Downie Gene: vipas39 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1957 VIPAS39 Lilian Downie Publications for gene: VIPAS39 were set to
Prepair 1000+ v1.1956 VKORC1 Lilian Downie Marked gene: VKORC1 as ready
Prepair 1000+ v1.1956 VKORC1 Lilian Downie Added comment: Comment when marking as ready: Single homozygous missense variant, Arg98Trp reported to cause the AR phenotype (PMID: 12704386). (ClinGen 2023) This phenotype causes intracranial haemmorhage in the first weeks of life and ongoing bleeding predisposition but this is reversed with vit K administration so highly treatable.
Prepair 1000+ v1.1956 VKORC1 Lilian Downie Gene: vkorc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1956 XRCC4 Lilian Downie Marked gene: XRCC4 as ready
Prepair 1000+ v1.1956 XRCC4 Lilian Downie Gene: xrcc4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1956 XRCC4 Lilian Downie Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive to Short stature, microcephaly, and endocrine dysfunction MIM#616541
Prepair 1000+ v1.1955 XRCC4 Lilian Downie Publications for gene: XRCC4 were set to
Prepair 1000+ v1.1954 XYLT2 Lilian Downie Marked gene: XYLT2 as ready
Prepair 1000+ v1.1954 XYLT2 Lilian Downie Gene: xylt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1954 XYLT2 Lilian Downie Phenotypes for gene: XYLT2 were changed from Spondyloocular syndrome, 605822 (3), Autosomal recessive to Spondyloocular syndrome MIM#605822
Prepair 1000+ v1.1953 XYLT2 Lilian Downie Publications for gene: XYLT2 were set to
Prepair 1000+ v1.1952 KIF7 Zornitza Stark Marked gene: KIF7 as ready
Prepair 1000+ v1.1952 KIF7 Zornitza Stark Gene: kif7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1952 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from Hydrolethalus syndrome 2, 614120 (3) to Al-Gazali-Bakalinova syndrome MIM#607131; Hydrolethalus syndrome 2 MIM#614120; Acrocallosal syndrome MIM#200990; Joubert syndrome 12 MIM#200990
Prepair 1000+ v1.1951 KIF7 Zornitza Stark Publications for gene: KIF7 were set to
Prepair 1000+ v1.1950 KIAA1109 Zornitza Stark Marked gene: KIAA1109 as ready
Prepair 1000+ v1.1950 KIAA1109 Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1950 KIAA1109 Zornitza Stark Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive to Alkuraya-Kucinskas syndrome MIM#617822
Prepair 1000+ v1.1949 KIAA1109 Zornitza Stark Publications for gene: KIAA1109 were set to
Prepair 1000+ v1.1948 KIAA1109 Zornitza Stark Tag new gene name tag was added to gene: KIAA1109.
Prepair 1000+ v1.1948 KCNV2 Zornitza Stark Marked gene: KCNV2 as ready
Prepair 1000+ v1.1948 KCNV2 Zornitza Stark Gene: kcnv2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1948 KCNV2 Zornitza Stark Phenotypes for gene: KCNV2 were changed from Retinal cone dystrophy 3B, 610356 (3) to Retinal cone dystrophy 3B MIM#610356
Prepair 1000+ v1.1947 KCNV2 Zornitza Stark Publications for gene: KCNV2 were set to
Prepair 1000+ v1.1946 ITK Zornitza Stark Marked gene: ITK as ready
Prepair 1000+ v1.1946 ITK Zornitza Stark Gene: itk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1946 ITK Zornitza Stark Phenotypes for gene: ITK were changed from Lymphoproliferative syndrome 1, 613011 (3) to Lymphoproliferative syndrome 1 MIM# 613011
Prepair 1000+ v1.1945 ITK Zornitza Stark Publications for gene: ITK were set to
Prepair 1000+ v1.1944 ITK Zornitza Stark changed review comment from: Established gene-disease association characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, haemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinaemia. Autoimmune disorders, such as autoimmune haemolytic anemia or renal disease, may also occur.; to: Established gene-disease association characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, haemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinaemia. Autoimmune disorders, such as autoimmune haemolytic anaemia or renal disease, may also occur.
Prepair 1000+ v1.1944 ITK Zornitza Stark reviewed gene: ITK: Rating: GREEN; Mode of pathogenicity: None; Publications: 19425169, 22289921, 25061172, 26056787, 9311799, 10213685; Phenotypes: Lymphoproliferative syndrome 1 MIM# 613011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1944 INVS Zornitza Stark Marked gene: INVS as ready
Prepair 1000+ v1.1944 INVS Zornitza Stark Gene: invs has been classified as Green List (High Evidence).
Prepair 1000+ v1.1944 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile, 602088 (3) to Nephronophthisis 2, infantile, (MIM#602088)
Prepair 1000+ v1.1943 INVS Zornitza Stark reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 2, infantile, (MIM#602088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1943 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Prepair 1000+ v1.1943 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Prepair 1000+ v1.1943 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Prepair 1000+ v1.1942 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Prepair 1000+ v1.1941 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Prepair 1000+ v1.1941 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Prepair 1000+ v1.1941 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1941 IFT172 Zornitza Stark Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3) to Bardet-Biedl syndrome 20 MIM#619471; Retinitis pigmentosa 71 MIM#616394; Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630
Prepair 1000+ v1.1940 IFT172 Zornitza Stark Publications for gene: IFT172 were set to
Prepair 1000+ v1.1939 IDUA Zornitza Stark Marked gene: IDUA as ready
Prepair 1000+ v1.1939 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Prepair 1000+ v1.1939 IDUA Zornitza Stark Phenotypes for gene: IDUA were changed from Mucopolysaccharidosis Ih, 607014 (3) to Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014
Prepair 1000+ v1.1938 IDUA Zornitza Stark reviewed gene: IDUA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1938 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Prepair 1000+ v1.1938 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1938 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive to Multiple mitochondrial dysfunctions syndrome 3 MIM#615330
Prepair 1000+ v1.1937 IBA57 Zornitza Stark Publications for gene: IBA57 were set to
Prepair 1000+ v1.1936 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Prepair 1000+ v1.1936 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1936 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome, 236680 (3) to Hydrolethalus syndrome (MIM#236680)
Prepair 1000+ v1.1935 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Prepair 1000+ v1.1934 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Prepair 1000+ v1.1934 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1934 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, 612233 (3) to Leukodystrophy, hypomyelinating, 4 MIM#612233
Prepair 1000+ v1.1933 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark edited their review of gene: HSD3B7: Changed publications: 27604308
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark Marked gene: HSD3B7 as ready
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark Gene: hsd3b7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1932 HSD3B7 Zornitza Stark Publications for gene: HSD3B7 were set to
Prepair 1000+ v1.1931 HSD3B7 Zornitza Stark Phenotypes for gene: HSD3B7 were changed from Bile acid synthesis defect, congenital, 1, 607765 (3) to Bile acid synthesis defect, congenital, 1 MIM#607765
Prepair 1000+ v1.1930 HSD3B7 Zornitza Stark reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1930 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Prepair 1000+ v1.1930 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1930 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3, 614072 (3) to Hermansky-Pudlak syndrome 3 MIM#614072
Prepair 1000+ v1.1929 HPS3 Zornitza Stark Publications for gene: HPS3 were set to
Prepair 1000+ v1.1928 HAMP Zornitza Stark Marked gene: HAMP as ready
Prepair 1000+ v1.1928 HAMP Zornitza Stark Gene: hamp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1928 HAMP Zornitza Stark Phenotypes for gene: HAMP were changed from Hemochromatosis, type 2B, 613313 (3) to Haemochromatosis, type 2B MIM#613313
Prepair 1000+ v1.1927 HAMP Zornitza Stark Publications for gene: HAMP were set to
Prepair 1000+ v1.1926 HADH Zornitza Stark Marked gene: HADH as ready
Prepair 1000+ v1.1926 HADH Zornitza Stark Gene: hadh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1926 HADH Zornitza Stark Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Prepair 1000+ v1.1925 HADH Zornitza Stark Publications for gene: HADH were set to
Prepair 1000+ v1.1924 GM2A Zornitza Stark Marked gene: GM2A as ready
Prepair 1000+ v1.1924 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1924 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant, 272750 (3) to GM2-gangliosidosis, AB variant MIM #272750
Prepair 1000+ v1.1923 GM2A Zornitza Stark Publications for gene: GM2A were set to
Prepair 1000+ v1.1922 GLDN Zornitza Stark Marked gene: GLDN as ready
Prepair 1000+ v1.1922 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1922 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive to Lethal congenital contracture syndrome 11 MIM#617194
Prepair 1000+ v1.1921 GLDN Zornitza Stark Publications for gene: GLDN were set to
Prepair 1000+ v1.1920 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Prepair 1000+ v1.1920 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1920 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from Cataract 18, autosomal recessive, 610019 (3) to Cataract 18, MIM#610019
Prepair 1000+ v1.1919 FYCO1 Zornitza Stark reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 18, MIM#610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1919 FTSJ1 Zornitza Stark Marked gene: FTSJ1 as ready
Prepair 1000+ v1.1919 FTSJ1 Zornitza Stark Gene: ftsj1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1919 FTSJ1 Zornitza Stark Phenotypes for gene: FTSJ1 were changed from Mental retardation, X-linked 9, 309549 (3) to Intellectual developmental disorder, X-linked 9 MIM#309549
Prepair 1000+ v1.1918 FTSJ1 Zornitza Stark Publications for gene: FTSJ1 were set to
Prepair 1000+ v1.1917 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Prepair 1000+ v1.1917 FRAS1 Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1917 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from Fraser syndrome, 219000 (3) to Fraser syndrome 1 MIM#219000
Prepair 1000+ v1.1916 FRAS1 Zornitza Stark Publications for gene: FRAS1 were set to
Prepair 1000+ v1.1915 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Prepair 1000+ v1.1915 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1915 FLAD1 Zornitza Stark Phenotypes for gene: FLAD1 were changed from Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Prepair 1000+ v1.1914 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Prepair 1000+ v1.1913 FLAD1 Zornitza Stark reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34454814, 34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1913 FKBP14 Zornitza Stark Marked gene: FKBP14 as ready
Prepair 1000+ v1.1913 FKBP14 Zornitza Stark Gene: fkbp14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1913 FKBP14 Zornitza Stark Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557
Prepair 1000+ v1.1912 FKBP14 Zornitza Stark Publications for gene: FKBP14 were set to
Prepair 1000+ v1.1911 FHL1 Zornitza Stark Marked gene: FHL1 as ready
Prepair 1000+ v1.1911 FHL1 Zornitza Stark Gene: fhl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1911 FHL1 Zornitza Stark Phenotypes for gene: FHL1 were changed from Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Prepair 1000+ v1.1910 FHL1 Zornitza Stark Publications for gene: FHL1 were set to
Prepair 1000+ v1.1909 FHL1 Zornitza Stark Mode of inheritance for gene: FHL1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1908 FGD4 Zornitza Stark Marked gene: FGD4 as ready
Prepair 1000+ v1.1908 FGD4 Zornitza Stark Gene: fgd4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1908 FGD4 Zornitza Stark Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease, type 4H, 609311 (3) to Charcot-Marie-Tooth disease, type 4H MIM#609311; Charcot-Marie-Tooth disease MONDO:0015626
Prepair 1000+ v1.1907 FGD4 Zornitza Stark Publications for gene: FGD4 were set to
Prepair 1000+ v1.1906 FANCL Zornitza Stark Marked gene: FANCL as ready
Prepair 1000+ v1.1906 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1906 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from Fanconi anemia, complementation group L, 614083 (3) to Fanconi anaemia, complementation group L MIM#614083
Prepair 1000+ v1.1905 FANCL Zornitza Stark Publications for gene: FANCL were set to
Prepair 1000+ v1.1904 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Prepair 1000+ v1.1904 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1904 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from Fanconi anemia, complementation group D2, 227646 (3) to Fanconi anaemia, complementation group D2 MIM#227646
Prepair 1000+ v1.1903 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Prepair 1000+ v1.1902 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Prepair 1000+ v1.1902 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1902 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from Fanconi anemia, complementation group Q, 615272 (3) to Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215; XFE progeroid syndrome, MIM# 610965 MONDO:0012590
Prepair 1000+ v1.1901 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215, XFE progeroid syndrome, MIM# 610965 MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1901 DOLK Zornitza Stark Marked gene: DOLK as ready
Prepair 1000+ v1.1901 DOLK Zornitza Stark Gene: dolk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1901 DOLK Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im, 610768 (3) to Congenital disorder of glycosylation, type Im, MIM# 610768
Prepair 1000+ v1.1900 DOLK Zornitza Stark Publications for gene: DOLK were set to
Prepair 1000+ v1.1899 DOLK Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Added comment: Comment when marking as ready: Deafness currently out of scope for this panel.
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1899 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from Fibrochondrogenesis 2, 614524 (3) to Fibrochondrogenesis 2 MIM#614524
Prepair 1000+ v1.1898 COL11A2 Zornitza Stark Publications for gene: COL11A2 were set to
Prepair 1000+ v1.1897 AGK Zornitza Stark Marked gene: AGK as ready
Prepair 1000+ v1.1897 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1897 AGK Zornitza Stark Phenotypes for gene: AGK were changed from Sengers syndrome, 212350 (3) to Sengers syndrome, MIM#212350
Prepair 1000+ v1.1896 AGK Zornitza Stark reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1896 SLC37A4 Lilian Downie Marked gene: SLC37A4 as ready
Prepair 1000+ v1.1896 SLC37A4 Lilian Downie Gene: slc37a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1896 SLC37A4 Lilian Downie Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, 232220 (3) to Glycogen storage disease Ib MIM#232220; Glycogen storage disease Ic MIM#232240; Glycogen Storage Disease I MONDO:0002413
Prepair 1000+ v1.1895 SP110 Lilian Downie Marked gene: SP110 as ready
Prepair 1000+ v1.1895 SP110 Lilian Downie Gene: sp110 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1895 SP110 Lilian Downie Publications for gene: SP110 were set to
Prepair 1000+ v1.1894 SPR Lilian Downie Marked gene: SPR as ready
Prepair 1000+ v1.1894 SPR Lilian Downie Gene: spr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1894 SPR Lilian Downie Phenotypes for gene: SPR were changed from Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716
Prepair 1000+ v1.1893 SPR Lilian Downie Publications for gene: SPR were set to
Prepair 1000+ v1.1892 STRA6 Lilian Downie Marked gene: STRA6 as ready
Prepair 1000+ v1.1892 STRA6 Lilian Downie Gene: stra6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1892 STRA6 Lilian Downie Phenotypes for gene: STRA6 were changed from Microphthalmia MIM#601186 to Microphthalmia, isolated, with coloboma 8 MIM#601186; Microphthalmia, syndromic 9 MIM#601186
Prepair 1000+ v1.1891 STRA6 Lilian Downie Phenotypes for gene: STRA6 were changed from Microphthalmia, isolated, with coloboma 8, 601186 (3) to Microphthalmia MIM#601186
Prepair 1000+ v1.1890 STRA6 Lilian Downie Publications for gene: STRA6 were set to
Prepair 1000+ v1.1889 TRIM32 Lilian Downie Marked gene: TRIM32 as ready
Prepair 1000+ v1.1889 TRIM32 Lilian Downie Gene: trim32 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1889 TRIM32 Lilian Downie Phenotypes for gene: TRIM32 were changed from Muscular dystrophy, limb-girdle, type 2H, 254110 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110
Prepair 1000+ v1.1888 TRIM32 Lilian Downie Publications for gene: TRIM32 were set to
Prepair 1000+ v1.1887 TRPM6 Lilian Downie Marked gene: TRPM6 as ready
Prepair 1000+ v1.1887 TRPM6 Lilian Downie Gene: trpm6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1887 TRPM6 Lilian Downie Publications for gene: TRPM6 were set to
Prepair 1000+ v1.1886 TTI2 Lilian Downie Marked gene: TTI2 as ready
Prepair 1000+ v1.1886 TTI2 Lilian Downie Gene: tti2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1886 TTI2 Lilian Downie Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, 615541 (3) to Intellectual developmental disorder, autosomal recessive 39 MIM#615541
Prepair 1000+ v1.1885 TTI2 Lilian Downie Publications for gene: TTI2 were set to
Prepair 1000+ v1.1884 TTPA Lilian Downie Marked gene: TTPA as ready
Prepair 1000+ v1.1884 TTPA Lilian Downie Gene: ttpa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1884 TTPA Lilian Downie Publications for gene: TTPA were set to
Prepair 1000+ v1.1883 VARS Lilian Downie Marked gene: VARS as ready
Prepair 1000+ v1.1883 VARS Lilian Downie Gene: vars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1883 VARS Lilian Downie Phenotypes for gene: VARS were changed from Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802
Prepair 1000+ v1.1882 VARS Lilian Downie Publications for gene: VARS were set to
Prepair 1000+ v1.1881 WNT10B Lilian Downie Marked gene: WNT10B as ready
Prepair 1000+ v1.1881 WNT10B Lilian Downie Gene: wnt10b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1881 WNT10B Lilian Downie Publications for gene: WNT10B were set to
Prepair 1000+ v1.1880 CSPP1 Lilian Downie Marked gene: CSPP1 as ready
Prepair 1000+ v1.1880 CSPP1 Lilian Downie Gene: cspp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1880 CSPP1 Lilian Downie Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, 615636 (3) to Joubert syndrome 21 MIM#615636; MONDO:0014288
Prepair 1000+ v1.1879 CSPP1 Lilian Downie Publications for gene: CSPP1 were set to
Prepair 1000+ v1.1878 DNAH5 Lilian Downie Marked gene: DNAH5 as ready
Prepair 1000+ v1.1878 DNAH5 Lilian Downie Gene: dnah5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1878 DNAH5 Lilian Downie Publications for gene: DNAH5 were set to
Prepair 1000+ v1.1877 PEX5 Lilian Downie Marked gene: PEX5 as ready
Prepair 1000+ v1.1877 PEX5 Lilian Downie Gene: pex5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1877 PEX5 Lilian Downie Phenotypes for gene: PEX5 were changed from Peroxisome biogenesis disorder 2A (Zellweger), 214110 to Peroxisome Biogenesis Disorder, MONDO:0019234
Prepair 1000+ v1.1876 PEX5 Lilian Downie Publications for gene: PEX5 were set to 21031596; 7719337; 26220973; 20301621
Prepair 1000+ v1.1875 PEX5 Lilian Downie Publications for gene: PEX5 were set to
Prepair 1000+ v1.1874 PIGN Lilian Downie Marked gene: PIGN as ready
Prepair 1000+ v1.1874 PIGN Lilian Downie Gene: pign has been classified as Green List (High Evidence).
Prepair 1000+ v1.1874 PIGN Lilian Downie Publications for gene: PIGN were set to
Prepair 1000+ v1.1873 PLAA Lilian Downie Marked gene: PLAA as ready
Prepair 1000+ v1.1873 PLAA Lilian Downie Gene: plaa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1873 PLAA Lilian Downie Phenotypes for gene: PLAA were changed from Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527
Prepair 1000+ v1.1872 PLAA Lilian Downie Publications for gene: PLAA were set to
Prepair 1000+ v1.1871 PLCE1 Lilian Downie Marked gene: PLCE1 as ready
Prepair 1000+ v1.1871 PLCE1 Lilian Downie Gene: plce1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1871 PLCE1 Lilian Downie Publications for gene: PLCE1 were set to
Prepair 1000+ v1.1870 POLR3B Lilian Downie Marked gene: POLR3B as ready
Prepair 1000+ v1.1870 POLR3B Lilian Downie Gene: polr3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1870 POLR3B Lilian Downie Mode of pathogenicity for gene: POLR3B was changed from to None
Prepair 1000+ v1.1869 POLR3B Lilian Downie Publications for gene: POLR3B were set to
Prepair 1000+ v1.1868 POLR3B Karina Sandoval reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27512013, 23355746, 22036171, 22036172, 25339210, 33005949, 22855961, 33417887; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PLCE1 Karina Sandoval reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3,MIM#610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PLAA Karina Sandoval reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PIGN Karina Sandoval reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21493957, 24253414, 26364997, 26394714, 33193741, 32585529, 33528536, 38693247, 36322149; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PEX5 Karina Sandoval reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21031596, 7719337, 26220973, 20301621; Phenotypes: Peroxisome Biogenesis Disorder, MONDO:0019234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 DNAH5 Andrew Coventry reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627867, 11788826, 40033371; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 CSPP1 Andrew Coventry reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21 MIM#615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 WNT10B Andrew Coventry reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 16688749, 29427788, 24211389, 38058757, 39310870; Phenotypes: Split-hand/foot malformation 6 MIM#225300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 VARS Andrew Coventry reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30755616, 30755602, 26539891, 29691655, 30275004, 30755616; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy MIM#617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TTPA Andrew Coventry reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 7719340; Phenotypes: Ataxia with isolated vitamin E deficiency MIM#277460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TTI2 Andrew Coventry reviewed gene: TTI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32061250, 23956177, 31737043; Phenotypes: Intellectual developmental disorder, autosomal recessive 39 MIM#615541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRPM6 Andrew Coventry reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35903165, 18818955; Phenotypes: Hypomagnesemia 1, intestinal MIM#602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRIM32 Andrew Coventry reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: None; Publications: 9634523, 10399877, 17994549, 25351777, 19492423, 19303295, 31309175; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 STRA6 Andrew Coventry reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977, 17503335, 19213032, 26373900, 30880327, 26373900, 25457163; Phenotypes: Microphthalmia, isolated, with coloboma 8 MIM#601186, Microphthalmia, syndromic 9 MIM#601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SPR Andrew Coventry reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443, 26131547, 33903016, 31777525, 16650784, 21431957, 28189489; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SP110 Andrew Coventry reviewed gene: SP110: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301448, 16648851, 23448538, 22621957, 32395362; Phenotypes: Hepatic venoocclusive disease with immunodeficiency MIM#235550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SLC37A4 Andrew Coventry reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207, 9675154, 9758626; Phenotypes: Glycogen storage disease Ib MIM#232220, Glycogen storage disease Ic MIM#232240, Glycogen Storage Disease I MONDO:0002413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SLC12A5 Andrew Coventry reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333769, 27436767, 24928908, 30763027, 24668262; Phenotypes: Developmental and epileptic encephalopathy 34 MIM#616645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SEC23B Andrew Coventry reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418, 26522472, 27471141, 37373084; Phenotypes: Dyserythropoietic anemia, congenital, type II MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RNASET2 Andrew Coventry reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RNASEH2A Andrew Coventry reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335, 20301648, 29239743, 16845400, 24183309, 35551623; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333, RNASEH2A-related type 1 interferonopathy MONDO:0700259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RARB Andrew Coventry reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30880327, 30281527, 24075189, 27120018, 25457163, 17506106; Phenotypes: Microphthalmia, syndromic 12 MIM#615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 RAB23 Andrew Coventry reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome MIM#201000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PUS7 Andrew Coventry reviewed gene: PUS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30526862, 30778726, 31583274, 35144859; Phenotypes: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MIM#618342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PPIB Andrew Coventry reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX MIM#259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OPA1 Cassandra Muller reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25012220; Phenotypes: Behr syndrome, 210000 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PDP1 Karina Sandoval reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260, 31392110, 19184109; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency,MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NUBPL Cassandra Muller changed review comment from: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression.; to: Well established gene-disease association. Severe, multi system, mitochondrial condition with variable severity and progression.
Prepair 1000+ v1.1868 NUBPL Cassandra Muller changed review comment from: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression. Onset in infancy or childhood.; to: Well established gene-disease association. Severe, mitochondrial condition with variable severity and progression.
Prepair 1000+ v1.1868 NUBPL Cassandra Muller reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NR2E3 Cassandra Muller Deleted their review
Prepair 1000+ v1.1868 NR2E3 Cassandra Muller reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825, 23562752; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NDUFS4 Cassandra Muller reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval Deleted their review
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval changed review comment from: Unsure if severe enough to include in panel.

MM- Tricky - Hyperphagia & obesity but associated metabolic problems can be severe includeing cases of death in childhood.

PMID:27187081 - some patients displayed morbid obesity and severe hyperphagia, other subjects were only moderately obese. BMI rises from 2 years and patients became obese from early childhood. However, the extreme obesity of the index case at 3 years of age has not been reported in any subsequent patients. Presentation is severe malabsorptive diarrhea, becoming clinically evident within the first 3 months of life. This can be so severe as to lead to a metabolic acidosis. After the age of 2 years, the severity of the malabsorption appears to spontaneously improve, and many children can discontinue
parenteral feeding.

PMID: 27288825 - Nutrition significantly diminshed beyond 2 years and patients can thrive despite the presence of persistent diarrhea that is lifelong and malabsorption throughout life, and early in life will require intravenous support
that may be tapered off as the child ages.; to: Unsure if severe enough to include in panel.

MM- Tricky - Hyperphagia & obesity but associated metabolic problems can be severe includeing cases of death in childhood.

PMID:27187081 - some patients displayed morbid obesity and severe hyperphagia, other subjects were only moderately obese. BMI rises from 2 years and patients became obese from early childhood. However, the extreme obesity of the index case at 3 years of age has not been reported in any subsequent patients. Presentation is severe malabsorptive diarrhea, becoming clinically evident within the first 3 months of life. This can be so severe as to lead to a metabolic acidosis. After the age of 2 years, the severity of the malabsorption appears to spontaneously improve, and many children can discontinue
parenteral feeding.

PMID: 27288825 - Nutrition significantly diminshed beyond 2 years and patients can thrive despite the presence of persistent diarrhea that is lifelong and malabsorption throughout life, and early in life will require intravenous support
that may be tapered off as the child ages.
Prepair 1000+ v1.1868 NDE1 Cassandra Muller reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30637988, 21529751, 34562061; Phenotypes: Lissencephaly 4 (with microcephaly), 614019 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MMP2 Cassandra Muller reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431697, 15691365, 17059372, 17400654; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PCSK1 Karina Sandoval reviewed gene: PCSK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 14617756, 17595246, 27187081, 27288825; Phenotypes: Endocrinopathy due to proprotein convertase 1/3 deficiency,MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PAH Karina Sandoval reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27604308, 3008810, 31636599, 32141105; Phenotypes: Phenylketonuria,MIM#261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OTUD6B Karina Sandoval reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies,MIM#617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 OPN1LW Karina Sandoval reviewed gene: OPN1LW: Rating: RED; Mode of pathogenicity: None; Publications: 25168334, 32860923, 8213841; Phenotypes: Blue cone monochromacy,MIM#303700, Colorblindness, protan,MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 MED12 Melanie Marty reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33244166, 32174975, 30006928, 27312080; Phenotypes: MED12-related intellectual disability syndrome, MONDO:0100000; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1868 HYLS1 Melanie Marty reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 39626953, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680), Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FHL1 Melanie Marty changed review comment from: The FHL1 gene is associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle (PMID: 21310615, 40017287).

Well-established gene-disease association. FHL1 encodes 3 alternatively spliced isoforms - FHL1A, FHL1B, FHL1C composed of different LIM domains. FHL1A is predominant in muscle. Pathogenic variants affected isoform expression differently depending on location in alternatively spliced exons. Location of the variant appears to be related to severity of phenotype. Loss of function is the mechanism of disease.

Reducing body myopathy (RBM) PMID: 18179901, 19716112, 18274675, 19181672, 25274776, 34366191 - XLD inheritance with clinical spectrum that includes severe early-onset to later-onset less progressive conditions including X-linked scapuloperoneal muscular dystrophy & X-linked myopathy with postural muscle atrophy. Pathogenic variants mainly located in more proximal exons (3-6). Fhl1 W122S knock-in mouse model has late-onset mild myopathy.

XL-EDMD PMID: 19716112, 20186852, 20301609 - at least 7 families reported with XLD inheritance (female heterozygous carriers were asymptomatic or had mild myopathy and/or cardiomyopathy). EDMD-associated variants are localized in the distal exons (5-8) and associated with reduced function.; to: The FHL1 gene is associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle (PMID: 21310615, 40017287).

Well-established gene-disease association. FHL1 encodes 3 alternatively spliced isoforms - FHL1A, FHL1B, FHL1C composed of different LIM domains. FHL1A is predominant in muscle. Pathogenic variants affected isoform expression differently depending on location in alternatively spliced exons. Location of the variant appears to be related to severity of phenotype. Loss of function is the mechanism of disease.

Reducing body myopathy (RBM) PMID: 18179901, 19716112, 18274675, 19181672, 25274776, 34366191 - XLD inheritance with clinical spectrum that includes severe early-onset to later-onset less progressive conditions including X-linked scapuloperoneal muscular dystrophy & X-linked myopathy with postural muscle atrophy. Pathogenic variants mainly located in more proximal exons (3-6). Fhl1 W122S knock-in mouse model has late-onset mild myopathy. Female carriers may experience mild proximal muscle weakness or be asymptomatic.

XL-EDMD PMID: 19716112, 20186852, 20301609 - at least 7 families reported with XLD inheritance (female heterozygous carriers were asymptomatic or had mild myopathy and/or cardiomyopathy). EDMD-associated variants are localized in the distal exons (5-8) and associated with reduced function.
Prepair 1000+ v1.1868 FHL1 Melanie Marty reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672, 21310615, 40017287; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1868 MFN2 Melanie Marty reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15064763, 15549395, 16437557, 20008656; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087, Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PDE6B Melanie Marty reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 8394174, 8075643, 17044014, 7599633, 18854872, 33673512; Phenotypes: Retinitis pigmentosa-40, MIM#613801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SCN9A Melanie Marty reviewed gene: SCN9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18060017; Phenotypes: Insensitivity to pain, congenital, MIM# 243000, Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PNPLA6 Andrew Coventry reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 38735647, 25480986, 33818269, 32758583, 30097146; Phenotypes: Boucher-Neuhauser syndrome MIM#215470, Oliver-McFarlane syndrome MIM#275400, Spastic paraplegia 39, autosomal recessive MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 PAK3 Andrew Coventry reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9731525, 10946356, 12884430, 17853471, 18523455, 24556213, 25666757, 27753653, 28481730, 28126652; Phenotypes: Intellectual developmental disorder, X-linked 30 MIM#300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 NAGA Andrew Coventry reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 11313741, 31468281, 15619430, 8782044; Phenotypes: Schindler disease, type I MIM#609241, Schindler disease, type III MIM#609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 SEC23A Melanie Marty changed review comment from: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Boyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

Boyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.

Wang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.

Cisarova et al 2022 (PMID: 34580982) 1 x patient with het missense variant inherited from his affected father. Shown to be de novo in the father.

Minale et al 2024 (PMID: 38275611): 1 x patient with de novo het missense variant

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)

Summary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain; to: SEC23A is an essential component of coat protein complex II (COPII)-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex.

Boyadjiev et al 2006 (PMID:16980979): One family was reported with a homozygous missense variant and craniolenticulosutural dysplasia (CLSD), with some functional studies supporting pathogenicity.

Boyadjiev et al 2011 (PMID: 21039434): The same authors as above later reported another individual with similar phenotype with a paternally inherited heterozygous missense variant, this variant has 91 hets in gnomAD and the father was unaffected. They suggest digenic inheritance but found no other variants in 3 candidate genes.

Wang et al 2023 (PMID: 37828500): 2 x compound heterozygous missense variants were identified in a patient with CLSD.

Cisarova et al 2022 (PMID: 34580982) 1 x patient with CLSD and a het missense variant inherited from his affected father. Shown to be de novo in the father.

Minale et al 2024 (PMID: 38275611): 1 x patient with CLSD and a de novo het missense variant

Zebrafish models lend some support to the gene-disease association (PMID:16980979, 16980978)

Summary: 2 reports of AR inheritance, 2 reports of AD inheritance, 1 uncertain
Prepair 1000+ v1.1868 SEC23A Melanie Marty edited their review of gene: SEC23A: Changed rating: RED; Changed publications: 16980979, 21039434, 16980978, 27148587, 37828500, 34580982, 38275611
Prepair 1000+ v1.1868 SEC23A Melanie Marty reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587, 37828500, 34580982, PMID: 38275611; Phenotypes: Craniolenticulosutural dysplasia, MIM#607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MUSK Andrew Coventry reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350, 15496425, 19949040, 20371544, 32253145; Phenotypes: Fetal akinesia deformation sequence 1 MIM#208150, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MTTP Andrew Coventry reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380, 34078172, 34052173, 33258201; Phenotypes: Abetalipoproteinemia MIM#200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MTHFD1 Andrew Coventry reviewed gene: MTHFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414565, 19033438; Phenotypes: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MIM#617780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MKS1 Andrew Coventry reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17377820, 24886560, 19776033, 33193692, 27570071, 27377014, 18327255, 24608809; Phenotypes: Bardet-Biedl syndrome 13 MIM#615990, Joubert syndrome 28 MIM#617121, Meckel syndrome 1 MIM#249000, Ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MBTPS2 Andrew Coventry reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19361614, 27380894, 34902613, 14708109, 22105905, 24313295, 19689518, 24090718, 21600032; Phenotypes: IFAP syndrome with or without BRESHECK syndrome MIM#308205, Osteogenesis imperfecta, type XIX MIM#301014; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 LYST Andrew Coventry reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517; Phenotypes: Chediak-Higashi syndrome MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 LRMDA Andrew Coventry reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 37053367, 23395477, 38555393; Phenotypes: Albinism, oculocutaneous, type VII MIM#615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 LARS2 Andrew Coventry reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia MIM#617021, Perrault syndrome 4 MIM#615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KIF7 Andrew Coventry reviewed gene: KIF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21552264, 36580738, 21633164, 19666503, 30445565, 26648833, 26349186, 26174511, 25714560; Phenotypes: Al-Gazali-Bakalinova syndrome MIM#607131, Hydrolethalus syndrome 2 MIM#614120, Acrocallosal syndrome MIM#200990, Joubert syndrome 12 MIM#200990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KIAA1109 Andrew Coventry reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834, 25558065; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 KCNV2 Andrew Coventry reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909397, 18235024, 21882291, 15722315, 30820446, 21882291, 23115240; Phenotypes: Inherited retinal dystrophy MONDO:0019118, Retinal cone dystrophy 3B MIM#610356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 INPP5K Andrew Coventry reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 IFT172 Andrew Coventry reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183, 26763875, 25168386, 24140113, 25168386; Phenotypes: Bardet-Biedl syndrome 20 MIM#619471, Retinitis pigmentosa 71 MIM#616394, Short-rib thoracic dysplasia 10 with or without polydactyly MIM#615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 IBA57 Andrew Coventry reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 25609768, 28913435, 28671726, 30258207; Phenotypes: Mitochondrial disease MONDO:0044970, Multiple mitochondrial dysfunctions syndrome 3 MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HSPD1 Andrew Coventry reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4 MIM#612233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HPS3 Andrew Coventry reviewed gene: HPS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11455388, 31880485, 31621111, 30990103; Phenotypes: Hermansky-Pudlak syndrome 3 MIM#614072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HAMP Andrew Coventry reviewed gene: HAMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12469120, 12490283, 34828384, 15198949; Phenotypes: Hemochromatosis, type 2B MIM#613313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 HADH Andrew Coventry reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 1835339, 10347277, 10931422; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 GLDN Andrew Coventry reviewed gene: GLDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616481, 32812332, 28726266, 35806855; Phenotypes: Lethal congenital contracture syndrome 11 MIM#617194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 GBA Andrew Coventry reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal MIM#608013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FTSJ1 Andrew Coventry reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: Intellectual developmental disorder, X-linked 9 MIM#309549, X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 FRAS1 Andrew Coventry reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281, 16894541, 17163535; Phenotypes: Fraser syndrome 1 MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FKBP14 Andrew Coventry reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FGD4 Andrew Coventry reviewed gene: FGD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17564959, 31152969, 28847448, 28543957, 17564972; Phenotypes: Charcot-Marie-Tooth disease, type 4H MIM#609311, Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FANCL Andrew Coventry reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012, 12973351, 31513304; Phenotypes: Fanconi anemia, complementation group L MIM#614083; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FANCD2 Andrew Coventry reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301575, 17436244, 25703294, 23613520; Phenotypes: Fanconi anemia, complementation group D2 MIM#227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 FAM20C Andrew Coventry reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 32299476, 20825432, 33676444, 32833257; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 EIF2B3 Andrew Coventry reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 POLE Andrew Coventry gene: POLE was added
gene: POLE was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519; 23230001; 25948378; 36071887
Phenotypes for gene: POLE were set to IMAGE-I syndrome MIM#618336; FILS syndrome MIM#615139
Review for gene: POLE was set to GREEN
Added comment: IMAGE-I Syndrome
Autosomal recessive disorder characterised by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Patients exhibit distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency.
Well established gene-disease association. Reported in greater than 10 families.
Note recurrent intronic variant, c.1686+32C-G (intron 15) in IMAGE-I, found in combination with multiple other variants.

FILS syndrome
FILS syndrome is characterised by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature.
PMID: 23230001 - French consanguineoius kindred: 11 affected individuals displayed mild facial dysmorphism, immunodeficiency, livedo, and short stature. 3 additional members displayed two or three of these four features. Homozygous for splicing site variant: c.4444+3A>G.
PMID: 25948378 - Palestinian girl, with same homozygous variant as reported in French family.
PMID: 36071887 - 4y.o. Chinese boy with c.5811 + 2T > C and c.2006G > A variants.
PMID: 32705701 - 6y.o. hispanic boy reported with homozygous c.100C>T(p.Arg34Cys
Total of 14 affected individuals across 4 families.
Sources: Literature
Prepair 1000+ v1.1868 CHMP1A Andrew Coventry gene: CHMP1A was added
gene: CHMP1A was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP1A were set to 23023333; 37789895
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8 MIM#614961
Review for gene: CHMP1A was set to AMBER
Added comment: Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterised by severe psychomotor impediment, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum.

Zebrafish model present.
PMID: 23023333 - Three families reported, 2 variants; two families likely with founder effect.
PMID: 37789895 - describe novel variants in an affected individual, one is deletion of exon 1, other is c.53 T > C (p.Leu18Pro).
Total 4 families now reported with 4 variants.
Sources: Literature
Prepair 1000+ v1.1868 POLR1D Andrew Coventry gene: POLR1D was added
gene: POLR1D was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR1D were set to 21131976; 24603435; 27448281; 25790162
Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 MIM#613717
Review for gene: POLR1D was set to AMBER
Added comment: Treacher Collins syndrome is a disorder of craniofacial development characterised by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.

Currently, only one study reporting AR TCS, 1 pathogenic variant in 4 affected individuals, across 2 unrelated consanguineous families. PMID: 24603435.
Adding gene, requiring further evidence in humans for consideration for inclusion in screening of AR TCS.
Sources: Literature
Prepair 1000+ v1.1868 NUP107 Karina Sandoval reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 28280135, 28117080, 30179222, 25558065, 26411495; Phenotypes: Galloway-Mowat syndrome 7, MIM#618348, Nephrotic syndrome, type 11, MIM#616730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 NR0B1 Karina Sandoval reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19508677, 26030781; Phenotypes: Adrenal hypoplasia, congenital, MIM#300200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1868 NDUFV2 Karina Sandoval reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, MIM#618229, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 MAPKBP1 Karina Sandoval reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 COL11A2 Melanie Marty edited their review of gene: COL11A2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 COL11A2 Melanie Marty changed review comment from: The gene-disease association with otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part of the phenotype, both mono-allelic and bi-allelic variants are reported. Otospondylomegaepiphyseal dysplasia AD (OSMED, MIM#184840) is also known as non-ocular Stickler syndrome or Type III Stickler syndrome.

There are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), and rated as MODERATE by ClinGen for AR and DEFINITIVE for AD. Bi-allelic variants are associated with severe pre lingual deafness.

Fibrochondrogenesis 2 a severe skeletal dysplasia is associated with AD and AR.; to: The gene-disease association with otospondylomegaepiphyseal dysplasia is well established (DEFINITIVE) by ClinGen, and deafness is part of the phenotype, both mono-allelic and bi-allelic variants are reported. Otospondylomegaepiphyseal dysplasia AD (OSMED, MIM#184840) is also known as non-ocular Stickler syndrome or Type III Stickler syndrome.

There are also a number of reports of mono-allelic and bi-allelic variants associated with isolated deafness (PMIDs: 10581026;25633957;16033917), and rated as MODERATE by ClinGen for AR and DEFINITIVE for AD. Bi-allelic variants are associated with severe pre lingual deafness.

Fibrochondrogenesis 2 a severe skeletal dysplasia is associated with AD and AR.

Only including the AR phenotypes for this screening panel.
Prepair 1000+ v1.1868 COL11A2 Melanie Marty reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10581026, 25633957, 16033917, 25240749, 22796475, 20112039; Phenotypes: Deafness, autosomal recessive 53 MIM#609706, Fibrochondrogenesis 2 MIM#614524, Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1868 TRIT1 Zornitza Stark Marked gene: TRIT1 as ready
Prepair 1000+ v1.1868 TRIT1 Zornitza Stark Gene: trit1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1868 TRIT1 Zornitza Stark Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive to Combined oxidative phosphorylation deficiency 35 MIM#617873
Prepair 1000+ v1.1867 TRIT1 Zornitza Stark Publications for gene: TRIT1 were set to
Prepair 1000+ v1.1866 NEB Zornitza Stark Publications for gene: NEB were set to 27228465
Prepair 1000+ v1.1865 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Prepair 1000+ v1.1865 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1865 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5, 259720 (3) to Osteopetrosis, autosomal recessive 5, MIM#259720
Prepair 1000+ v1.1864 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Prepair 1000+ v1.1863 OSTM1 Zornitza Stark reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1863 PCDH15 Zornitza Stark Marked gene: PCDH15 as ready
Prepair 1000+ v1.1863 PCDH15 Zornitza Stark Gene: pcdh15 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1863 PCDH15 Zornitza Stark Phenotypes for gene: PCDH15 were changed from Usher syndrome, type 1F, 602083 (3) to Usher syndrome, type 1F, MIM# 602083
Prepair 1000+ v1.1862 PCDH15 Zornitza Stark Publications for gene: PCDH15 were set to
Prepair 1000+ v1.1861 SLC39A8 Zornitza Stark Marked gene: SLC39A8 as ready
Prepair 1000+ v1.1861 SLC39A8 Zornitza Stark Gene: slc39a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1861 SLC39A8 Zornitza Stark Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive to Congenital disorder of glycosylation, type IIn MIM#616721
Prepair 1000+ v1.1860 SLC39A8 Zornitza Stark Publications for gene: SLC39A8 were set to
Prepair 1000+ v1.1859 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Prepair 1000+ v1.1859 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1859 SRD5A3 Zornitza Stark Phenotypes for gene: SRD5A3 were changed from Congenital disorder of glycosylation, type Iq, 612379 (3) to Congenital disorder of glycosylation, type Iq MIM#612379; Kahrizi syndrome#612713; SRD5A3-congenital disorder of glycosylation (MONDO:0012885)
Prepair 1000+ v1.1858 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Prepair 1000+ v1.1857 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Prepair 1000+ v1.1857 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1857 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive to Pontocerebellar hypoplasia, type 11, MIM#617695
Prepair 1000+ v1.1856 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Prepair 1000+ v1.1855 LRSAM1 Zornitza Stark Tag for review tag was added to gene: LRSAM1.
Prepair 1000+ v1.1855 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Prepair 1000+ v1.1855 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1855 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, 259700 (3) to Osteopetrosis, autosomal recessive 1 MIM#259700
Prepair 1000+ v1.1854 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Prepair 1000+ v1.1853 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Prepair 1000+ v1.1853 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1853 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) to Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Prepair 1000+ v1.1852 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Prepair 1000+ v1.1851 PGAP1 Zornitza Stark Marked gene: PGAP1 as ready
Prepair 1000+ v1.1851 PGAP1 Zornitza Stark Gene: pgap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1851 PGAP1 Zornitza Stark Phenotypes for gene: PGAP1 were changed from Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802
Prepair 1000+ v1.1850 PGAP1 Zornitza Stark Publications for gene: PGAP1 were set to
Prepair 1000+ v1.1849 POC1A Zornitza Stark Marked gene: POC1A as ready
Prepair 1000+ v1.1849 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1849 POC1A Zornitza Stark Phenotypes for gene: POC1A were changed from Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3) to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813
Prepair 1000+ v1.1848 POC1A Zornitza Stark Publications for gene: POC1A were set to
Prepair 1000+ v1.1847 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Prepair 1000+ v1.1847 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1847 PPA2 Zornitza Stark Phenotypes for gene: PPA2 were changed from Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive to Sudden cardiac failure, infantile, MIM#617222; Sudden cardiac failure, alcohol-induced, MIM#617223
Prepair 1000+ v1.1846 PPA2 Zornitza Stark Publications for gene: PPA2 were set to
Prepair 1000+ v1.1845 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Prepair 1000+ v1.1845 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1845 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) to Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085; Cholestasis, progressive familial intrahepatic, 12 MIM#620010; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009
Prepair 1000+ v1.1844 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Prepair 1000+ v1.1843 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Prepair 1000+ v1.1843 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1843 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
Prepair 1000+ v1.1842 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Prepair 1000+ v1.1841 PRX Zornitza Stark Marked gene: PRX as ready
Prepair 1000+ v1.1841 PRX Zornitza Stark Gene: prx has been classified as Green List (High Evidence).
Prepair 1000+ v1.1841 PRX Zornitza Stark Phenotypes for gene: PRX were changed from Dejerine-Sottas disease, 145900 (3) to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900
Prepair 1000+ v1.1840 PRX Zornitza Stark Publications for gene: PRX were set to
Prepair 1000+ v1.1839 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Prepair 1000+ v1.1839 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1839 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Prepair 1000+ v1.1838 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Prepair 1000+ v1.1837 QDPR Zornitza Stark Marked gene: QDPR as ready
Prepair 1000+ v1.1837 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1837 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Prepair 1000+ v1.1836 QDPR Zornitza Stark Publications for gene: QDPR were set to
Prepair 1000+ v1.1835 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Prepair 1000+ v1.1835 RAB27A Zornitza Stark Gene: rab27a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1835 RAB27A Zornitza Stark Phenotypes for gene: RAB27A were changed from Griscelli syndrome, type 2, 607624 (3) to Griscelli syndrome, type 2, MIM# 607624
Prepair 1000+ v1.1834 RAB27A Zornitza Stark Publications for gene: RAB27A were set to
Prepair 1000+ v1.1833 RAD50 Zornitza Stark Marked gene: RAD50 as ready
Prepair 1000+ v1.1833 RAD50 Zornitza Stark Gene: rad50 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1833 RAD50 Zornitza Stark Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, 613078 (3) to Nijmegen breakage syndrome-like disorder, MIM# 613078
Prepair 1000+ v1.1832 RAD50 Zornitza Stark Publications for gene: RAD50 were set to
Prepair 1000+ v1.1831 RPGRIP1L Zornitza Stark Marked gene: RPGRIP1L as ready
Prepair 1000+ v1.1831 RPGRIP1L Zornitza Stark Gene: rpgrip1l has been classified as Green List (High Evidence).
Prepair 1000+ v1.1831 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Meckel syndrome 5, 611561 (3) to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Ciliopathy, RPGRIP1L-related, MONDO:0005308
Prepair 1000+ v1.1830 RPGRIP1L Zornitza Stark Publications for gene: RPGRIP1L were set to
Prepair 1000+ v1.1829 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Prepair 1000+ v1.1829 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1829 SLC1A4 Zornitza Stark Publications for gene: SLC1A4 were set to
Prepair 1000+ v1.1828 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Prepair 1000+ v1.1828 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1828 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from Cholestasis, progressive familial intrahepatic 2, 601847 (3) to Cholestasis, progressive familial intrahepatic 2, MIM# 601847
Prepair 1000+ v1.1827 ABCB11 Zornitza Stark Publications for gene: ABCB11 were set to
Prepair 1000+ v1.1826 FITM2 Zornitza Stark Tag for review tag was added to gene: FITM2.
Prepair 1000+ v1.1826 FITM2 Melanie Marty edited their review of gene: FITM2: Changed publications: 28067622, 30214770, 30288795, 35754111
Prepair 1000+ v1.1826 FITM2 Melanie Marty reviewed gene: FITM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28067622, 30214770, 30288795, 28067622, 35754111; Phenotypes: Siddiqi syndrome, MIM#618635; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 ABCB11 Melanie Marty reviewed gene: ABCB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 16871584, 23141890, 9806540, 15300568, 11172067; Phenotypes: Cholestasis, progressive familial intrahepatic 2, MIM# 601847, Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SLC1A4 Melanie Marty reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SETX Melanie Marty reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23129421; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RPGRIP1L Melanie Marty reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Ciliopathy, RPGRIP1L-related, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RAD50 Melanie Marty reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409520, 32212377, 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 RAB27A Melanie Marty reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32374962, 32107531; Phenotypes: Griscelli syndrome, type 2, MIM# 607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 QDPR Melanie Marty reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PUS1 Melanie Marty reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PRX Melanie Marty reviewed gene: PRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11133365, 11157804, 15197604, 21079185, 22847150, 10839370, 32460404, 31523542, 31426691; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PRDM12 Melanie Marty reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 VPS33B Michelle Torres reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31479177, 30561130, 28017832; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 MIM#208085, Cholestasis, progressive familial intrahepatic, 12 MIM#620010, Keratoderma-ichthyosis-deafness syndrome, autosomal recessive MIM#620009; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PPA2 Melanie Marty reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, infantile, MIM#617222, Sudden cardiac failure, alcohol-induced, MIM#617223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 POC1A Melanie Marty reviewed gene: POC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22840364, 22840363, 26374189, 26162852, 26791357; Phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM# 614813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PGAP1 Melanie Marty reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 PEX7 Melanie Marty reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: 11781871, 12522768, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 TCIRG1 Michelle Torres reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1 MIM#259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 LRSAM1 Melanie Marty changed review comment from: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life.

Marking as red for carrier screening due to age of onset and limited evidence for recessive disease.; to: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life. Peak age of onset in second decade (range childhood to 76 years) (OMIM).

Marking as red for carrier screening due to age of onset and limited evidence for recessive disease.
Prepair 1000+ v1.1826 LRSAM1 Melanie Marty changed review comment from: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life.; to: Only a single family reported with recessive inheritance.

Over 30 families reported with dominant disease.

Age of onset typically between the second and fifth decades of life.

Marking as red for carrier screening due to age of onset and limited evidence for recessive disease.
Prepair 1000+ v1.1826 LRSAM1 Melanie Marty edited their review of gene: LRSAM1: Changed publications: 38330802, 33568173
Prepair 1000+ v1.1826 TBC1D23 Michelle Torres reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11 MIM#617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SRD5A3 Michelle Torres reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424323, 20301507; Phenotypes: Congenital disorder of glycosylation, type Iq MIM#612379, Kahrizi syndrome#612713, SRD5A3-congenital disorder of glycosylation (MONDO:0012885); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 SLC39A8 Michelle Torres reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 37023243, 26637978, 26637979, 29453449; Phenotypes: Congenital disorder of glycosylation, type IIn MIM#616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1826 WDR35 Zornitza Stark Marked gene: WDR35 as ready
Prepair 1000+ v1.1826 WDR35 Zornitza Stark Gene: wdr35 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1826 WDR35 Zornitza Stark Phenotypes for gene: WDR35 were changed from Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) to Cranioectodermal dysplasia 2 MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091
Prepair 1000+ v1.1825 WDR35 Zornitza Stark Publications for gene: WDR35 were set to
Prepair 1000+ v1.1824 WISP3 Zornitza Stark Marked gene: WISP3 as ready
Prepair 1000+ v1.1824 WISP3 Zornitza Stark Gene: wisp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1824 WISP3 Zornitza Stark Phenotypes for gene: WISP3 were changed from Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) to Progressive pseudorheumatoid dysplasia MIM#208230
Prepair 1000+ v1.1823 WISP3 Zornitza Stark Publications for gene: WISP3 were set to
Prepair 1000+ v1.1822 WISP3 Zornitza Stark Tag new gene name tag was added to gene: WISP3.
Prepair 1000+ v1.1822 PCDH15 Melanie Marty reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: None; Publications: 11398101, 11487575, 11138007, 12782354, 16260500, 14570705, 25930172, 28281779; Phenotypes: Usher syndrome, type 1F, MIM# 602083, Deafness, autosomal recessive 23, MIM# 609533; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 PCCA Melanie Marty edited their review of gene: PCCA: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 PCCA Melanie Marty reviewed gene: PCCA: Rating: ; Mode of pathogenicity: None; Publications: 17966092, 10101253, 9887338; Phenotypes: Propionicacidemia, MIM#606054; Mode of inheritance: None
Prepair 1000+ v1.1822 OSTM1 Melanie Marty reviewed gene: OSTM1: Rating: ; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5, MIM#259720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 NEB Melanie Marty reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 10051637, 22367672, 26578207, 33376055; Phenotypes: Nemaline myopathy 2, autosomal recessive 256030, Arthrogryposis multiplex congenita 6, MIM# 619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRIT1 Michelle Torres reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36047296, 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35 MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 WISP3 Michelle Torres reviewed gene: WISP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26610319; Phenotypes: Progressive pseudorheumatoid dysplasia MIM#208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 WDR35 Michelle Torres reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: None; Publications: 33421337, 29134781, 28870638, 26691894, 24027799, 21473986; Phenotypes: Cranioectodermal dysplasia 2 MIM#613610, Short-rib thoracic dysplasia 7 with or without polydactyly MIM#614091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 NDP Melanie Marty reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23444378, 8268931, 17325173, 27217716, 29181528, 31827910; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1822 NCF2 Melanie Marty reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27178966, 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MYD88 Melanie Marty reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MSTO1 Melanie Marty reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MICU1 Melanie Marty reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 VIPAS39 Michelle Torres reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2 MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRMT10A Michelle Torres reviewed gene: TRMT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24204302, 25053765, 33448213, 33067246, 26535115, 26526202, 26297882; Phenotypes: Microcephaly, short stature, and impaired glucose metabolism 1 MIM#616033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRAPPC12 Michelle Torres reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32369837, 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity MIM#617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SCNN1B Crystle Lee reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26807262; Phenotypes: Pseudohypoaldosteronism, type IB2, autosomal recessive, MIM#620125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TRAPPC11 Michelle Torres reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 38564972; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM#615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SLC30A10 Crystle Lee reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38283630, 34877518, 22341971; Phenotypes: Hypermanganesemia with dystonia 1, MIM#613280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 SLC7A7 Crystle Lee reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17764084; Phenotypes: Lysinuric protein intolerance, MIM#222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 STIM1 Crystle Lee reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 20876309, 25935105; Phenotypes: Immunodeficiency 10, MIM#612783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LRSAM1 Melanie Marty reviewed gene: LRSAM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 38330802, 33568173; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TPP1 Michelle Torres reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31283065; Phenotypes: Ceroid lipofuscinosis, neuronal, 2 MIM#204500, Spinocerebellar ataxia, autosomal recessive 7 MIM#609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TOE1 Michelle Torres reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28092684, 36738896; Phenotypes: Pontocerebellar hypoplasia, type 7 MIM#614969; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LONP1 Melanie Marty reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, MIM#600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 TBC1D20 Michelle Torres reviewed gene: TBC1D20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239381, 32740904, 32162791; Phenotypes: Warburg micro syndrome 4 MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 XYLT2 Michelle Torres reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34925453, 26027496, 26987875, 30891060, 28484880; Phenotypes: Spondyloocular syndrome MIM#605822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 CLN3 Lilian Downie Marked gene: CLN3 as ready
Prepair 1000+ v1.1822 CLN3 Lilian Downie Added comment: Comment when marking as ready: Consider exclusion (Amber) as we will miss a high proportion of cases due to the founder variant being a 1kb deletion
Prepair 1000+ v1.1822 CLN3 Lilian Downie Gene: cln3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1822 CLN3 Lilian Downie Tag for review tag was added to gene: CLN3.
Prepair 1000+ v1.1822 XRCC4 Michelle Torres reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 25728776, 25872942; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MLC1 Kate Scarff reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11254442, 18757878, 20301707, 29661901; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 USH1G Michelle Torres reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301442; Phenotypes: Usher syndrome, type 1G MIM#606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 METTL23 Kate Scarff reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24501276, 24626631, 39152716, 32878022, 32439618, 32067349; Phenotypes: Intellectual developmental disorder, autosomal recessive 44, MIM #615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 UBE3B Michelle Torres reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23200864, 23200864, 34012380, 32949109, 27763745; Phenotypes: Kaufman oculocerebrofacial syndrome MIM#244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 MEGF10 Kate Scarff reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22101682, 22371254, 39654599, 36349186, 35370044, 34828389; Phenotypes: Congenital myopathy 10A, severe variant, MIM #614399, Congenital myopathy 10B, mild variant, MIM #620249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LRAT Kate Scarff reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11381255, 18055821, 22570351, 29973277, 24625443, 31448181; Phenotypes: Retinal dystrophy, early-onset severe, Leber congenital amaurosis 14, Retinitis pigmentosa, juvenile, all under MIM #613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1822 LMBR1 Zornitza Stark Marked gene: LMBR1 as ready
Prepair 1000+ v1.1822 LMBR1 Zornitza Stark Gene: lmbr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1822 LMBR1 Zornitza Stark Phenotypes for gene: LMBR1 were changed from Acheiropody, 200500 (3) to Acheiropody, MIM #200500
Prepair 1000+ v1.1821 LMBR1 Zornitza Stark Publications for gene: LMBR1 were set to
Prepair 1000+ v1.1820 LMBR1 Kate Scarff reviewed gene: LMBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11090342, 10780921, 33863876; Phenotypes: Acheiropody, MIM #200500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1820 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786 to Epidermolysis bullosa, junctional 3B, severe MIM #619786; Epidermolysis bullosa, junctional 3A, intermediate MIM #619785
Prepair 1000+ v1.1819 LAMC2 Zornitza Stark Publications for gene: LAMC2 were set to
Prepair 1000+ v1.1818 LAMC2 Kate Scarff reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32017015, 11810295, 24533970, 20301304; Phenotypes: Epidermolysis bullosa, junctional 3B, severe MIM #619786, Epidermolysis bullosa, junctional 3A, intermediate MIM #619785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1818 TSPAN7 Michelle Torres reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 26350204, 36625203; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1818 PDHX Zornitza Stark Marked gene: PDHX as ready
Prepair 1000+ v1.1818 PDHX Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1818 PDHX Zornitza Stark Gene: pdhx has been removed from the panel.
Prepair 1000+ v1.1818 PDHX Zornitza Stark Tag for review tag was added to gene: PDHX.
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Added comment: Comment when marking as ready: For review. Likely meets criteria for inclusion in next version.
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Gene: otulin has been removed from the panel.
Prepair 1000+ v1.1818 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099
Prepair 1000+ v1.1817 OTULIN Zornitza Stark Publications for gene: OTULIN were set to
Prepair 1000+ v1.1816 OTULIN Zornitza Stark Tag for review tag was added to gene: OTULIN.
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Gene: agtr1 has been removed from the panel.
Prepair 1000+ v1.1816 AGTR1 Zornitza Stark Tag for review tag was added to gene: AGTR1.
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Gene: mtpap has been removed from the panel.
Prepair 1000+ v1.1816 MTPAP Zornitza Stark Tag for review tag was added to gene: MTPAP.
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Gene: rbm8a has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Classified gene: RBM8A as Amber List (moderate evidence)
Prepair 1000+ v1.1816 RBM8A Zornitza Stark Gene: rbm8a has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1815 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Marked gene: SCO1 as ready
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Gene: sco1 has been removed from the panel.
Prepair 1000+ v1.1815 SCO1 Zornitza Stark Tag for review tag was added to gene: SCO1.
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Added comment: Comment when marking as ready: Meets criteria, for inclusion in next version.
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Gene: pex19 has been removed from the panel.
Prepair 1000+ v1.1815 PEX19 Zornitza Stark Tag for review tag was added to gene: PEX19.
Prepair 1000+ v1.1815 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Prepair 1000+ v1.1815 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1815 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, 300659 (3) to Intellectual developmental disorder, X-linked 93 MIM#300659
Prepair 1000+ v1.1814 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Prepair 1000+ v1.1813 CASK Zornitza Stark Marked gene: CASK as ready
Prepair 1000+ v1.1813 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Prepair 1000+ v1.1813 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus to X-linked syndromic intellectual disability MONDO:0020119
Prepair 1000+ v1.1812 CASK Zornitza Stark Publications for gene: CASK were set to
Prepair 1000+ v1.1811 CASK Andrew Coventry reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21954287, 12522552, 19377476, 20029458, 28139025, 28944139; Phenotypes: X-linked syndromic intellectual disability MONDO:0020119; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1811 BRWD3 Andrew Coventry reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93 MIM#300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1811 PEX19 Andrew Coventry gene: PEX19 was added
gene: PEX19 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX19 were set to 10051604; 20683989; 39757991; 21031596; 30561787; 36931687
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Peroxisome biogenesis disorder MONDO:0019234
Review for gene: PEX19 was set to GREEN
Added comment: Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life.

Functional studies and animal models are present.
Reported in individuals across at least 4 unrelated families.
Sources: Literature
Prepair 1000+ v1.1811 SCO1 Andrew Coventry changed review comment from: Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life.
Functional studies and model organisms also present.

ClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity.
Sources: Literature; to: Six unrelated families reported.
Typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life.
Functional studies and model organisms also present.

ClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity.

PMID: 39214134: 3 cases from 2 unrelated families, with developmental and epileptic encephalopathy, hypopituitarism.
Prepair 1000+ v1.1811 SCO1 Andrew Coventry gene: SCO1 was added
gene: SCO1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO1 were set to 11013136; 19295170; 31352446; 23878101
Phenotypes for gene: SCO1 were set to Mitochondrial disease MONDO:0044970; Mitochondrial complex IV deficiency, nuclear type 4 MIM#619048
Review for gene: SCO1 was set to GREEN
Added comment: Four unrelated families reported, typically presenting with lactatic acidosis and encephalopathy in infancy. SCO1 pathogenic variants were first described in an infant with respiratory distress, metabolic acidosis, hepatic failure, and encephalopathy in the setting of profound complex IV deficiency in muscle and liver. Further reports have shown phenotypic spectrum to include cardiomyopathy, encephalopathy, and lactic acidosis without cardiac or hepatic involvement. Many cases are fatal in the first few months of life.
Functional studies and model organisms also present.

ClinGen: While various names have been given to the constellation of features seen in those with SCO1-related disease, pathogenic variants in this gene cause a primary mitochondrial disease. Therefore, the SCO1 phenotype has been lumped into one disease entity.
Sources: Literature
Prepair 1000+ v1.1811 RBM8A Andrew Coventry gene: RBM8A was added
gene: RBM8A was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM8A were set to 22366785; 17236129; 26550033; 32227665
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome MIM#274000
Review for gene: RBM8A was set to AMBER
Added comment: The thrombocytopenia-absent radius syndrome (TAR) is characterised by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia. Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee.

Vast majority of cases include a recurrent 200kb deletion on one allele (although truncations are seen) and the presence of 1 of 2 SNPs in trans. The SNPs have a MAF of 3.05% and 0.42%. Cases have been reported with this phenotype without the 200kb deletion (PMID: 22366785, 32227665).

Currently, the large CNV in majority of cases would not be detected.
Sources: Literature
Prepair 1000+ v1.1811 MTPAP Andrew Coventry gene: MTPAP was added
gene: MTPAP was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTPAP were set to 20970105; 33340416; 32376682; 15769737; 31779033; 35235001; 27391121
Phenotypes for gene: MTPAP were set to Mitochondrial disease MONDO:0044970
Review for gene: MTPAP was set to GREEN
Added comment: Definitive disease-gene classification by ClinGen - "Identified in five individuals from four publications (PMIDs: 20970105, 31779033, 35235001, 27391121). Supported by a biochemical function (mitochondrial translation) shared with other genes associated with primary mitochondrial disease, early embryonic lethality and failure of developmental progression in a knockout mouse model, and disrupted expression of mitochondrial proteins and mitochondrial dysfunction following gene knockdown in HeLa cells (PMIDs: 33340416, 32376682, 15769737)."

Note that 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community - c.1432A>G (p.Asn478Asp).
Further additional families reported with a much more severe phenotype of lethal encephalopathy.

Phenotypes previous reported to be associated with MTPAP are likely to represent a continuum of severity associated with a mitochondrial disorder.
Clingen "While various names have been given to the constellation of features seen in those with MTPAP-related disease, including autosomal recessive spastic ataxia 4 (SPAX4) (MIM 613672) in additional to other mitochondrial disorders, pathogenic variants in this gene cause a primary mitochondrial disease.... lumped into one disease entity..."
Sources: Literature
Prepair 1000+ v1.1811 AGTR1 Andrew Coventry gene: AGTR1 was added
gene: AGTR1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTR1 were set to 16116425; 22095942
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis MIM#267430
Review for gene: AGTR1 was set to GREEN
Added comment: Severe disorder of renal tubular development characterised by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Can cause stillbirth. Three unrelated families reported for AGTR1 variants.
Other genes associated with this phenotype are included in 1000+.
Sources: Literature
Prepair 1000+ v1.1811 OTULIN Andrew Coventry reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27523608, 27559085, 30796585, 35170849; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MIM#617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1811 PDHX Andrew Coventry gene: PDHX was added
gene: PDHX was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHX were set to 20002125; 34873726; 33092611; 30981218; 25087164; 22766002; 12557299; 14518830; 15303005; 16566017; 27343776
Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349; Mitochondrial disease MONDO:0044970
Review for gene: PDHX was set to GREEN
Added comment: Established gene-disease association.
Clingen definitive for mitochondrial disease: "While various names have been given to the constellation of features seen in those with PDHX-related disorders, including pyruvate dehydrogenase complex deficiency or PDCD, pathogenic variants in this gene ultimately cause a primary mitochondrial disease. Therefore, the PDHX phenotype has been lumped into one disease entity according to the ClinGen Lumping and Splitting Framework."

Condition is a metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake.

Clingen: Age of onset ranges from the first days of life to later in childhood, with some individuals living well into adulthood. Clinical features in affected individuals include neonatal lactic acidosis, LSS, seizures, spasticity, agenesis of the corpus callosum, cerebral atrophy, vomiting, and optic atrophy.

Note:
PDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant;
c.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant.
Sources: Literature
Prepair 1000+ v1.1811 MFRP Zornitza Stark Tag for review tag was added to gene: MFRP.
Prepair 1000+ v1.1811 FAM161A Zornitza Stark Marked gene: FAM161A as ready
Prepair 1000+ v1.1811 FAM161A Zornitza Stark Gene: fam161a has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1811 CBS Zornitza Stark Marked gene: CBS as ready
Prepair 1000+ v1.1811 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1811 CBS Zornitza Stark Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) to Homocystinuria, B6-responsive and nonresponsive types, MIM#236200
Prepair 1000+ v1.1810 CBS Zornitza Stark Publications for gene: CBS were set to
Prepair 1000+ v1.1809 CBS Zornitza Stark Classified gene: CBS as Amber List (moderate evidence)
Prepair 1000+ v1.1809 CBS Zornitza Stark Gene: cbs has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1808 CBS Zornitza Stark reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: classic homocystinuria, MONDO:0009352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1808 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Prepair 1000+ v1.1808 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1808 TMEM94 Zornitza Stark Tag for review tag was added to gene: TMEM94.
Prepair 1000+ v1.1808 MBTPS1 Zornitza Stark Tag for review tag was added to gene: MBTPS1.
Prepair 1000+ v1.1808 IGHM Zornitza Stark Tag for review tag was added to gene: IGHM.
Prepair 1000+ v1.1808 DYNC1I2 Zornitza Stark Tag for review tag was added to gene: DYNC1I2.
Prepair 1000+ v1.1808 B9D1 Zornitza Stark Tag for review tag was added to gene: B9D1.
Prepair 1000+ v1.1808 ADPRHL2 Zornitza Stark Tag for review tag was added to gene: ADPRHL2.
Prepair 1000+ v1.1808 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Prepair 1000+ v1.1808 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1808 ZNHIT3 Zornitza Stark Phenotypes for gene: ZNHIT3 were changed from PEHO syndrome, 260565 (3), Autosomal recessive to PEHO syndrome MIM#260565
Prepair 1000+ v1.1807 ZNHIT3 Zornitza Stark Publications for gene: ZNHIT3 were set to
Prepair 1000+ v1.1806 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Prepair 1000+ v1.1806 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1806 ZNF335 Zornitza Stark Phenotypes for gene: ZNF335 were changed from Microcephaly 10, primary, autosomal recessive to Microcephaly 10, primary, autosomal recessive, MIM# 615095
Prepair 1000+ v1.1805 ZNF335 Zornitza Stark Publications for gene: ZNF335 were set to
Prepair 1000+ v1.1804 ZIC3 Zornitza Stark Marked gene: ZIC3 as ready
Prepair 1000+ v1.1804 ZIC3 Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1804 ZIC3 Zornitza Stark Phenotypes for gene: ZIC3 were changed from Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) to Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955); Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607); VACTERL association, X-linked, MIM# 314390, MONDO:0010752
Prepair 1000+ v1.1803 ZIC3 Zornitza Stark Publications for gene: ZIC3 were set to
Prepair 1000+ v1.1802 ZBTB24 Zornitza Stark Marked gene: ZBTB24 as ready
Prepair 1000+ v1.1802 ZBTB24 Zornitza Stark Gene: zbtb24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1802 ZBTB24 Zornitza Stark Phenotypes for gene: ZBTB24 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069; MONDO:0013553
Prepair 1000+ v1.1801 ZBTB24 Zornitza Stark Publications for gene: ZBTB24 were set to
Prepair 1000+ v1.1800 WDR81 Zornitza Stark Marked gene: WDR81 as ready
Prepair 1000+ v1.1800 WDR81 Zornitza Stark Gene: wdr81 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1800 WDR81 Zornitza Stark Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430; Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794
Prepair 1000+ v1.1799 WDR81 Zornitza Stark Publications for gene: WDR81 were set to
Prepair 1000+ v1.1798 WDR73 Zornitza Stark Marked gene: WDR73 as ready
Prepair 1000+ v1.1798 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1798 WDR73 Zornitza Stark Phenotypes for gene: WDR73 were changed from Galloway-Mowat syndrome, 251300 (3) to Galloway-Mowat syndrome 1, MIM# 251300
Prepair 1000+ v1.1797 WDR73 Zornitza Stark Publications for gene: WDR73 were set to
Prepair 1000+ v1.1796 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Prepair 1000+ v1.1796 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1796 VPS45 Zornitza Stark Phenotypes for gene: VPS45 were changed from Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Prepair 1000+ v1.1795 VPS45 Zornitza Stark Publications for gene: VPS45 were set to
Prepair 1000+ v1.1794 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Prepair 1000+ v1.1794 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1794 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Cohen syndrome, 216550 (3) to Cohen syndrome, MIM# 216550
Prepair 1000+ v1.1793 VPS13B Zornitza Stark Publications for gene: VPS13B were set to
Prepair 1000+ v1.1792 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Prepair 1000+ v1.1792 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1792 VARS2 Zornitza Stark Phenotypes for gene: VARS2 were changed from Combined oxidative phosphorylation deficiency 20, 615917 (3) to Combined oxidative phosphorylation deficiency 20 MIM#615917
Prepair 1000+ v1.1791 VARS2 Zornitza Stark Publications for gene: VARS2 were set to
Prepair 1000+ v1.1790 USH2A Zornitza Stark Marked gene: USH2A as ready
Prepair 1000+ v1.1790 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1790 USH2A Zornitza Stark Phenotypes for gene: USH2A were changed from Usher syndrome, type 2A, 276901 (3) to Usher syndrome, type 2A, MIM#276901
Prepair 1000+ v1.1789 USH2A Zornitza Stark Publications for gene: USH2A were set to
Prepair 1000+ v1.1788 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Prepair 1000+ v1.1788 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1788 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive to Leukodystrophy, hypomyelinating, 14, MIM#617899
Prepair 1000+ v1.1787 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Prepair 1000+ v1.1786 TYMP Zornitza Stark Marked gene: TYMP as ready
Prepair 1000+ v1.1786 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1786 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041
Prepair 1000+ v1.1785 TYMP Zornitza Stark Publications for gene: TYMP were set to
Prepair 1000+ v1.1784 TTC7A Zornitza Stark Marked gene: TTC7A as ready
Prepair 1000+ v1.1784 TTC7A Zornitza Stark Gene: ttc7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1784 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) to Gastrointestinal defects and immunodeficiency syndrome MIM#243150
Prepair 1000+ v1.1783 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Prepair 1000+ v1.1782 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Prepair 1000+ v1.1782 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1782 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from Trichohepatoenteric syndrome 1, 222470 (3) to Trichohepatoenteric syndrome 1 MIM#222470
Prepair 1000+ v1.1781 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Prepair 1000+ v1.1780 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Prepair 1000+ v1.1780 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1780 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from Joubert syndrome 14, 614424 (3) to Joubert syndrome 14, MIM#614424
Prepair 1000+ v1.1779 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Prepair 1000+ v1.1778 TMEM231 Zornitza Stark Marked gene: TMEM231 as ready
Prepair 1000+ v1.1778 TMEM231 Zornitza Stark Gene: tmem231 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1778 TMEM231 Zornitza Stark Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20, 614970 (3) to Joubert syndrome 20, MIM#614970; Meckel syndrome 11, MIM#615397
Prepair 1000+ v1.1777 TMEM231 Zornitza Stark Publications for gene: TMEM231 were set to
Prepair 1000+ v1.1776 TMEM165 Zornitza Stark Marked gene: TMEM165 as ready
Prepair 1000+ v1.1776 TMEM165 Zornitza Stark Gene: tmem165 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1776 TMEM165 Zornitza Stark Phenotypes for gene: TMEM165 were changed from Congenital disorder of glycosylation, type IIk, 614727 (3) to Congenital disorder of glycosylation, type IIk, MIM#614727
Prepair 1000+ v1.1775 TMEM165 Zornitza Stark Publications for gene: TMEM165 were set to
Prepair 1000+ v1.1774 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Prepair 1000+ v1.1774 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1774 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from Cholestasis, progressive familial intrahepatic 4, 615878 (3) to Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Prepair 1000+ v1.1773 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Prepair 1000+ v1.1772 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Prepair 1000+ v1.1772 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1772 TCN2 Zornitza Stark Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 (3) to Transcobalamin II deficiency MIM#275350
Prepair 1000+ v1.1771 TCN2 Zornitza Stark Publications for gene: TCN2 were set to
Prepair 1000+ v1.1770 TBX19 Zornitza Stark Marked gene: TBX19 as ready
Prepair 1000+ v1.1770 TBX19 Zornitza Stark Gene: tbx19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1770 TBX19 Zornitza Stark Phenotypes for gene: TBX19 were changed from Adrenocorticotropic hormone deficiency, 201400 (3) to Adrenocorticotropic hormone deficiency, MIM# 201400
Prepair 1000+ v1.1769 TBX19 Zornitza Stark Publications for gene: TBX19 were set to
Prepair 1000+ v1.1768 TBCK Zornitza Stark Marked gene: TBCK as ready
Prepair 1000+ v1.1768 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Prepair 1000+ v1.1768 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Prepair 1000+ v1.1767 TBCK Zornitza Stark Publications for gene: TBCK were set to
Prepair 1000+ v1.1766 STRADA Zornitza Stark Marked gene: STRADA as ready
Prepair 1000+ v1.1766 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Prepair 1000+ v1.1766 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive to Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087
Prepair 1000+ v1.1765 STRADA Zornitza Stark Publications for gene: STRADA were set to
Prepair 1000+ v1.1764 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Prepair 1000+ v1.1764 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1764 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3) to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796; Immunodeficiency 31B MONDO:0013427
Prepair 1000+ v1.1763 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Prepair 1000+ v1.1762 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Prepair 1000+ v1.1762 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1762 ST3GAL5 Zornitza Stark Phenotypes for gene: ST3GAL5 were changed from Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive to Salt and pepper developmental regression syndrome, MIM# 609056
Prepair 1000+ v1.1761 ST3GAL5 Zornitza Stark Publications for gene: ST3GAL5 were set to
Prepair 1000+ v1.1760 SSR4 Zornitza Stark Marked gene: SSR4 as ready
Prepair 1000+ v1.1760 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1760 SSR4 Zornitza Stark Phenotypes for gene: SSR4 were changed from Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive to Congenital disorder of glycosylation, type Iy MIM#300934
Prepair 1000+ v1.1759 SSR4 Zornitza Stark Publications for gene: SSR4 were set to
Prepair 1000+ v1.1758 SPINT2 Zornitza Stark Marked gene: SPINT2 as ready
Prepair 1000+ v1.1758 SPINT2 Zornitza Stark Gene: spint2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1758 SPINT2 Zornitza Stark Phenotypes for gene: SPINT2 were changed from Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3) to Diarrhoea 3, secretory sodium, congenital, syndromic, MIM#270420
Prepair 1000+ v1.1757 SPINT2 Zornitza Stark Publications for gene: SPINT2 were set to
Prepair 1000+ v1.1756 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Prepair 1000+ v1.1756 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1756 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
Prepair 1000+ v1.1755 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Prepair 1000+ v1.1754 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Prepair 1000+ v1.1754 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1754 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 (3) to Schimke immunoosseous dysplasia, MIM# 242900
Prepair 1000+ v1.1753 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1752 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from Cerebral creatine deficiency syndrome 1, 300352 (3) to Cerebral creatine deficiency syndrome 1, MIM#300352
Prepair 1000+ v1.1751 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1750 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from Hyperekplexia 3, 614618 (3) to Hyperekplexia 3 MIM#614618
Prepair 1000+ v1.1749 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1748 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 (3) to Brown-Vialetto-Van Laere syndrome 1, MIM#211530
Prepair 1000+ v1.1747 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1746 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 (3) to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Prepair 1000+ v1.1745 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to
Prepair 1000+ v1.1744 SLC4A4 Zornitza Stark Marked gene: SLC4A4 as ready
Prepair 1000+ v1.1744 SLC4A4 Zornitza Stark Gene: slc4a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1744 SLC4A4 Zornitza Stark Phenotypes for gene: SLC4A4 were changed from Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) to Renal tubular acidosis, proximal, with ocular abnormalities, MIM#604278
Prepair 1000+ v1.1743 SLC4A4 Zornitza Stark Publications for gene: SLC4A4 were set to
Prepair 1000+ v1.1742 SLC4A1 Zornitza Stark Phenotypes for gene: SLC4A1 were changed from Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590 to Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590
Prepair 1000+ v1.1741 SLC4A1 Zornitza Stark Marked gene: SLC4A1 as ready
Prepair 1000+ v1.1741 SLC4A1 Zornitza Stark Gene: slc4a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1741 SLC4A1 Zornitza Stark Phenotypes for gene: SLC4A1 were changed from Renal tubular acidosis, distal, AR, 611590 (3) to Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590
Prepair 1000+ v1.1740 SLC4A1 Zornitza Stark Publications for gene: SLC4A1 were set to
Prepair 1000+ v1.1739 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Prepair 1000+ v1.1739 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1739 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) to Congenital cataracts, hearing loss, and neurodegeneration, MIM#614482
Prepair 1000+ v1.1738 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Prepair 1000+ v1.1737 SLC26A3 Zornitza Stark Marked gene: SLC26A3 as ready
Prepair 1000+ v1.1737 SLC26A3 Zornitza Stark Gene: slc26a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1737 SLC26A3 Zornitza Stark Phenotypes for gene: SLC26A3 were changed from Diarrhea 1, secretory chloride, congenital, 214700 (3) to Diarrhoea 1, secretory chloride, congenital MIM#214700
Prepair 1000+ v1.1736 SLC26A3 Zornitza Stark Publications for gene: SLC26A3 were set to
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1735 SLC25A13 Zornitza Stark Publications for gene: SLC25A13 were set to
Prepair 1000+ v1.1734 SKIV2L Zornitza Stark Marked gene: SKIV2L as ready
Prepair 1000+ v1.1734 SKIV2L Zornitza Stark Gene: skiv2l has been classified as Green List (High Evidence).
Prepair 1000+ v1.1734 SKIV2L Zornitza Stark Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, 614602 (3) to Trichohepatoenteric syndrome 2, MIM# 614602
Prepair 1000+ v1.1733 SKIV2L Zornitza Stark Publications for gene: SKIV2L were set to
Prepair 1000+ v1.1732 SIL1 Zornitza Stark Marked gene: SIL1 as ready
Prepair 1000+ v1.1732 SIL1 Zornitza Stark Gene: sil1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1732 SIL1 Zornitza Stark Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome, 248800 (3) to Marinesco-Sjogren syndrome MIM#248800
Prepair 1000+ v1.1731 SIL1 Zornitza Stark Publications for gene: SIL1 were set to
Prepair 1000+ v1.1730 SERPINH1 Zornitza Stark Marked gene: SERPINH1 as ready
Prepair 1000+ v1.1730 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1730 SERPINH1 Zornitza Stark Phenotypes for gene: SERPINH1 were changed from Orofaciodigital syndrome VI, 277170 (3) to Osteogenesis imperfecta, type X, MIM# 613848; Osteogenesis imperfecta type 10, MONDO:0013459
Prepair 1000+ v1.1729 SERPINH1 Zornitza Stark Publications for gene: SERPINH1 were set to
Prepair 1000+ v1.1728 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Prepair 1000+ v1.1728 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Prepair 1000+ v1.1728 SEPSECS Zornitza Stark Phenotypes for gene: SEPSECS were changed from Pontocerebellar hypoplasia type 2D, 613811 (3) to Pontocerebellar hypoplasia type 2D, MIM# 613811
Prepair 1000+ v1.1727 SEPSECS Zornitza Stark Publications for gene: SEPSECS were set to
Prepair 1000+ v1.1726 SELENON Zornitza Stark Marked gene: SELENON as ready
Prepair 1000+ v1.1726 SELENON Zornitza Stark Gene: selenon has been classified as Green List (High Evidence).
Prepair 1000+ v1.1726 SELENON Zornitza Stark Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 (3) to Congenital myopathy 3 with rigid spine, MIM# 602771
Prepair 1000+ v1.1725 SELENON Zornitza Stark Publications for gene: SELENON were set to
Prepair 1000+ v1.1724 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Prepair 1000+ v1.1724 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1724 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, type I, 264350 (3) to Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350
Prepair 1000+ v1.1723 SCNN1A Zornitza Stark Publications for gene: SCNN1A were set to
Prepair 1000+ v1.1722 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Prepair 1000+ v1.1722 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1722 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from Ciliary dyskinesia, primary, 11, 612649 (3) to Ciliary dyskinesia, primary, 11, MIM# 612649
Prepair 1000+ v1.1721 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Prepair 1000+ v1.1720 PSPH Zornitza Stark Marked gene: PSPH as ready
Prepair 1000+ v1.1720 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Prepair 1000+ v1.1720 PSPH Zornitza Stark Phenotypes for gene: PSPH were changed from Phosphoserine phosphatase deficiency, 614023 (3) to Phosphoserine phosphatase deficiency , MIM# 614023
Prepair 1000+ v1.1719 PSPH Zornitza Stark Publications for gene: PSPH were set to
Prepair 1000+ v1.1718 PPT1 Zornitza Stark Marked gene: PPT1 as ready
Prepair 1000+ v1.1718 PPT1 Zornitza Stark Gene: ppt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1718 PPT1 Zornitza Stark Phenotypes for gene: PPT1 were changed from Ceroid lipofuscinosis, neuronal, 1, 256730 (3) to Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
Prepair 1000+ v1.1717 PPT1 Zornitza Stark Publications for gene: PPT1 were set to
Prepair 1000+ v1.1716 POMK Zornitza Stark Marked gene: POMK as ready
Prepair 1000+ v1.1716 POMK Zornitza Stark Gene: pomk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1716 POMK Zornitza Stark Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249
Prepair 1000+ v1.1715 POMK Zornitza Stark Publications for gene: POMK were set to
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1714 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090
Prepair 1000+ v1.1713 POLR3A Zornitza Stark Publications for gene: POLR3A were set to
Prepair 1000+ v1.1712 PLOD1 Zornitza Stark Marked gene: PLOD1 as ready
Prepair 1000+ v1.1712 PLOD1 Zornitza Stark Gene: plod1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1712 PLOD1 Zornitza Stark Phenotypes for gene: PLOD1 were changed from Ehlers-Danlos syndrome, type VI, 225400 (3) to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400
Prepair 1000+ v1.1711 PLOD1 Zornitza Stark Publications for gene: PLOD1 were set to
Prepair 1000+ v1.1710 PLEC Zornitza Stark Marked gene: PLEC as ready
Prepair 1000+ v1.1710 PLEC Zornitza Stark Gene: plec has been classified as Green List (High Evidence).
Prepair 1000+ v1.1710 PLEC Zornitza Stark Phenotypes for gene: PLEC were changed from Epidermolysis bullosa simplex with pyloric atresia, 612138 (3) to Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487; Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670; Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138; Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723
Prepair 1000+ v1.1709 PLEC Zornitza Stark Publications for gene: PLEC were set to
Prepair 1000+ v1.1708 PFKM Zornitza Stark Marked gene: PFKM as ready
Prepair 1000+ v1.1708 PFKM Zornitza Stark Gene: pfkm has been classified as Green List (High Evidence).
Prepair 1000+ v1.1708 PFKM Zornitza Stark Phenotypes for gene: PFKM were changed from Glycogen storage disease VII, 232800 (3) to Glycogen storage disease VII MIM#232800
Prepair 1000+ v1.1707 PFKM Zornitza Stark Publications for gene: PFKM were set to
Prepair 1000+ v1.1706 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Prepair 1000+ v1.1706 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1706 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862 to Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862; Peroxisome biogenesis disorder-4B, MIM# 614863
Prepair 1000+ v1.1705 PEX6 Zornitza Stark Publications for gene: PEX6 were set to
Prepair 1000+ v1.1704 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Prepair 1000+ v1.1704 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1704 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from Peroxisome biogenesis disorder 11A (Zellweger), 614883 to Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883; Peroxisome biogenesis disorder 11B, MIM#614885
Prepair 1000+ v1.1703 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Prepair 1000+ v1.1703 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1703 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from Peroxisome biogenesis disorder 3A (Zellweger), 614859 to Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859; Peroxisome biogenesis disorder 3B, MIM#266510
Prepair 1000+ v1.1702 PEPD Zornitza Stark Marked gene: PEPD as ready
Prepair 1000+ v1.1702 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1702 PEPD Zornitza Stark Phenotypes for gene: PEPD were changed from Prolidase deficiency, 170100 (3) to Prolidase deficiency, MIM# 170100
Prepair 1000+ v1.1701 PEPD Zornitza Stark Publications for gene: PEPD were set to
Prepair 1000+ v1.1700 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Prepair 1000+ v1.1700 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1700 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from Osteogenesis imperfecta, type VIII, 610915 (3) to Osteogenesis imperfecta, type VIII, MIM#610915
Prepair 1000+ v1.1699 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Prepair 1000+ v1.1698 OTC Zornitza Stark Marked gene: OTC as ready
Prepair 1000+ v1.1698 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1698 OTC Zornitza Stark Phenotypes for gene: OTC were changed from Ornithine transcarbamylase deficiency, 311250 (3) to Ornithine transcarbamylase deficiency, MIM# 311250
Prepair 1000+ v1.1697 OTC Zornitza Stark Publications for gene: OTC were set to
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Marked gene: ORC6 as ready
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Gene: orc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1696 ORC6 Zornitza Stark Phenotypes for gene: ORC6 were changed from Meier-Gorlin syndrome 3, 613803 (3) to Meier-Gorlin syndrome 3 MIM#613803
Prepair 1000+ v1.1695 ORC6 Zornitza Stark Publications for gene: ORC6 were set to
Prepair 1000+ v1.1694 ORAI1 Zornitza Stark Marked gene: ORAI1 as ready
Prepair 1000+ v1.1694 ORAI1 Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1694 ORAI1 Zornitza Stark Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, 612782 (3) to Immunodeficiency 9, MIM#612782; Myopathy, tubular aggregate, 2, MIM#615883
Prepair 1000+ v1.1693 ORAI1 Zornitza Stark Publications for gene: ORAI1 were set to
Prepair 1000+ v1.1692 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Prepair 1000+ v1.1692 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1692 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) to Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486; X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337
Prepair 1000+ v1.1691 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Prepair 1000+ v1.1690 OFD1 Zornitza Stark Marked gene: OFD1 as ready
Prepair 1000+ v1.1690 OFD1 Zornitza Stark Gene: ofd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1690 OFD1 Zornitza Stark Phenotypes for gene: OFD1 were changed from Joubert syndrome 10, 300804 (3) to Joubert syndrome 10 MIM#300804; Simpson-Golabi-Behmel syndrome, type 2 MIM#300209
Prepair 1000+ v1.1689 OFD1 Zornitza Stark Publications for gene: OFD1 were set to
Prepair 1000+ v1.1688 NYX Zornitza Stark Marked gene: NYX as ready
Prepair 1000+ v1.1688 NYX Zornitza Stark Gene: nyx has been classified as Green List (High Evidence).
Prepair 1000+ v1.1688 NYX Zornitza Stark Phenotypes for gene: NYX were changed from Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500 to Night blindness, congenital stationary (complete), 1A, X-linked MIM310500
Prepair 1000+ v1.1687 NYX Zornitza Stark Publications for gene: NYX were set to
Prepair 1000+ v1.1686 NT5C2 Zornitza Stark Marked gene: NT5C2 as ready
Prepair 1000+ v1.1686 NT5C2 Zornitza Stark Gene: nt5c2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1686 NT5C2 Zornitza Stark Phenotypes for gene: NT5C2 were changed from Spastic paraplegia 45, 613162 (3) to Spastic paraplegia 45, autosomal recessive, MIM# 613162
Prepair 1000+ v1.1685 NT5C2 Zornitza Stark Publications for gene: NT5C2 were set to
Prepair 1000+ v1.1684 NSUN2 Zornitza Stark Marked gene: NSUN2 as ready
Prepair 1000+ v1.1684 NSUN2 Zornitza Stark Gene: nsun2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1684 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, 611091 (3) to Intellectual developmental disorder, autosomal recessive 5, MIM# 611091
Prepair 1000+ v1.1683 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Prepair 1000+ v1.1682 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Prepair 1000+ v1.1682 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1682 NPHS2 Zornitza Stark Phenotypes for gene: NPHS2 were changed from Nephrotic syndrome, type 2, 600995 (3) to Nephrotic syndrome, type 2 MIM#600995
Prepair 1000+ v1.1681 NPHS2 Zornitza Stark Publications for gene: NPHS2 were set to
Prepair 1000+ v1.1680 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Prepair 1000+ v1.1680 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1680 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from Ichthyosis, congenital, autosomal recessive 6, 612281 (3) to Ichthyosis, congenital, autosomal recessive 6 MIM#612281
Prepair 1000+ v1.1679 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Prepair 1000+ v1.1678 NHS Zornitza Stark Marked gene: NHS as ready
Prepair 1000+ v1.1678 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Prepair 1000+ v1.1678 NHS Zornitza Stark Phenotypes for gene: NHS were changed from Cataract 40, X-linked, 302200 (3) to Nance-Horan syndrome MIM#302350
Prepair 1000+ v1.1677 NHS Zornitza Stark Publications for gene: NHS were set to
Prepair 1000+ v1.1676 NHS Zornitza Stark reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nance-Horan syndrome MIM#302350; Mode of inheritance: None
Prepair 1000+ v1.1676 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Prepair 1000+ v1.1676 NEK8 Zornitza Stark Gene: nek8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1676 NEK8 Zornitza Stark Phenotypes for gene: NEK8 were changed from Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive to Renal-hepatic-pancreatic dysplasia 2 MIM#615415
Prepair 1000+ v1.1675 NEK8 Zornitza Stark Publications for gene: NEK8 were set to
Prepair 1000+ v1.1674 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Prepair 1000+ v1.1674 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1674 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 5, MIM#618226
Prepair 1000+ v1.1673 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Prepair 1000+ v1.1672 NAXE Zornitza Stark Marked gene: NAXE as ready
Prepair 1000+ v1.1672 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Prepair 1000+ v1.1672 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM #617186
Prepair 1000+ v1.1671 NAXE Zornitza Stark Publications for gene: NAXE were set to
Prepair 1000+ v1.1670 MPLKIP Zornitza Stark Marked gene: MPLKIP as ready
Prepair 1000+ v1.1670 MPLKIP Zornitza Stark Gene: mplkip has been classified as Green List (High Evidence).
Prepair 1000+ v1.1670 MPLKIP Zornitza Stark Phenotypes for gene: MPLKIP were changed from Trichothiodystrophy 4, nonphotosensitive, 234050 (3) to Trichothiodystrophy 4, nonphotosensitive MIM#234050
Prepair 1000+ v1.1669 MPLKIP Zornitza Stark Publications for gene: MPLKIP were set to
Prepair 1000+ v1.1668 MMAB Zornitza Stark Marked gene: MMAB as ready
Prepair 1000+ v1.1668 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Prepair 1000+ v1.1668 MMAB Zornitza Stark Phenotypes for gene: MMAB were changed from Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) to Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110
Prepair 1000+ v1.1667 MMAB Zornitza Stark Publications for gene: MMAB were set to
Prepair 1000+ v1.1666 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Prepair 1000+ v1.1666 MGAT2 Zornitza Stark Gene: mgat2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1666 MGAT2 Zornitza Stark Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type IIa, 212066 (3) to Congenital disorder of glycosylation, type IIa MIM#212066
Prepair 1000+ v1.1665 MGAT2 Zornitza Stark Publications for gene: MGAT2 were set to
Prepair 1000+ v1.1664 MCFD2 Zornitza Stark Marked gene: MCFD2 as ready
Prepair 1000+ v1.1664 MCFD2 Zornitza Stark Gene: mcfd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1664 MCFD2 Zornitza Stark Phenotypes for gene: MCFD2 were changed from Factor V and factor VIII, combined deficiency of, 613625 (3) to Factor V and factor VIII, combined deficiency of MIM#613625
Prepair 1000+ v1.1663 MCFD2 Zornitza Stark Publications for gene: MCFD2 were set to
Prepair 1000+ v1.1662 MCFD2 Zornitza Stark reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V and factor VIII, combined deficiency of MIM#613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1662 MALT1 Zornitza Stark Marked gene: MALT1 as ready
Prepair 1000+ v1.1662 MALT1 Zornitza Stark Gene: malt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1662 MALT1 Zornitza Stark Phenotypes for gene: MALT1 were changed from Immunodeficiency 12, 615468 (3) to Immunodeficiency 12 MIM#615468
Prepair 1000+ v1.1661 MALT1 Zornitza Stark Publications for gene: MALT1 were set to
Prepair 1000+ v1.1660 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Prepair 1000+ v1.1660 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1660 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC, 613177 (3) to Cutis laxa, autosomal recessive, type IC, #613177
Prepair 1000+ v1.1659 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Prepair 1000+ v1.1658 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Prepair 1000+ v1.1658 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1658 LTBP3 Zornitza Stark Phenotypes for gene: LTBP3 were changed from Tooth agenesis, selective, 6, 613097 (3) to Dental anomalies and short stature, MIM #601216
Prepair 1000+ v1.1657 LTBP3 Zornitza Stark Publications for gene: LTBP3 were set to
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Marked gene: LRP5 as ready
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Added comment: Comment when marking as ready: Prepair only screens for recessive conditions.
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Gene: lrp5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1656 LRP5 Zornitza Stark Phenotypes for gene: LRP5 were changed from Osteoporosis-pseudoglioma syndrome, 259770 (3) to Exudative vitreoretinopathy 4 MIM#601813; Osteoporosis-pseudoglioma syndrome MIM#259770
Prepair 1000+ v1.1655 LRP5 Zornitza Stark Publications for gene: LRP5 were set to
Prepair 1000+ v1.1654 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Prepair 1000+ v1.1654 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1654 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome, 222448 (3) to Donnai-Barrow syndrome, MIM #222448
Prepair 1000+ v1.1653 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Prepair 1000+ v1.1652 LRIG2 Zornitza Stark Marked gene: LRIG2 as ready
Prepair 1000+ v1.1652 LRIG2 Zornitza Stark Gene: lrig2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1652 LRIG2 Zornitza Stark Phenotypes for gene: LRIG2 were changed from Urofacial syndrome 2, 615112 (3) to Urofacial syndrome 2, MIM #615112
Prepair 1000+ v1.1651 LRIG2 Zornitza Stark Publications for gene: LRIG2 were set to
Prepair 1000+ v1.1650 LIPT1 Zornitza Stark Marked gene: LIPT1 as ready
Prepair 1000+ v1.1650 LIPT1 Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1650 LIPT1 Zornitza Stark Phenotypes for gene: LIPT1 were changed from Lipoyltransferase 1 deficiency, 616299 (3) to Lipoyltransferase 1 deficiency, MIM#616299
Prepair 1000+ v1.1649 LIPT1 Zornitza Stark Publications for gene: LIPT1 were set to
Prepair 1000+ v1.1648 LIPT1 Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1648 LAMB3 Zornitza Stark Marked gene: LAMB3 as ready
Prepair 1000+ v1.1648 LAMB3 Zornitza Stark Gene: lamb3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1648 LAMB3 Zornitza Stark Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700
Prepair 1000+ v1.1647 LAMB3 Zornitza Stark Publications for gene: LAMB3 were set to
Prepair 1000+ v1.1646 LAMA3 Zornitza Stark Marked gene: LAMA3 as ready
Prepair 1000+ v1.1646 LAMA3 Zornitza Stark Gene: lama3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1646 LAMA3 Zornitza Stark Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional 2B, severe (MIM#619784); 3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660); Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783)
Prepair 1000+ v1.1645 LAMA3 Zornitza Stark Publications for gene: LAMA3 were set to
Prepair 1000+ v1.1644 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Prepair 1000+ v1.1644 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1644 LAMA1 Zornitza Stark Phenotypes for gene: LAMA1 were changed from Poretti-Boltshauser syndrome, 615960 (3) to Poretti-Boltshauser syndrome, MIM #615960
Prepair 1000+ v1.1643 LAMA1 Zornitza Stark Publications for gene: LAMA1 were set to
Prepair 1000+ v1.1642 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Prepair 1000+ v1.1642 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1642 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from Nemaline myopathy 8, autosomal recessive, 615348 (3) to Nemaline myopathy 8, autosomal recessive MIM#615348
Prepair 1000+ v1.1641 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Prepair 1000+ v1.1640 JAM3 Zornitza Stark Marked gene: JAM3 as ready
Prepair 1000+ v1.1640 JAM3 Zornitza Stark Gene: jam3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1640 JAM3 Zornitza Stark Phenotypes for gene: JAM3 were changed from Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3) to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730
Prepair 1000+ v1.1639 JAM3 Zornitza Stark Publications for gene: JAM3 were set to
Prepair 1000+ v1.1638 IVD Zornitza Stark Marked gene: IVD as ready
Prepair 1000+ v1.1638 IVD Zornitza Stark Gene: ivd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1638 IVD Zornitza Stark Phenotypes for gene: IVD were changed from Isovaleric acidemia, 243500 (3) to Isovaleric acidemia, MIM #243500
Prepair 1000+ v1.1637 IVD Zornitza Stark Publications for gene: IVD were set to
Prepair 1000+ v1.1636 IQCB1 Zornitza Stark Marked gene: IQCB1 as ready
Prepair 1000+ v1.1636 IQCB1 Zornitza Stark Gene: iqcb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1636 IQCB1 Zornitza Stark Phenotypes for gene: IQCB1 were changed from Senior-Loken syndrome 5, 609254 (3) to Senior-Loken syndrome 5 MIM#609254
Prepair 1000+ v1.1635 IQCB1 Zornitza Stark Publications for gene: IQCB1 were set to
Prepair 1000+ v1.1634 INSR Zornitza Stark Marked gene: INSR as ready
Prepair 1000+ v1.1634 INSR Zornitza Stark Gene: insr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1634 INSR Zornitza Stark Phenotypes for gene: INSR were changed from Leprechaunism, 246200 (3) to Donohue syndrome MIM#246200; Rabson-Mendenhall syndrome MIM#262190
Prepair 1000+ v1.1633 INSR Zornitza Stark Publications for gene: INSR were set to
Prepair 1000+ v1.1632 IFNGR1 Zornitza Stark Marked gene: IFNGR1 as ready
Prepair 1000+ v1.1632 IFNGR1 Zornitza Stark Gene: ifngr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1632 IFNGR1 Zornitza Stark Phenotypes for gene: IFNGR1 were changed from Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) to Immunodeficiency 27A, mycobacteriosis, MIM#209950
Prepair 1000+ v1.1631 IFNGR1 Zornitza Stark Publications for gene: IFNGR1 were set to
Prepair 1000+ v1.1630 IER3IP1 Zornitza Stark Marked gene: IER3IP1 as ready
Prepair 1000+ v1.1630 IER3IP1 Zornitza Stark Gene: ier3ip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1630 IER3IP1 Zornitza Stark Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome, 614231 (3) to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
Prepair 1000+ v1.1629 HPD Zornitza Stark Marked gene: HPD as ready
Prepair 1000+ v1.1629 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1629 HPD Zornitza Stark Phenotypes for gene: HPD were changed from Tyrosinemia, type III, 276710 (3) to Tyrosinemia, type III, MIM#276710
Prepair 1000+ v1.1628 HPD Zornitza Stark Publications for gene: HPD were set to
Prepair 1000+ v1.1627 HPD Zornitza Stark reviewed gene: HPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29456978; Phenotypes: Tyrosinemia, type III, MIM#276710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 (3) to HMG-CoA lyase deficiency, MIM# 246450
Prepair 1000+ v1.1626 HBB Zornitza Stark Tag for review tag was added to gene: HBB.
Prepair 1000+ v1.1626 HADHA Zornitza Stark Marked gene: HADHA as ready
Prepair 1000+ v1.1626 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Prepair 1000+ v1.1626 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from Fatty liver, acute, of pregnancy, 609016 (3) to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency 1 MIM#609015
Prepair 1000+ v1.1625 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Prepair 1000+ v1.1625 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1625 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from Combined oxidative phosphorylation deficiency 23, 616198 (3) to Combined oxidative phosphorylation deficiency 23 MIM#616198
Prepair 1000+ v1.1624 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Prepair 1000+ v1.1623 GNPTG Zornitza Stark Marked gene: GNPTG as ready
Prepair 1000+ v1.1623 GNPTG Zornitza Stark Gene: gnptg has been classified as Green List (High Evidence).
Prepair 1000+ v1.1623 GNPTG Zornitza Stark Phenotypes for gene: GNPTG were changed from Mucolipidosis III gamma, 252605 (3) to Mucolipidosis III gamma, MIM# 252605
Prepair 1000+ v1.1622 GNPTG Zornitza Stark Publications for gene: GNPTG were set to
Prepair 1000+ v1.1621 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Prepair 1000+ v1.1621 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1621 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) to Congenital arthrogryposis with anterior horn cell disease, MIM #611890; Lethal congenital contracture syndrome 1, MIM #253310
Prepair 1000+ v1.1620 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Prepair 1000+ v1.1619 GDI1 Zornitza Stark Marked gene: GDI1 as ready
Prepair 1000+ v1.1619 GDI1 Zornitza Stark Gene: gdi1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1619 GDI1 Zornitza Stark Phenotypes for gene: GDI1 were changed from Mental retardation, X-linked 41, 300849 (3) to Intellectual developmental disorder, X-linked 41, MIM #300849
Prepair 1000+ v1.1618 GDI1 Zornitza Stark Publications for gene: GDI1 were set to
Prepair 1000+ v1.1617 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Prepair 1000+ v1.1617 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1617 GDF1 Zornitza Stark Publications for gene: GDF1 were set to
Prepair 1000+ v1.1616 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from Right atrial isomerism, 208530 (3) to Congenital heart defects, multiple types, 6 MIM#613854; Right atrial isomerism (Ivemark), MIM #208530
Prepair 1000+ v1.1615 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Prepair 1000+ v1.1615 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1615 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) to Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340; Charcot-Marie-Tooth disease, type 4A, MIM#214400
Prepair 1000+ v1.1614 GDAP1 Zornitza Stark Publications for gene: GDAP1 were set to
Prepair 1000+ v1.1613 GAS8 Zornitza Stark Marked gene: GAS8 as ready
Prepair 1000+ v1.1613 GAS8 Zornitza Stark Gene: gas8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1613 GAS8 Zornitza Stark Phenotypes for gene: GAS8 were changed from Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive to Ciliary dyskinesia, primary, 33 MIM#616726
Prepair 1000+ v1.1612 GAS8 Zornitza Stark Publications for gene: GAS8 were set to
Prepair 1000+ v1.1611 TTC21B Kate Scarff changed review comment from: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.

Nephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit JATD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.; to: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.

Nephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit SRTD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.
Prepair 1000+ v1.1611 TTC21B Kate Scarff edited their review of gene: TTC21B: Changed phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819, Nephronophthisis 12, MIM #613820
Prepair 1000+ v1.1611 TTC21B Kate Scarff changed review comment from: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.; to: Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present. Nonskeletal involvement can include cleft lip/palate as well as anomalies of the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life.
Homozygous null alleles in Ttc21b are embryonic lethal in mice and it is likely that biallelic truncating null variants are equally incompatible with survival in humans.

Nephronophthisis 12: End stage kidney disease seen in multiple unrelated children <10 years. Patients harboring one truncating or splice site mutation in addition to a missense variant exhibit JATD or early onset NPHP with extra-renal features, whereas patients carrying homozygous p.Pro209Leu variants display a primarily kidney phenotype with NPHP and often with glomerular involvement (FSGS). However, liver and skeletal involvement as well as high myopia have also been described in patients with biallelic missense variants, including homozygous p.Pro209Leu carriers.
Prepair 1000+ v1.1611 TRIP11 Kate Scarff edited their review of gene: TRIP11: Changed phenotypes: Achondrogenesis, type IA, MIM #200600, Odontochondrodysplasia 1, MIM #184260
Prepair 1000+ v1.1611 DBR1 Lilian Downie Marked gene: DBR1 as ready
Prepair 1000+ v1.1611 DBR1 Lilian Downie Added comment: Comment when marking as ready: Green for the immune condition in OMIM Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510 although evidence is from a single paper but includes 4 unrelated families, 2 papers regarding encephalopathy, again enough evidence for inclusion >3 unrelated families.

UPGRADE TO GREEN
Prepair 1000+ v1.1611 DBR1 Lilian Downie Gene: dbr1 has been removed from the panel.
Prepair 1000+ v1.1611 AMN Lilian Downie Marked gene: AMN as ready
Prepair 1000+ v1.1611 AMN Lilian Downie Added comment: Comment when marking as ready: Treatable disorder with good outcomes
Prepair 1000+ v1.1611 AMN Lilian Downie Gene: amn has been removed from the panel.
Prepair 1000+ v1.1611 AMN Lilian Downie Publications for gene: AMN were set to
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Marked gene: ERCC5 as ready
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Gene: ercc5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1610 ERCC5 Lilian Downie Phenotypes for gene: ERCC5 were changed from Xeroderma pigmentosum, group G, 278780 (3) to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216
Prepair 1000+ v1.1609 ERCC5 Lilian Downie Publications for gene: ERCC5 were set to
Prepair 1000+ v1.1608 FAH Lilian Downie Marked gene: FAH as ready
Prepair 1000+ v1.1608 FAH Lilian Downie Gene: fah has been classified as Green List (High Evidence).
Prepair 1000+ v1.1608 FAH Lilian Downie Publications for gene: FAH were set to
Prepair 1000+ v1.1607 FAM126A Lilian Downie Marked gene: FAM126A as ready
Prepair 1000+ v1.1607 FAM126A Lilian Downie Gene: fam126a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1607 FAM126A Lilian Downie Publications for gene: FAM126A were set to
Prepair 1000+ v1.1606 FANCA Lilian Downie Marked gene: FANCA as ready
Prepair 1000+ v1.1606 FANCA Lilian Downie Gene: fanca has been classified as Green List (High Evidence).
Prepair 1000+ v1.1606 FBP1 Lilian Downie Marked gene: FBP1 as ready
Prepair 1000+ v1.1606 FBP1 Lilian Downie Gene: fbp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1606 FBP1 Lilian Downie Publications for gene: FBP1 were set to
Prepair 1000+ v1.1605 FERMT3 Lilian Downie Marked gene: FERMT3 as ready
Prepair 1000+ v1.1605 FERMT3 Lilian Downie Gene: fermt3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1605 FERMT3 Lilian Downie Publications for gene: FERMT3 were set to
Prepair 1000+ v1.1604 WRAP53 Lilian Downie Marked gene: WRAP53 as ready
Prepair 1000+ v1.1604 WRAP53 Lilian Downie Gene: wrap53 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1604 WRAP53 Lilian Downie Publications for gene: WRAP53 were set to
Prepair 1000+ v1.1603 XPC Lilian Downie Marked gene: XPC as ready
Prepair 1000+ v1.1603 XPC Lilian Downie Gene: xpc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1603 XPC Lilian Downie Publications for gene: XPC were set to
Prepair 1000+ v1.1602 ZNF469 Lilian Downie Marked gene: ZNF469 as ready
Prepair 1000+ v1.1602 ZNF469 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.1602 ZNF469 Lilian Downie Gene: znf469 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1602 ZNF469 Lilian Downie Publications for gene: ZNF469 were set to
Prepair 1000+ v1.1601 DHCR24 Lilian Downie Marked gene: DHCR24 as ready
Prepair 1000+ v1.1601 DHCR24 Lilian Downie Gene: dhcr24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1601 DHCR24 Lilian Downie Publications for gene: DHCR24 were set to
Prepair 1000+ v1.1600 DNAAF4 Lilian Downie Marked gene: DNAAF4 as ready
Prepair 1000+ v1.1600 DNAAF4 Lilian Downie Added comment: Comment when marking as ready: Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis.
Prepair 1000+ v1.1600 DNAAF4 Lilian Downie Gene: dnaaf4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1600 DNAAF4 Lilian Downie Tag cnv tag was added to gene: DNAAF4.
Prepair 1000+ v1.1600 DNAAF4 Lilian Downie Publications for gene: DNAAF4 were set to PMID: 20301301; 23872636
Prepair 1000+ v1.1599 DNAAF4 Lilian Downie Publications for gene: DNAAF4 were set to
Prepair 1000+ v1.1598 TRIP11 Kate Scarff changed review comment from: Characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Described in >10 unrelated families
Knockout mouse model PMID: 20089971
Deep intronic variants have been described PMID: 34057271, 34014608; to: ACG1A: Characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Described in >10 unrelated families
Knockout mouse model PMID: 20089971
Deep intronic variants have been described PMID: 34057271, 34014608

Odontochondrodysplasia 1: non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. Variable severity.

Null mutations of TRIP11 lead to ACG1A, while splicing/hypomorphic mutations cause ODCD (PMID: 34111908, 30728324).
Prepair 1000+ v1.1598 TMEM107 Kate Scarff changed review comment from: Ciliopathy
26518474: one patient with bilateral postaxial polydactyly in hands and feet, multiple tongue cysts, and several facial dysmorphic features including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Mutation was del Phe106.
26595381: one patient with OFD had homozygous missense variant, another patient with Joubert syndrome comp het for del Phe106 and a frameshift deletion.
26123494: Meckel–Gruber syndrome cases in this paper were defined on the basis of occipital encephalocele, perinatal lethality and either polydactyly or polycystic kidneys. Two individuals had a homozygous p.Ser92Cysfs*7 variant were identified.

Unclear if we should also be reporting other phenotypes: ?Joubert syndrome 29/Meckel syndrome 13, MIM #617562; to: Ciliopathy
26518474: one patient with bilateral postaxial polydactyly in hands and feet, multiple tongue cysts, and several facial dysmorphic features including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Mutation was del Phe106.
26595381: one patient with OFD had homozygous missense variant, another patient with Joubert syndrome comp het for del Phe106 and a frameshift deletion.
26123494: Meckel–Gruber syndrome cases in this paper were defined on the basis of occipital encephalocele, perinatal lethality and either polydactyly or polycystic kidneys. Two individuals had a homozygous p.Ser92Cysfs*7 variant identified.

OMIM denotes with a ? that for Joubert syndrome 29, MIM #617562, it indicates that the relationship between the phenotype and gene is provisional.
Prepair 1000+ v1.1598 TMEM107 Kate Scarff edited their review of gene: TMEM107: Changed phenotypes: Orofaciodigital syndrome XVI, MIM #617563, Meckel syndrome 13, MIM #617562, ?Joubert syndrome 29, MIM #617562
Prepair 1000+ v1.1598 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome 3 MIM#608629 to Joubert syndrome 3 MIM#608629; Retinitis pigmentosa
Prepair 1000+ v1.1597 AHI1 Zornitza Stark Publications for gene: AHI1 were set to 16155189; 20301500
Prepair 1000+ v1.1596 AHI1 Zornitza Stark reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28442542; Phenotypes: Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1596 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Prepair 1000+ v1.1596 XPNPEP3 Zornitza Stark Added comment: Comment when marking as ready: For upgrade Green.
Prepair 1000+ v1.1596 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1596 XPNPEP3 Zornitza Stark Tag for review tag was added to gene: XPNPEP3.
Prepair 1000+ v1.1596 TTN Zornitza Stark Tag for review tag was added to gene: TTN.
Prepair 1000+ v1.1596 RP2 Kate Scarff changed review comment from: RP involves progressive retinal degeneration, symptoms include night blindness, development of tunnel vision, and slowly progressive decreased central vision.; to: RP involves progressive retinal degeneration, symptoms include night blindness, development of tunnel vision, and slowly progressive decreased central vision. Onset usually in first decade of life.
Prepair 1000+ v1.1596 RAB39B Kate Scarff changed review comment from: Characterised by intellectual disability with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism.
One family had ~45kb deletion encompassing RAB39B gene and the last three coding exons of CLIC2 (PMID 25434005).

Unsure if Waisman syndrome 311510 is a distinct phenotype that should be reported, causes ID and Parkinson's (some juvenile PD).; to: Intellectual developmental disorder, X-linked 72; Characterised by intellectual disability with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism.
One family had ~45kb deletion encompassing RAB39B gene and the last three coding exons of CLIC2 (PMID 25434005).

Waisman syndrome: neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (some juvenile PD).
Prepair 1000+ v1.1596 RAB39B Kate Scarff edited their review of gene: RAB39B: Changed phenotypes: Intellectual developmental disorder, X-linked 72, MIM #300271, Waisman syndrome, MIM #311510
Prepair 1000+ v1.1596 PSAP Kate Scarff edited their review of gene: PSAP: Changed phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900, Combined SAP deficiency, MIM #611721, Gaucher disease, atypical, MIM #610539, Krabbe disease, atypical, MIM #611722
Prepair 1000+ v1.1596 PEX1 Kate Scarff changed review comment from: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.; to: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.

MONDO:0100259 - Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.
Prepair 1000+ v1.1596 PEX1 Kate Scarff edited their review of gene: PEX1: Changed phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100, Heimler syndrome 1, MIM #234580, Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, MONDO:0100259
Prepair 1000+ v1.1596 PEX1 Kate Scarff changed review comment from: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant? Should this phenotype be included for P1000?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000. See PMID: 26387595.; to: Characterized clinically by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisomes. Most severely affected individuals with classic Zellweger syndrome phenotype die within the first year of life.
~98% of variants detectable by sequencing. The PEX1 variants c.2097_2098insT/p.Ile700YfsX42 and c.2528GRA/p.Gly843Asp are the most common.
Homozygosity for p.Ile700TyrfsTer42 is associated with a more severe phenotype. Homozygosity for p.Gly843Asp has to date been associated with a milder ZSD phenotype and sometimes with an intermediate phenotype.

Other phenotypes:
Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539, characterised by overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum. Many children presenting as newborns, whereas others do not come to attention until later. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. Associated with p.Gly843Asp variant?

Heimler syndrome-1 (MIM #234580) represents the mildest end of the peroxisomal biogenesis disorder spectrum, characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities. Not severe enough to report for P1000? See PMID: 26387595.
Prepair 1000+ v1.1596 PEX1 Kate Scarff edited their review of gene: PEX1: Changed phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100, Heimler syndrome 1, MIM #234580, Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539
Prepair 1000+ v1.1596 LARGE1 Kate Scarff edited their review of gene: LARGE1: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, MIM #608840
Prepair 1000+ v1.1596 LARGE1 Kate Scarff changed review comment from: Condition includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), involves characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Described in >4 unrelated families.
Intragenic deletions have been reported (PMID: 17436019), as has an intragenic insertion/deletion (PMID: 21248746)

Should other phenotype for this gene be included? Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, MIM #608840, causes muscle weakness, brain abnormalities, and intellectual disability but does not affect the eyes. Phenotype described in Mendeliome.; to: Muscular dystrophy with impaired intellectual development and structural brain abnormalities type A, 6, MIM #613154: Condition includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), involves characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. Described in >4 unrelated families.
Intragenic deletions have been reported (PMID: 17436019), as has an intragenic insertion/deletion (PMID: 21248746)

Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, MIM #608840:
causes muscle weakness, structural brain abnormalities, and intellectual disability.
Prepair 1000+ v1.1596 DNAJC21 Lilian Downie Marked gene: DNAJC21 as ready
Prepair 1000+ v1.1596 DNAJC21 Lilian Downie Gene: dnajc21 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1596 DNAJC21 Lilian Downie Publications for gene: DNAJC21 were set to
Prepair 1000+ v1.1595 DNAJC6 Lilian Downie Marked gene: DNAJC6 as ready
Prepair 1000+ v1.1595 DNAJC6 Lilian Downie Gene: dnajc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1595 DNAJC6 Lilian Downie Publications for gene: DNAJC6 were set to
Prepair 1000+ v1.1594 DYNC2H1 Lilian Downie Marked gene: DYNC2H1 as ready
Prepair 1000+ v1.1594 DYNC2H1 Lilian Downie Gene: dync2h1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1594 DYNC2H1 Lilian Downie Publications for gene: DYNC2H1 were set to
Prepair 1000+ v1.1593 EIF2AK4 Lilian Downie Marked gene: EIF2AK4 as ready
Prepair 1000+ v1.1593 EIF2AK4 Lilian Downie Added comment: Comment when marking as ready: Downgrade to orange, onset is usually not until adulthood, teenage onset reported but usually 20's or later
Prepair 1000+ v1.1593 EIF2AK4 Lilian Downie Gene: eif2ak4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1593 EIF2AK4 Lilian Downie Publications for gene: EIF2AK4 were set to
Prepair 1000+ v1.1592 GAA Lilian Downie Marked gene: GAA as ready
Prepair 1000+ v1.1592 GAA Lilian Downie Gene: gaa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1592 GAA Lilian Downie Phenotypes for gene: GAA were changed from Glycogen storage disease II, 232300 (3) to Glycogen storage disease II (Pompe disease), 232300
Prepair 1000+ v1.1591 GAA Lilian Downie Publications for gene: GAA were set to
Prepair 1000+ v1.1590 GJC2 Lilian Downie Marked gene: GJC2 as ready
Prepair 1000+ v1.1590 GJC2 Lilian Downie Gene: gjc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1590 GJC2 Lilian Downie Publications for gene: GJC2 were set to
Prepair 1000+ v1.1589 GPR179 Lilian Downie Marked gene: GPR179 as ready
Prepair 1000+ v1.1589 GPR179 Lilian Downie Added comment: Comment when marking as ready: Orange or red at time of review, phenotype is not severe, non progressive visual impairment in low light only.
Prepair 1000+ v1.1589 GPR179 Lilian Downie Gene: gpr179 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1589 GPR179 Lilian Downie Phenotypes for gene: GPR179 were changed from Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) to GPR179-related retinopathy (MONDO:0800396)
Prepair 1000+ v1.1588 GPR179 Lilian Downie Publications for gene: GPR179 were set to
Prepair 1000+ v1.1587 GUCY2C Lilian Downie Marked gene: GUCY2C as ready
Prepair 1000+ v1.1587 GUCY2C Lilian Downie Added comment: Comment when marking as ready: Suggest demoting to orange or red, phenotype is not severe - requires early surgical management and then results in normal growth and development
Prepair 1000+ v1.1587 GUCY2C Lilian Downie Gene: gucy2c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1587 GUCY2C Lilian Downie Publications for gene: GUCY2C were set to
Prepair 1000+ v1.1586 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Prepair 1000+ v1.1586 SNORD118 Zornitza Stark Tag non-coding gene tag was added to gene: SNORD118.
Prepair 1000+ v1.1586 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Prepair 1000+ v1.1586 ZNF335 Lauren Thomas reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 38549403, 27540107, 29652087, 34982360; Phenotypes: Microcephaly 10, primary, autosomal recessive, MIM# 615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 XPNPEP3 Lauren Thomas reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 WDR73 Lauren Thomas reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466283, 26123727, 25873735, 26070982, 30315938; Phenotypes: Galloway-Mowat syndrome 1, MIM# 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 VPS13B Lauren Thomas reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 37692084, 19533689, 29758347, 19006247; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1586 HEXA Lilian Downie Marked gene: HEXA as ready
Prepair 1000+ v1.1586 HEXA Lilian Downie Gene: hexa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1586 HEXA Lilian Downie Publications for gene: HEXA were set to
Prepair 1000+ v1.1585 HMGCS2 Lilian Downie Marked gene: HMGCS2 as ready
Prepair 1000+ v1.1585 HMGCS2 Lilian Downie Gene: hmgcs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1585 HMGCS2 Lilian Downie Publications for gene: HMGCS2 were set to
Prepair 1000+ v1.1584 HOGA1 Lilian Downie Publications for gene: HOGA1 were set to 31123811
Prepair 1000+ v1.1583 IGF1R Lilian Downie Marked gene: IGF1R as ready
Prepair 1000+ v1.1583 IGF1R Lilian Downie Gene: igf1r has been classified as Green List (High Evidence).
Prepair 1000+ v1.1583 IGF1R Lilian Downie Publications for gene: IGF1R were set to
Prepair 1000+ v1.1582 IQSEC2 Lilian Downie Marked gene: IQSEC2 as ready
Prepair 1000+ v1.1582 IQSEC2 Lilian Downie Gene: iqsec2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1582 IQSEC2 Lilian Downie Publications for gene: IQSEC2 were set to
Prepair 1000+ v1.1581 KDM5C Lilian Downie Marked gene: KDM5C as ready
Prepair 1000+ v1.1581 KDM5C Lilian Downie Gene: kdm5c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1581 KDM5C Lilian Downie Publications for gene: KDM5C were set to
Prepair 1000+ v1.1580 L1CAM Lilian Downie Marked gene: L1CAM as ready
Prepair 1000+ v1.1580 L1CAM Lilian Downie Gene: l1cam has been classified as Green List (High Evidence).
Prepair 1000+ v1.1580 L1CAM Lilian Downie Phenotypes for gene: L1CAM were changed from MASA syndrome, 303350 (3) to MASA syndrome, MIM#303350; Hydrocephalus, congenital, X-linked, MIM#307000
Prepair 1000+ v1.1579 L1CAM Lilian Downie Publications for gene: L1CAM were set to
Prepair 1000+ v1.1578 LIFR Lilian Downie Marked gene: LIFR as ready
Prepair 1000+ v1.1578 LIFR Lilian Downie Gene: lifr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1578 LIFR Lilian Downie Publications for gene: LIFR were set to
Prepair 1000+ v1.1577 ITGA6 Lauren Rogers reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 IER3IP1 Lauren Rogers reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 HMGCL Lauren Rogers reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 HBB Lauren Rogers reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sickle cell anaemia, MIM# 603903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 SAMD9 Andrew Coventry reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 37830462; Phenotypes: MIRAGE syndrome (MIM#617053), Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041), Tumoral calcinosis, familial, normophosphatemic (MIM#610455); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1577 LIPA Lilian Downie Marked gene: LIPA as ready
Prepair 1000+ v1.1577 LIPA Lilian Downie Gene: lipa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1577 LIPA Lilian Downie Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease, 278000 (3) to Wolman disease, MIM#620151; Cholesteryl ester storage disease, MIM#278000
Prepair 1000+ v1.1576 HADHA Lauren Rogers reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency 1 MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1576 LIPA Lilian Downie Publications for gene: LIPA were set to
Prepair 1000+ v1.1575 APC2 Lilian Downie Marked gene: APC2 as ready
Prepair 1000+ v1.1575 APC2 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green at review
Prepair 1000+ v1.1575 APC2 Lilian Downie Gene: apc2 has been removed from the panel.
Prepair 1000+ v1.1575 APC2 Lilian Downie Tag for review tag was added to gene: APC2.
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Marked gene: OXCT1 as ready
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Added comment: Comment when marking as ready: Green at review
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Gene: oxct1 has been removed from the panel.
Prepair 1000+ v1.1575 OXCT1 Lilian Downie Phenotypes for gene: OXCT1 were changed from to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Prepair 1000+ v1.1574 OXCT1 Lilian Downie Publications for gene: OXCT1 were set to
Prepair 1000+ v1.1573 GNPTG Lauren Rogers reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10712439, 19370764:19659762, 33507475, 33023972, 32651481; Phenotypes: Mucolipidosis III gamma, MIM# 252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1573 TMEM5 Lilian Downie Marked gene: TMEM5 as ready
Prepair 1000+ v1.1573 TMEM5 Lilian Downie Gene: tmem5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1573 TMEM5 Lilian Downie Publications for gene: TMEM5 were set to
Prepair 1000+ v1.1572 TNNT1 Lilian Downie Marked gene: TNNT1 as ready
Prepair 1000+ v1.1572 TNNT1 Lilian Downie Gene: tnnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1572 TNNT1 Lilian Downie Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, 605355 (3) to Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355; Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386
Prepair 1000+ v1.1571 TNNT1 Lilian Downie Publications for gene: TNNT1 were set to
Prepair 1000+ v1.1570 UNC80 Lilian Downie Marked gene: UNC80 as ready
Prepair 1000+ v1.1570 UNC80 Lilian Downie Gene: unc80 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1570 UNC80 Lilian Downie Publications for gene: UNC80 were set to
Prepair 1000+ v1.1569 FLVCR2 Lilian Downie Marked gene: FLVCR2 as ready
Prepair 1000+ v1.1569 FLVCR2 Lilian Downie Gene: flvcr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1569 FLVCR2 Lilian Downie Publications for gene: FLVCR2 were set to
Prepair 1000+ v1.1568 DLAT Lilian Downie Marked gene: DLAT as ready
Prepair 1000+ v1.1568 DLAT Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.1568 DLAT Lilian Downie Gene: dlat has been removed from the panel.
Prepair 1000+ v1.1568 FLVCR2 Lauren Rogers reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DLAT Andrew Coventry gene: DLAT was added
gene: DLAT was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 34138529; 16049940; 20022530; 29093066
Phenotypes for gene: DLAT were set to Leigh syndrome MONDO:0009723; Pyruvate dehydrogenase E2 deficiency MIM#245348
Review for gene: DLAT was set to GREEN
Added comment: Clinical presentation is in infancy. Pyruvate dehydrogenase E2 deficiency is a mitochondrial disorder, mostly affects the brain and leads to decreased ATP production and energy deficit. Can manifest as a syndrome of neurologic signs (congenital microcephaly, hypotonia, epilepsy, and/or ataxia), brain impacts (dysgenesis of the corpus callosum, Leigh syndrome) and metabolic abnormalities (increased plasma pyruvate, lactic acidemia, and/or metabolic acidosis).
Biochemical function, expression data, and model systems available.

1-4% of total PDE2D cases are due to variants in DLAT - associated with phenotype w/survival into childhood/adulthood, milder than other genes involved with condition.

PMID: 16049940 - 2 unrelated patients with Episodic dystonia. Hypotonia and ataxia, being less prominent. Neuroradiological evidence of discrete lesions restricted to the globus pallidus,
Male patient 1 - dystonic movements of the facial muscles and of his hands and feet.Developmental delay (12 words at age 4). Treatment has improved condition.
Male patient 2 - presented at 11 months of age with episodic dystonia (up to 3hrs duration). 8 years of age, developmental delay, cannot walk.
PMID: 29093066 - 2 siblings (both homozygous for c.470T>G; p.Val157Gly). Male sibling reported with intellectual disability and exercise-induced gait abnormalities. IQ of 44 at 8 years of age. Female sibling noted to have global delays with intellectual disability.
PMID: 20022530 - two sisters with early onset episodic dystonia and pyruvate dehydrogenase deficiency.

At least 6 cases, in 4 unrelated families as described in publications above. While reportedly milder than other presentations, appears severe presentation in absence of treatment. Other genes currently included: PDHA1, PDHB, PDP1.
Sources: Literature
Prepair 1000+ v1.1568 UNC80 Lauren Thomas reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708753, 26708751, 30167850, 30771478; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TNNT1 Lauren Thomas reviewed gene: TNNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26296490, 31604653, 10952871, 24689076; Phenotypes: Nemaline myopathy 5A, autosomal recessive, severe infantile, MIM# 605355, Nemaline myopathy 5B, autosomal recessive, childhood-onset, MIM# 620386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TMEM5 Lauren Thomas reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23519211, 23217329; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 OXCT1 Andrew Coventry reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30799594, 20652411, 25778941, 10964512, 8751852, 23420214; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 APC2 Andrew Coventry gene: APC2 was added
gene: APC2 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10 MIM#618677; Intellectual developmental disorder, autosomal recessive 74 MIM#617169; Lissencephaly spectrum disorders MONDO:0018838
Review for gene: APC2 was set to GREEN
Added comment: 12 individuals from 8 unrelated families; intellectual disability, seizures, cortical dysplasia including posterior to anterior predominant pattern of lissencephaly, heterotopias, paucity of white matter, thin corpus callosum.
Definitive classification by ClinGen.
Mouse model present.

Note: Gene has also been implicated in Sotos Syndrome Type 3 which features intellectual disability and characteristic facial features
Sources: Literature
Prepair 1000+ v1.1568 LIPA Karina Sandoval reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374935, 11487567, 8617513, 21963785; Phenotypes: Wolman disease, MIM#620151, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 LIFR Karina Sandoval reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9674905, 9674906, 14740318, 24988918, 35663789, 20447141, 29620724, 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 L1CAM Karina Sandoval reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280, 9279760, 11857550, 15148591, 15368500, 22354677; Phenotypes: MASA syndrome, MIM#303350, Hydrocephalus, congenital, X-linked, MIM#307000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1568 KDM5C Karina Sandoval reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM#300534; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1568 IQSEC2 Karina Sandoval changed review comment from: De novo variants and PTCs in females are severe, while inherited missense are milder. Females with these missense may be asymptomatic or show mild intellectual disability (PMID: 31415821). Autistic features are common.

Missense can be both GOF or LOF.

More than 20 unrelated families reported.; to: De novo variants and PTCs in females are severe, while inherited missense are milder. Females with these missense may be asymptomatic or show mild intellectual disability (PMID: 31415821). Autistic features are common.

Missense can be both GOF or LOF.

More than 20 unrelated families reported.

ClinGen: Definitive gene-disease association - The affected individuals, including both males and females, typically have intellectual disability with variable seizures, autistic traits, and psychiatric problems. Males are generally more severely affected compared with females.
Prepair 1000+ v1.1568 IQSEC2 Karina Sandoval reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175, 31415821, 30842726; Phenotypes: Intellectual developmental disorder, X-linked 1, MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1568 IGF1R Karina Sandoval reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586944, 14657428, 25040157, 23045302, 26252249, 15928254, 22130793, 17264177; Phenotypes: Insulin-like growth factor I, resistance to, MIM#270450; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HOGA1 Karina Sandoval reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: 20797690, 21896830, 22391140, 36688940; Phenotypes: Hyperoxaluria, primary, type III, MIM#613616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HMGCS2 Karina Sandoval reviewed gene: HMGCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 9337379, 23751782, 33045405, 32470406, 32259399, 16601895; Phenotypes: HMG-CoA synthase-2 deficiency, MIM#605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HEXA Karina Sandoval reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388111, 20301397; Phenotypes: Tay-Sachs disease, GM2-gangliosidosis, several forms, [Hex A pseudodeficiency], MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GUCY2C Karina Sandoval reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Meconium ileus, MIM#614665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GPR179 Karina Sandoval reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive, MIM#614565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 GJC2 Karina Sandoval reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381, 15192806, 18094336, 22669416, 24374284, 15192806; Phenotypes: Leukodystrophy, hypomyelinating, 2, MIM#608804; Mode of inheritance: None
Prepair 1000+ v1.1568 GAA Karina Sandoval reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25103075, 27365701, 29880332; Phenotypes: Glycogen storage disease II, MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 EIF2AK4 Karina Sandoval changed review comment from: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade.

Pulmonary hypertension is a feature of the condition
Severe; yes. Early onset; ?

PMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y

PMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade; to: Slowly progressive and ultimately fatal without a lung transplant. Age of onset in 3rd decade.

Pulmonary hypertension is a feature of the condition

Well established gene-disease assoc. Severe; yes. Early onset; varies

PMID:24135949 - 2 affected sibs, aged 19y & 33y at diagnosis. And 2x sporadic cases at 22y & 15y

PMID: 24292273 - 13 families with 19 affected individuals. Age of PVOD diagnosis 3x 2nd decade (aged 11, 15 & 19), 9x 3rd decade, 4x 4th decade, 2x 5th decade, 1x 6th decade
Prepair 1000+ v1.1568 EIF2AK4 Karina Sandoval reviewed gene: EIF2AK4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24135949, 24292273; Phenotypes: Pulmonary venoocclusive disease 2, MIM#234810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DYNC2H1 Karina Sandoval reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158, 32753734, 31730820, 32753734; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DNAJC6 Karina Sandoval reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33983693, 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DNAJC21 Karina Sandoval reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3, MIM#617052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DNAAF4 Karina Sandoval reviewed gene: DNAAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23872636; Phenotypes: Ciliary dyskinesia, primary, 25, MIM#615482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DHCR24 Karina Sandoval reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559, 11519011, 24961299; Phenotypes: Desmosterolosis, MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 ZNF469 Cassandra Muller reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: None; Publications: 33739556, 37098112, 31496642, 18452888; Phenotypes: Brittle cornea syndrome 1, 229200, (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 XPC Cassandra Muller changed review comment from: Strong gene disease association.; to: Strong gene disease association. Severe DNA repair disorder, early childhood onset. Characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer. Can cause premature death.
Prepair 1000+ v1.1568 XPC Cassandra Muller reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26255934, 8298653; Phenotypes: Xeroderma pigmentosum, group C, 278720 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 WRAP53 Cassandra Muller reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 29514627, 32303682; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, 613988 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FERMT3 Melanie Marty reviewed gene: FERMT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234460, 19064721; Phenotypes: Leukocyte adhesion deficiency, type III, MIM# 612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FBP1 Melanie Marty reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FANCA Melanie Marty reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FAM126A Melanie Marty reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16951682, 21911699, 23998934, 22749724; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 FAH Melanie Marty reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 8253378, 1401056, 8364576, 8318997, 25681080; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 ERCC5 Melanie Marty reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 TTN Andrew Coventry reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145747, 17444505, 3975875, 24105469, 24395473, 25772186, 26392295, 26581302, 27796757, 28040389, 29575618, 29691892, 31660661; Phenotypes: TTN-related myopathy MONDO:0100175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 AMN Andrew Coventry reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: None; Publications: 12590260, 15024727, 17285242, 24156255, 26040326, 27604308; Phenotypes: Imerslund-Grasbeck syndrome 2 MIM#618882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 DBR1 Andrew Coventry reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279, 29474921, 38325642; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510, Viral infections of the brainstem, Ichthyosis (MONDO#0019269); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 HPDL Andrew Coventry reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32707086, 33188300, 33634263, 33970200, 18853439; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026, Spastic paraplegia 83, autosomal recessive MIM#619027, Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 SCN1B Andrew Coventry reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36291443, 31709768, 19710327, 23148524, 28218389, 33901312; Phenotypes: Developmental and epileptic encephalopathy 52 MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 USH2A Cassandra Muller reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20507924, 9624053, 15015129, 20301515, 36041150, 34331125; Phenotypes: Usher syndrome, type 2A, 276901 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 UFM1 Cassandra Muller reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, 617899 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Marked gene: SMPD1 as ready
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Gene: smpd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1568 SMPD1 Lilian Downie Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type A, 257200 (3) to Niemann-Pick disease, type A, 257200; Niemann-Pick disease, type B, 607616
Prepair 1000+ v1.1567 SMPD1 Lilian Downie Publications for gene: SMPD1 were set to
Prepair 1000+ v1.1566 PTPN23 Lilian Downie Marked gene: PTPN23 as ready
Prepair 1000+ v1.1566 PTPN23 Lilian Downie Added comment: Comment when marking as ready: UPGRADE TO GREEN
Prepair 1000+ v1.1566 PTPN23 Lilian Downie Gene: ptpn23 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1566 TYMP Cassandra Muller reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9924029; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM237 Cassandra Muller reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675, 22152675; Phenotypes: Joubert syndrome 14, 614424 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM231 Cassandra Muller reviewed gene: TMEM231: Rating: GREEN; Mode of pathogenicity: None; Publications: 23012439, 23349226, 22179047, 30617574, 27449316, 31663672, 25869670; Phenotypes: Joubert syndrome 20, 614970, (3), Meckel syndrome 11, 615397 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TMEM165 Cassandra Muller reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, 614727 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SPINT2 Cassandra Muller reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30445423, 19185281; Phenotypes: Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SMPD1 Cassandra Muller reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26499107; Phenotypes: Niemann-Pick disease, type A, 257200 (3), Niemann-Pick disease, type B, 607616 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 MCM4 Kate Scarff reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Changed rating: GREEN
Prepair 1000+ v1.1566 SLC6A8 Cassandra Muller reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326334, 11898126, 15154114, 17101918, 16086185; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352 (3); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 LTBP4 Kate Scarff reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26866239, 22829427, 19836010; Phenotypes: Cutis laxa, autosomal recessive, type IC, #613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC52A3 Cassandra Muller reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331, 26976849, 29053833, 25462087; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LTBP3 Kate Scarff reviewed gene: LTBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38192829, 19344874, 25899461, 25669657, 29625025; Phenotypes: Dental anomalies and short stature, MIM #601216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LRP2 Kate Scarff reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512, 20301732; Phenotypes: Donnai-Barrow syndrome, MIM #222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LRIG2 Kate Scarff reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23313374, 30885509, 23967498; Phenotypes: Urofacial syndrome 2, MIM #615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 LAMA1 Kate Scarff reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24013853, 25105227, 26932191; Phenotypes: Poretti-Boltshauser syndrome, MIM #615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 IVD Kate Scarff reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38484105, 15486829; Phenotypes: Isovaleric acidemia, MIM #243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TJP2 Lauren Thomas reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 31696999; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TBX19 Lauren Thomas reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 30086867; Phenotypes: Adrenocorticotropic hormone deficiency, MIM# 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 ST3GAL5 Lauren Thomas reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30691927, 27232954; Phenotypes: Salt and pepper developmental regression syndrome, MIM# 609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SPATA5 Lauren Thomas reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29343804, 26299366, 27246907; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SMARCAL1 Lauren Thomas reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31275356, 29282041, 18356746; Phenotypes: Schimke immunoosseous dysplasia, MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC52A2 Lauren Thomas reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26973221, 22864630, 24253200; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC4A1 Lauren Thomas reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600044, 10926824; Phenotypes: Distal renal tubular acidosis 4 with hemolytic anemia, MIM# 611590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SKIV2L Lauren Thomas reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444670, 34414925, 25714577; Phenotypes: Trichohepatoenteric syndrome 2, MIM# 614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SEPSECS Lauren Thomas reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 29464431, 29464431, 20920667; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SELENON Lauren Thomas reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 32796131, 11528383, 32154989; Phenotypes: Congenital myopathy 3 with rigid spine, MIM# 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SCNN1A Lauren Thomas changed review comment from: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia.

HGNC approved symbol/name: SCNN1A
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, supplementary sodium, but not mineralocorticoids
Known technical challenges? No
Gene reported in 3 independent families: Yes; to: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia.

HGNC approved symbol/name: SCNN1A
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: Yes, supplementary sodium, but not mineralocorticoids
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: Limited evidence for association between mono-allelic variants and disease (bronchiectasis with or without elevated sweat chloride 2, MIM# 613021; Liddle syndrome 3, MIM# 618126)
Prepair 1000+ v1.1566 SCNN1A Lauren Thomas reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23416952, 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 RSPH4A Lauren Thomas reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19200523, 23993197, 23798057, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11, MIM# 612649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PTPN23 Lauren Thomas reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: None; Publications: 31395947, 29899372, 29090338; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PSPH Lauren Thomas reviewed gene: PSPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26589312, 27161889, 26960553; Phenotypes: Phosphoserine phosphatase deficiency , MIM# 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PPT1 Lauren Thomas reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7637805, 9425237, 31741823, 19793312; Phenotypes: Ceroid lipofuscinosis, neuronal, 1, MIM# 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 POMT2 Lauren Thomas reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17923109, 24183756, 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, MIM# 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 POLR3A Lauren Thomas reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31637490, 21855841, 38561452; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PLOD1 Lauren Thomas reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34161861, 33579342; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PLEC Lauren Thomas changed review comment from: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950; to: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950
Prepair 1000+ v1.1566 PLEC Lauren Thomas changed review comment from: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950; to: PLEC was first reported in relation to autosomal recessive limb-girdle muscular dystrophy which is typically characterized by early childhood onset of proximal muscle weakness and atrophy, notably without skin involvement. PLEC has also been noted to be associated with epidermolysis bullosa 5A-5D.

ClinGen: The molecular mechanisms underlying EBS with muscular dystrophy (EBS5B) has primarily been nonsense, out-of-frame insertions or deletions within exon 31 and 32, leading to premature protein termination. The mechanism underlying autosomal recessive limb-girdle muscular dystrophy appears to be recessive truncating variants in exon 1f.

HGNC approved symbol/name: PLEC
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? For AR limb-girdle muscular dystrophy, a 9-bp deletion has been reported in seven probands in two publications (PMIDs: 21109228, 32605089)
Gene reported in 3 independent families: Yes

NOTE: AD phenotype - Epidermolysis bullosa simplex 5A, Ogna type MIM# 131950
Prepair 1000+ v1.1566 PLEC Lauren Thomas reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28447722, 25556389, 32576226; Phenotypes: Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, MIM# 616487, Epidermolysis bullosa simplex 5B, with muscular dystrophy, MIM# 226670, Epidermolysis bullosa simplex 5C, with pyloric atresia MIM# 612138, Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PEX6 Lauren Thomas reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8940266, 22894767; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862, Peroxisome biogenesis disorder-4B, MIM# 614863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PEPD Lauren Thomas reviewed gene: PEPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32455636, 19308961, 3827281, 36757671, 16470701; Phenotypes: Prolidase deficiency, MIM# 170100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 OTC Lauren Thomas reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26059767, 31441224, 25135652; Phenotypes: Ornithine transcarbamylase deficiency, MIM# 311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 NT5C2 Lauren Thomas reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32153630, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 NSUN2 Lauren Thomas reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731; Phenotypes: Intellectual developmental disorder, autosomal recessive 5, MIM# 611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 NLGN4X Lauren Thomas reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: 12669065, 18231125, 10071191, 29428674; Phenotypes: Intellectual developmental disorder, X-linked, MIM# 300495; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 TCN2 Andrew Coventry reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19373259, 32841161, 33023511, 30124850; Phenotypes: Transcobalamin II deficiency MIM#275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 TBCK Andrew Coventry reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040691, 30591081, 35095425, 36317458; Phenotypes: Syndromic complex neurodevelopmental disorder MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STRADA Andrew Coventry reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 33605605; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy MIM#611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 STAT1 Andrew Coventry reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12590259, 16585605, 20841510, 31512162, 27117246, 21772053, 32603902; Phenotypes: Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796, Immunodeficiency 31B MONDO:0013427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SSR4 Andrew Coventry reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 4218363, 26264460, 33300232, 38805916; Phenotypes: Congenital disorder of glycosylation, type Iy MIM#300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry changed review comment from: Affected individuals cab present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).
Well established gene-disease association, especially for bi-allelic variants, including animal model.

AD association also reported, however, limited evidence in literature for mono-allelic cause of disease.; to: Affected individuals can present with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. In some cases, symptoms resolved in the first year of life (PMID: 16751771).
Well established gene-disease association, especially for bi-allelic variants, including animal model.

AD association also reported, however, limited evidence in literature for mono-allelic cause of disease.
Prepair 1000+ v1.1566 SLC6A5 Andrew Coventry reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31604777, 30847549, 29859229, 16751771; Phenotypes: Hyperekplexia 3 MIM#614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SLC26A3 Andrew Coventry reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 19861545, 11524734; Phenotypes: Diarrhea 1, secretory chloride, congenital MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SIL1 Andrew Coventry reviewed gene: SIL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24176978, 16282977, 20301371, 16282978; Phenotypes: Marinesco-Sjogren syndrome MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 SERPINH1 Andrew Coventry reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608, 33524049; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 OPHN1 Andrew Coventry reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12807966, 16221952, 16221952, 29510240, 12807966, 16158428, 25649377, 24105372; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486, X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NHS Andrew Coventry reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737, 14564667, 18949062; Phenotypes: Nance-Horan syndrome MIM#302350, Cataract 40, X-linked MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1566 NEK8 Andrew Coventry reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18199800, 26697755, 26862157, 26967905, 12421721, 18235101, 23274954, 23793029; Phenotypes: Renal-hepatic-pancreatic dysplasia 2 MIM#615415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Marked gene: PRDM5 as ready
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Gene: prdm5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1566 PRDM5 Zornitza Stark Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170
Prepair 1000+ v1.1565 PRDM5 Zornitza Stark Publications for gene: PRDM5 were set to
Prepair 1000+ v1.1564 PIGV Zornitza Stark Marked gene: PIGV as ready
Prepair 1000+ v1.1564 PIGV Zornitza Stark Gene: pigv has been classified as Green List (High Evidence).
Prepair 1000+ v1.1564 PIGV Zornitza Stark Phenotypes for gene: PIGV were changed from Hyperphosphatasia with mental retardation syndrome 1, 239300 (3) to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398
Prepair 1000+ v1.1563 PIGV Zornitza Stark Publications for gene: PIGV were set to
Prepair 1000+ v1.1562 TRAPPC6B Zornitza Stark Tag for review tag was added to gene: TRAPPC6B.
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1562 TRAPPC9 Zornitza Stark Phenotypes for gene: TRAPPC9 were changed from Mental retardation, autosomal recessive 13, 613192 (3) to Intellectual developmental disorder, autosomal recessive 13 MIM#613192
Prepair 1000+ v1.1561 TRAPPC9 Zornitza Stark Publications for gene: TRAPPC9 were set to
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Marked gene: UPF3B as ready
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Gene: upf3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1560 UPF3B Zornitza Stark Phenotypes for gene: UPF3B were changed from Mental retardation, X-linked, syndromic 14, 300676 (3) to Intellectual developmental disorder, X-linked syndromic 14 MIM#300676
Prepair 1000+ v1.1559 UPF3B Zornitza Stark Publications for gene: UPF3B were set to
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1558 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) to Neuropathy, hereditary sensory and autonomic, type II MIM#201300
Prepair 1000+ v1.1557 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Marked gene: WNT7A as ready
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Gene: wnt7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1556 WNT7A Zornitza Stark Phenotypes for gene: WNT7A were changed from Ulna and fibula, absence of, with severe limb deficiency, 276820 (3) to Fuhrmann syndrome MIM#228930; Ulna and fibula, absence of, with severe limb deficiency MIM#276820
Prepair 1000+ v1.1555 WNT7A Zornitza Stark Publications for gene: WNT7A were set to
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Marked gene: ZAP70 as ready
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1554 ZAP70 Zornitza Stark Phenotypes for gene: ZAP70 were changed from Selective T-cell defect, 269840 (3) to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006; Immunodeficiency 48 MIM#269840
Prepair 1000+ v1.1553 ZAP70 Zornitza Stark Publications for gene: ZAP70 were set to
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Marked gene: ZC4H2 as ready
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1552 ZC4H2 Zornitza Stark Phenotypes for gene: ZC4H2 were changed from Wieacker-Wolff syndrome, 314580 (3) to Wieacker-Wolff syndrome MIM#314580
Prepair 1000+ v1.1551 ZC4H2 Zornitza Stark Publications for gene: ZC4H2 were set to
Prepair 1000+ v1.1550 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1549 TK2 Zornitza Stark Marked gene: TK2 as ready
Prepair 1000+ v1.1549 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1549 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) to Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560
Prepair 1000+ v1.1548 TK2 Zornitza Stark Publications for gene: TK2 were set to
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Marked gene: IL17RA as ready
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Gene: il17ra has been classified as Green List (High Evidence).
Prepair 1000+ v1.1547 IL17RA Zornitza Stark Phenotypes for gene: IL17RA were changed from Immunodeficiency 51, 613953 (3), Autosomal recessive to Immunodeficiency 51, MIM #613953
Prepair 1000+ v1.1546 IL17RA Zornitza Stark Publications for gene: IL17RA were set to
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1545 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from Multiple mitochondrial dysfunctions syndrome 4, 616370 (3) to Multiple mitochondrial dysfunctions syndrome 4, MIM #616370
Prepair 1000+ v1.1544 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Prepair 1000+ v1.1543 SBDS Zornitza Stark Marked gene: SBDS as ready
Prepair 1000+ v1.1543 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Prepair 1000+ v1.1543 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from Shwachman-Diamond syndrome, 260400 (3) to Shwachman-Diamond syndrome, MIM#260400
Prepair 1000+ v1.1542 SBDS Zornitza Stark Publications for gene: SBDS were set to
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Marked gene: PIEZO2 as ready
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Gene: piezo2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1541 PIEZO2 Zornitza Stark Phenotypes for gene: PIEZO2 were changed from Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive to Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146
Prepair 1000+ v1.1540 PIEZO2 Zornitza Stark Publications for gene: PIEZO2 were set to
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Marked gene: PHF8 as ready
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Gene: phf8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1539 PHF8 Zornitza Stark Phenotypes for gene: PHF8 were changed from Mental retardation syndrome, X-linked, Siderius type, 300263 (3) to Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263
Prepair 1000+ v1.1538 PHF8 Zornitza Stark Publications for gene: PHF8 were set to
Prepair 1000+ v1.1537 ITGA3 Zornitza Stark Tag for review tag was added to gene: ITGA3.
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1537 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from Mental retardation, X-linked 21/34, 300143 (3) to Intellectual developmental disorder, X-linked 21, MIM#300143
Prepair 1000+ v1.1536 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Marked gene: KIF1C as ready
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Gene: kif1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1535 KIF1C Zornitza Stark Phenotypes for gene: KIF1C were changed from Spastic ataxia 2, autosomal recessive, 611302 (3) to Spastic ataxia 2, autosomal recessive, MIM#611302
Prepair 1000+ v1.1534 KIF1C Zornitza Stark Publications for gene: KIF1C were set to
Prepair 1000+ v1.1533 SGCB Zornitza Stark Marked gene: SGCB as ready
Prepair 1000+ v1.1533 SGCB Zornitza Stark Gene: sgcb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1533 SGCB Zornitza Stark Phenotypes for gene: SGCB were changed from Muscular dystrophy, limb-girdle, type 2E, 604286 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Marked gene: POU1F1 as ready
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Gene: pou1f1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1532 POU1F1 Zornitza Stark Phenotypes for gene: POU1F1 were changed from Pituitary hormone deficiency, combined, 1, 613038 (3) to Pituitary hormone deficiency, combined or isolated, 1, MIM#613038
Prepair 1000+ v1.1531 POU1F1 Zornitza Stark Publications for gene: POU1F1 were set to
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Marked gene: TELO2 as ready
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Gene: telo2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1530 TELO2 Zornitza Stark Phenotypes for gene: TELO2 were changed from You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive to You-Hoover-Fong syndrome, MIM#616954
Prepair 1000+ v1.1529 TELO2 Zornitza Stark Publications for gene: TELO2 were set to
Prepair 1000+ v1.1528 SLC4A4 Cassandra Muller reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545938, 15085340, 15471865; Phenotypes: Proximal renal tubular acidosis-ocular anomaly syndrome, 604278 (3); Mode of inheritance: None
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Marked gene: TMCO1 as ready
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Gene: tmco1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1528 TMCO1 Zornitza Stark Phenotypes for gene: TMCO1 were changed from Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3) to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980
Prepair 1000+ v1.1527 TMCO1 Zornitza Stark Publications for gene: TMCO1 were set to
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1526 TULP1 Zornitza Stark Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14, 600132 (3) to Leber congenital amaurosis 15, MIM#613843; Retinitis pigmentosa 14, MIM#600132
Prepair 1000+ v1.1525 TULP1 Zornitza Stark Publications for gene: TULP1 were set to
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Marked gene: TXNL4A as ready
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Gene: txnl4a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1524 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from Burn-McKeown syndrome, 608572 (3) to Burn-McKeown syndrome, MIM#608572
Prepair 1000+ v1.1523 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Prepair 1000+ v1.1522 SYN1 Zornitza Stark reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1522 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115
Prepair 1000+ v1.1521 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Prepair 1000+ v1.1520 TYR Zornitza Stark Marked gene: TYR as ready
Prepair 1000+ v1.1520 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1520 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA, 203100 (3) to Oculocutaneous albinism type 1 (MONDO:0018135); Albinism, oculocutaneous, type IA, MIM#203100; Albinism, oculocutaneous, type IB, MIM#606952
Prepair 1000+ v1.1519 TYR Zornitza Stark Publications for gene: TYR were set to
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1518 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive to Developmental and epileptic encephalopathy 44, MIM#617132
Prepair 1000+ v1.1517 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Prepair 1000+ v1.1516 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Prepair 1000+ v1.1515 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller Deleted their comment
Prepair 1000+ v1.1514 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: AMBER
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Marked gene: MYO7A as ready
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Gene: myo7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1514 MYO7A Zornitza Stark Phenotypes for gene: MYO7A were changed from Usher syndrome, type 1B, 276900 (3) to Usher syndrome, type 1B, MIM# 276900
Prepair 1000+ v1.1513 MYO7A Zornitza Stark Publications for gene: MYO7A were set to
Prepair 1000+ v1.1512 SLC33A1 Cassandra Muller reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22243965, 27306358, 35999711; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1512 VKORC1 Zornitza Stark Tag for review tag was added to gene: VKORC1.
Prepair 1000+ v1.1512 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1512 WAS Zornitza Stark Marked gene: WAS as ready
Prepair 1000+ v1.1512 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Prepair 1000+ v1.1512 WAS Zornitza Stark Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, 301000 (3) to Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000
Prepair 1000+ v1.1511 WAS Zornitza Stark Publications for gene: WAS were set to
Prepair 1000+ v1.1510 WRN Zornitza Stark Marked gene: WRN as ready
Prepair 1000+ v1.1510 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1510 WRN Zornitza Stark Phenotypes for gene: WRN were changed from Werner syndrome, 277700 (3) to Werner syndrome, MIM#277700
Prepair 1000+ v1.1509 WRN Zornitza Stark Publications for gene: WRN were set to
Prepair 1000+ v1.1508 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1508 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Prepair 1000+ v1.1507 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Prepair 1000+ v1.1506 ABCA4 Zornitza Stark Marked gene: ABCA4 as ready
Prepair 1000+ v1.1506 ABCA4 Zornitza Stark Gene: abca4 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1506 ACSF3 Zornitza Stark Publications for gene: ACSF3 were set to
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1505 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3) to Myoclonic epilepsy of Lafora 2, MIM# 620681
Prepair 1000+ v1.1504 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Prepair 1000+ v1.1503 UQCRC2 Zornitza Stark Tag for review tag was added to gene: UQCRC2.
Prepair 1000+ v1.1503 ZIC3 Marta Cifuentes Ochoa reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29442328, 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955, MONDO:0010607), VACTERL association, X-linked, MIM# 314390, MONDO:0010752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Marked gene: KNL1 as ready
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Gene: knl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1503 KNL1 Zornitza Stark Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive, 604321 (3) to Microcephaly 4, primary, autosomal recessive, MIM# 604321; MONDO:0011437
Prepair 1000+ v1.1502 KNL1 Zornitza Stark Publications for gene: KNL1 were set to
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Marked gene: KRT5 as ready
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Gene: krt5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1501 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301360, 21424115, 11343052, 11281457; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1501 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599 to Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Prepair 1000+ v1.1500 KRT5 Zornitza Stark Phenotypes for gene: KRT5 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to EEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599
Prepair 1000+ v1.1499 KRT5 Zornitza Stark Publications for gene: KRT5 were set to
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Marked gene: LAMC2 as ready
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Gene: lamc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1498 LAMC2 Zornitza Stark Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786
Prepair 1000+ v1.1497 LAMC2 Zornitza Stark reviewed gene: LAMC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1497 PKD1L1 Zornitza Stark Tag for review tag was added to gene: PKD1L1.
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1497 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from Frank-ter Haar syndrome, 249420 (3) to Frank-ter Haar syndrome, MIM#249420
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller Deleted their review
Prepair 1000+ v1.1496 SLC25A13 Cassandra Muller edited their review of gene: SLC25A13: Added comment: Established gene-disease association. Neonatal onset. Characterised by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most improve between 6-12 months, but some may develop cirrhosis, severe infections, or adult onset form of condition (MIM#603471).; Changed rating: GREEN
Prepair 1000+ v1.1496 SH3PXD2B Zornitza Stark Publications for gene: SH3PXD2B were set to
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Marked gene: TCTN3 as ready
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Gene: tctn3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1495 TCTN3 Zornitza Stark Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18, 614815 (3) to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794
Prepair 1000+ v1.1494 TCTN3 Zornitza Stark Publications for gene: TCTN3 were set to
Prepair 1000+ v1.1493 SLC25A13 Cassandra Muller reviewed gene: SLC25A13: Rating: AMBER; Mode of pathogenicity: None; Publications: 11281457, 11343052, 12424587; Phenotypes: Citrullinemia, type II, neonatal-onset, 605814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1493 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, 617255 (3), Autosomal recessive to Lissencephaly 8 MIM#617255, MONDO:0014992
Prepair 1000+ v1.1492 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1491 TREX1 Zornitza Stark Phenotypes for gene: TREX1 were changed from Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165
Prepair 1000+ v1.1490 TREX1 Zornitza Stark Publications for gene: TREX1 were set to
Prepair 1000+ v1.1489 TRMU Zornitza Stark Marked gene: TRMU as ready
Prepair 1000+ v1.1489 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Prepair 1000+ v1.1489 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from Liver failure, transient infantile, 613070 (3) to Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111
Prepair 1000+ v1.1488 TRMU Zornitza Stark Publications for gene: TRMU were set to
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Marked gene: SLC12A1 as ready
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Gene: slc12a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1487 SLC12A1 Zornitza Stark Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1, 601678 (3) to Bartter syndrome, type 1, MIM#601678
Prepair 1000+ v1.1486 SLC12A1 Zornitza Stark Publications for gene: SLC12A1 were set to
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Gene: upb1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1485 UPB1 Zornitza Stark Publications for gene: UPB1 were set to 24526388
Prepair 1000+ v1.1484 UPB1 Zornitza Stark Phenotypes for gene: UPB1 were changed from Beta-ureidopropionase deficiency, MIM #613161 to Beta-ureidopropionase deficiency, MIM# 613161; MONDO:0013164
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1483 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Encephalopathy, neonatal severe, 300673 (3) to Encephalopathy, neonatal severe MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260
Prepair 1000+ v1.1482 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1481 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Prepair 1000+ v1.1480 UROS Zornitza Stark Marked gene: UROS as ready
Prepair 1000+ v1.1480 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Prepair 1000+ v1.1480 UROS Zornitza Stark Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic, 263700 (3) to Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902
Prepair 1000+ v1.1479 UROS Zornitza Stark Publications for gene: UROS were set to
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1478 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) to Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270
Prepair 1000+ v1.1477 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Prepair 1000+ v1.1476 WDR81 Marta Cifuentes Ochoa reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 21885617, 33724704; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430, Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1476 MED23 Zornitza Stark Marked gene: MED23 as ready
Prepair 1000+ v1.1476 MED23 Zornitza Stark Gene: med23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1476 MED23 Zornitza Stark Phenotypes for gene: MED23 were changed from Mental retardation, autosomal recessive 18, 614249 (3) to Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249
Prepair 1000+ v1.1475 MED23 Zornitza Stark Publications for gene: MED23 were set to
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Marked gene: MFSD2A as ready
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Gene: mfsd2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1474 MFSD2A Zornitza Stark Phenotypes for gene: MFSD2A were changed from Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486
Prepair 1000+ v1.1473 MFSD2A Zornitza Stark Publications for gene: MFSD2A were set to
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1472 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Prepair 1000+ v1.1471 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Prepair 1000+ v1.1470 MKKS Zornitza Stark Marked gene: MKKS as ready
Prepair 1000+ v1.1470 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Prepair 1000+ v1.1470 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from McKusick-Kaufman syndrome, 236700 (3) to Bardet-Biedl syndrome 6 MIM#605231; McKusick-Kaufman syndrome MIM#236700; MKKS-related ciliopathy MONDO:1040050
Prepair 1000+ v1.1469 MKKS Zornitza Stark Publications for gene: MKKS were set to
Prepair 1000+ v1.1468 USH1C Zornitza Stark Marked gene: USH1C as ready
Prepair 1000+ v1.1468 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Prepair 1000+ v1.1468 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from Usher syndrome, type 1C, 276904 (3) to Usher syndrome, type 1C MIM# 276904, MONDO:0010171
Prepair 1000+ v1.1467 USH1C Zornitza Stark Publications for gene: USH1C were set to
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1466 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, 607596 (3) to Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Prepair 1000+ v1.1465 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Marked gene: WDR34 as ready
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Gene: wdr34 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1464 WDR34 Zornitza Stark Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) to Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287
Prepair 1000+ v1.1463 WDR34 Zornitza Stark Publications for gene: WDR34 were set to
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1462 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3); Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
Prepair 1000+ v1.1461 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Prepair 1000+ v1.1460 SLC25A1 Cassandra Muller reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301347, 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3), Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 WDR34 Marta Cifuentes Ochoa reviewed gene: WDR34: Rating: GREEN; Mode of pathogenicity: None; Publications: 24183449, 24183451, 33124039, 30649997, 29241935, 28379358; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 VRK1 Marta Cifuentes Ochoa reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38554151, 19646678, 21937992, 25609612, 24126608, 27281532, 34169149, 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866, Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 USH1C Marta Cifuentes Ochoa reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C MIM# 276904, MONDO:0010171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MKKS Andrew Coventry reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973238, 10973251, 12107442, 20472660, 15770229, 20177705, 28761321, 30718709; Phenotypes: Bardet-Biedl syndrome 6 MIM#605231, McKusick-Kaufman syndrome MIM#236700, MKKS-related ciliopathy MONDO:1040050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A3 Cassandra Muller reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15871139, 19387023, 20065143, 23423671; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MFSD2A Andrew Coventry reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30043326, 32572202, 26005865, 26005868; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MED23 Andrew Coventry changed review comment from: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present.; to: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy is a syndromic intellectual disability, including early onset epilepsy, spasticity, microcephaly and, less frequently, delayed myelination and thin corpus callosum. Variants in MED23 have been reported in at least 11 affected individuals from at least 6 unrelated families. Congenital/early onset. Functional studies and animal models present. Variants reported include nonsense and missense.
Prepair 1000+ v1.1460 MED23 Andrew Coventry reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 27457812, 30847200, 31164858; Phenotypes: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC19A2 Cassandra Muller reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 19643445; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, 249270 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 UROS Marta Cifuentes Ochoa reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30685241, 24027798, 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 MECP2 Andrew Coventry reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11402105, 10577905, 11071498, 16647997, 10508514, 31206249, 10986043, 11807877; Phenotypes: Encephalopathy, neonatal severe MIM#300673, Intellectual developmental disorder, X-linked syndromic 13 MIM#300055, Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1460 UPB1 Marta Cifuentes Ochoa reviewed gene: UPB1: Rating: RED; Mode of pathogenicity: None; Publications: 35926322, 27604308, 24526388, 25638458, 22525402, 15385443, 17964839; Phenotypes: Beta-ureidopropionase deficiency, MIM# 613161, MONDO:0013164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SLC12A1 Cassandra Muller reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, 601678 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa commented on gene: TRMU: Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function.

HGNC approved symbol/name: TRMU
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families

Yemenite Jewish founder variant, p.Tyr77His.
Prepair 1000+ v1.1460 TRMU Marta Cifuentes Ochoa reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863, 36305855; Phenotypes: Liver failure, transient infantile MIM# 613070, acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TREX1 Marta Cifuentes Ochoa reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 33996686, 36814213; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TMTC3 Marta Cifuentes Ochoa reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161, 33293961; Phenotypes: Lissencephaly 8 MIM#617255, MONDO:0014992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TCTN3 Marta Cifuentes Ochoa reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883145, 32139166, 25118024, 34096792; Phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, MONDO:0009794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 TAT Marta Cifuentes Ochoa reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600, MONDO:0010160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 SH3PXD2B Cassandra Muller reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, 249420 (3); Mode of inheritance: None
Prepair 1000+ v1.1460 SGO1 Cassandra Muller reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic atrial and intestinal dysrhythmia, 616201 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1460 PKD1L1 Lilian Downie gene: PKD1L1 was added
gene: PKD1L1 was added to Prepair 1000+. Sources: Expert list
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKD1L1 were set to PMID: 33655537; PMID: 27616478
Phenotypes for gene: PKD1L1 were set to Heterotaxy, visceral, 8, autosomal MIM#617205
Review for gene: PKD1L1 was set to AMBER
Added comment: Variable penetrance but can cause major organ malformation, particularly cardiac, intestinal malformation, ciliary dyskinesia, hydrops.
Sources: Expert list
Prepair 1000+ v1.1459 LAMC2 Clare Hunt reviewed gene: LAMC2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type, MIM#619785, Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786; Mode of inheritance: None
Prepair 1000+ v1.1459 KRT5 Clare Hunt reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31302245, 31312705, 34912369; Phenotypes: Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 KNL1 Clare Hunt reviewed gene: KNL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26626498, 22983954, 20598275, 15806441, 27149178; Phenotypes: Microcephaly 4, primary, autosomal recessive, MIM# 604321, MONDO:0011437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UQCRC2 Lisa Norbart reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28275242, 33865955, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, MIM#615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NHLRC1 Lauren Thomas reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21505799, 12958597, 18256682; Phenotypes: Myoclonic epilepsy of Lafora 2, MIM# 620681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ACSF3 Lisa Norbart reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 30740739; Phenotypes: Combined malonic and methylmalonic aciduria, MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ABCA4 Lisa Norbart reviewed gene: ABCA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 19, MIM#601718, Retinal dystrophy, early-onset severe, MIM#248200, Stargardt disease 1, MIM#248200, Cone-rod dystrophy 3, MIM#604116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 NDUFV1 Lauren Thomas reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WRN Lisa Norbart reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8968742, 20301687; Phenotypes: Werner syndrome, MIM#277700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 WAS Lisa Norbart reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12969986, 23689198, 20301357, 34307257; Phenotypes: Neutropenia, severe congenital, X-linked, MIM#300299, Thrombocytopenia, X-linked, MIM#313900, Wiskott-Aldrich syndrome, MIM#301000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 VKORC1 Lisa Norbart reviewed gene: VKORC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12704386, 14765194, 24963046, 18315553; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 MYO7A Lauren Thomas reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29400105, 8160750; Phenotypes: Deafness, autosomal recessive 2, MIM# 600060, Usher syndrome, type 1B, MIM# 276900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UNC13D Lisa Norbart reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 16825436, 17993578, 21881043; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 UBA5 Lisa Norbart reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545681, 27545681, 27545674, 32179706, 26872069; Phenotypes: Developmental and epileptic encephalopathy 44, MIM#617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 TYR Lisa Norbart reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868138, 37053367; Phenotypes: Oculocutaneous albinism type 1 (MONDO:0018135), Albinism, oculocutaneous, type IA, MIM#203100, Albinism, oculocutaneous, type IB, MIM#606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 SYN1 Lisa Norbart reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667; Phenotypes: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491, Intellectual developmental disorder, X-linked 50, MIM#300115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Marked gene: ITGA3 as ready
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Added comment: Comment when marking as ready: UPGRADE TO GREEN
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Gene: itga3 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1459 ITGA3 Lilian Downie Publications for gene: ITGA3 were set to 22512483; 25810266; 23114595; 27717396; 32198874; 26854491; 34492382; 34751145
Prepair 1000+ v1.1458 ITGA3 Lilian Downie Publications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266
Prepair 1000+ v1.1457 MTHFR Lauren Thomas changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes ; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: there are two very common variants in this gene that are not associated with severe disease (665C>T & 1286A>C)
Prepair 1000+ v1.1457 VPS11 Lilian Downie Publications for gene: VPS11 were set to 27120463; 26307567; 27473128
Prepair 1000+ v1.1456 VPS11 Lilian Downie Tag founder tag was added to gene: VPS11.
Prepair 1000+ v1.1456 VPS53 Lilian Downie Tag founder tag was added to gene: VPS53.
Prepair 1000+ v1.1456 TXNL4A Lisa Norbart reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003, 34713892, 28905882; Phenotypes: Burn-McKeown syndrome, MIM#608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TULP1 Lisa Norbart reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 17620573, 27440997; Phenotypes: Leber congenital amaurosis 15, MIM#613843, Retinitis pigmentosa 14, MIM#600132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TMCO1 Lisa Norbart reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24194475, 20018682, 17351359, 30556256, 31102500; Phenotypes: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TELO2 Lisa Norbart reviewed gene: TELO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28944240, 27132593; Phenotypes: You-Hoover-Fong syndrome, MIM#616954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 POU1F1 Lisa Norbart reviewed gene: POU1F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1472057, 15928241, 7593413; Phenotypes: Pituitary hormone deficiency, combined or isolated, 1, MIM#613038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 SGCB Cassandra Muller reviewed gene: SGCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 KIF1C Clare Hunt reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24319291, 17273843, 24482476; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM#611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 IL1RAPL1 Clare Hunt reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18801879, 16470793, 18005360, 21484992, 19012350; Phenotypes: Intellectual developmental disorder, X-linked 21, MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 ITGA3 Kate Scarff reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22512483, 25810266, 23114595, 27717396, 32198874, 26854491, 34492382, 34751145; Phenotypes: Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MIM #614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PHF8 Clare Hunt reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35469323, 10398231, 18498374, 16199551, 17661819; Phenotypes: Mental retardation syndrome, X-linked, Siderius type, MIM#300263; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 PIEZO2 Clare Hunt reviewed gene: PIEZO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27653382, 27843126, 27912047, 27974811; Phenotypes: Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 SBDS Cassandra Muller reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12496757, 32412173; Phenotypes: Shwachman-Diamond syndrome, 260400 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 ISCA2 Kate Scarff reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243, 32424628, 39544370, 29470032; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM #616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 IL17RA Kate Scarff reviewed gene: IL17RA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21350122, 27930337, 34390440, 26607704; Phenotypes: Immunodeficiency 51, MIM #613953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TK2 Michelle Torres reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23230576; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 ZC4H2 Michelle Torres reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31206972, 37010288; Phenotypes: Wieacker-Wolff syndrome MIM#314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1456 ZAP70 Michelle Torres Deleted their comment
Prepair 1000+ v1.1456 ZAP70 Michelle Torres commented on gene: ZAP70: The ZAP70 gene is associated with both Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 and Immunodeficiency 48 MIM#269840.

Genotype-phenotype correlation:
- ZAP70 LoF variants cause Immunodeficiency 48 MIM#269840 characterised by low CD8 number, normal CD4 number but with poor function.
- ZAP70 combined hypomorphic and activating mutations cause decreased CD8, normal or decreased CD4 cells and severe autoimmunity resulting in Autoimmune disease, multisystem, infantile-onset, 2.
Prepair 1000+ v1.1456 ZAP70 Michelle Torres reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNT7A Michelle Torres reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826533, 23922166, 28855715; Phenotypes: Fuhrmann syndrome MIM#228930, Ulna and fibula, absence of, with severe limb deficiency MIM#276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 WNK1 Michelle Torres reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15060842, 15911806, 15455397, 16534117, 21089229, 32790646; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II MIM#201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 UPF3B Michelle Torres reviewed gene: UPF3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 26012578, 38318947; Phenotypes: Intellectual developmental disorder, X-linked syndromic 14 MIM#300676; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311, 39762237; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 UBA1 Michelle Torres Deleted their review
Prepair 1000+ v1.1456 UBA1 Michelle Torres reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 27699224, 26028276, 23518311; Phenotypes: Spinal muscular atrophy, X-linked 2, infantile MIM#301830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1456 TTC37 Michelle Torres reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC9 Michelle Torres reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30853973; Phenotypes: Intellectual developmental disorder, autosomal recessive 13 MIM#613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 TRAPPC6B Michelle Torres reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, 31687267; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy MIM#617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PIGV Clare Hunt reviewed gene: PIGV: Rating: GREEN; Mode of pathogenicity: None; Publications: 21739589, 20080219, 29310717, 20802478, 22228761; Phenotypes: Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRDM5 Clare Hunt reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 14679583, 22122778, 21664999, 8458232, 28306229; Phenotypes: Brittle cornea syndrome 2, MIM#614170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 PRKRA Clare Hunt reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18243799, 25142429, 35844281, 18420150; Phenotypes: Dystonia 16, MIM# 612067, MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1456 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from Crigler-Najjar syndrome, type I, 218800 (3) to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785
Prepair 1000+ v1.1455 UGT1A1 Zornitza Stark Publications for gene: UGT1A1 were set to
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Marked gene: UBR1 as ready
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Gene: ubr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1454 UBR1 Zornitza Stark Phenotypes for gene: UBR1 were changed from Johanson-Blizzard syndrome, 243800 (3) to Johanson-Blizzard syndrome MIM#243800
Prepair 1000+ v1.1453 UBR1 Zornitza Stark Publications for gene: UBR1 were set to
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Marked gene: TRIM37 as ready
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Gene: trim37 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1452 TRIM37 Zornitza Stark Phenotypes for gene: TRIM37 were changed from Mulibrey nanism, 253250 (3) to Mulibrey nanism MIM#253250
Prepair 1000+ v1.1451 TRIM37 Zornitza Stark Publications for gene: TRIM37 were set to
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1450 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 (3) to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Prepair 1000+ v1.1449 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Marked gene: TDRD7 as ready
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Gene: tdrd7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1448 TDRD7 Zornitza Stark Phenotypes for gene: TDRD7 were changed from Cataract 36, 613887 (3) to Cataract 36 MIM#613887
Prepair 1000+ v1.1447 TDRD7 Zornitza Stark Publications for gene: TDRD7 were set to
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Marked gene: TCTN2 as ready
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Gene: tctn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1446 TCTN2 Zornitza Stark Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482
Prepair 1000+ v1.1445 TCTN2 Zornitza Stark Publications for gene: TCTN2 were set to
Prepair 1000+ v1.1444 TBCD Zornitza Stark Marked gene: TBCD as ready
Prepair 1000+ v1.1444 TBCD Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1444 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Prepair 1000+ v1.1443 TBCD Zornitza Stark Publications for gene: TBCD were set to
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1442 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from Spinocerebellar ataxia, autosomal recessive 16, 615768 (3) to Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Prepair 1000+ v1.1441 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Prepair 1000+ v1.1440 STUB1 Zornitza Stark edited their review of gene: STUB1: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768
Prepair 1000+ v1.1440 STUB1 Zornitza Stark reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1440 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from Spinocerebellar ataxia, autosomal recessive 20, 616354 (3) to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
Prepair 1000+ v1.1439 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Marked gene: SLC5A7 as ready
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Gene: slc5a7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1438 SLC5A7 Zornitza Stark Phenotypes for gene: SLC5A7 were changed from Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive to Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143
Prepair 1000+ v1.1437 SLC5A7 Zornitza Stark Publications for gene: SLC5A7 were set to
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1436 SLC39A14 Zornitza Stark Phenotypes for gene: SLC39A14 were changed from Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive to Hypermanganesaemia with dystonia 2, MIM# 617013
Prepair 1000+ v1.1435 SLC39A14 Zornitza Stark Publications for gene: SLC39A14 were set to
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Marked gene: SLC35A3 as ready
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Gene: slc35a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1434 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures (MIM615553) to Arthrogryposis, impaired intellectual development, and seizures MIM#615553
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1433 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Prepair 1000+ v1.1432 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Marked gene: SCARF2 as ready
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Gene: scarf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1431 SCARF2 Zornitza Stark Phenotypes for gene: SCARF2 were changed from Van den Ende-Gupta syndrome, 600920 (3) to Van den Ende-Gupta syndrome, MIM#600920
Prepair 1000+ v1.1430 SCARF2 Zornitza Stark Publications for gene: SCARF2 were set to
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1429 SAR1B Zornitza Stark Phenotypes for gene: SAR1B were changed from Chylomicron retention disease, 246700 (3) to Chylomicron retention disease MIM#246700
Prepair 1000+ v1.1428 SAR1B Zornitza Stark Publications for gene: SAR1B were set to
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1427 RPGRIP1 Zornitza Stark Phenotypes for gene: RPGRIP1 were changed from Cone-rod dystrophy 13, 608194 (3) to Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446
Prepair 1000+ v1.1426 RPGRIP1 Zornitza Stark Publications for gene: RPGRIP1 were set to
Prepair 1000+ v1.1425 RTTN Zornitza Stark Marked gene: RTTN as ready
Prepair 1000+ v1.1425 RTTN Zornitza Stark Gene: rttn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1425 RTTN Zornitza Stark Phenotypes for gene: RTTN were changed from Polymicrogyria with seizures, 614833 (3) to Microcephaly, short stature, and polymicrogyria with seizures MIM#614833
Prepair 1000+ v1.1424 RTTN Zornitza Stark Publications for gene: RTTN were set to
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Marked gene: ROGDI as ready
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Gene: rogdi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1423 ROGDI Zornitza Stark Phenotypes for gene: ROGDI were changed from Kohlschutter-Tonz syndrome, 226750 (3) to Kohlschutter-Tonz syndrome MIM#226750
Prepair 1000+ v1.1422 ROGDI Zornitza Stark Publications for gene: ROGDI were set to
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Marked gene: SBF2 as ready
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Gene: sbf2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1421 SBF2 Zornitza Stark Phenotypes for gene: SBF2 were changed from Charcot-Marie-Tooth disease, type 4B2, 604563 (3) to Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475
Prepair 1000+ v1.1420 SBF2 Zornitza Stark Publications for gene: SBF2 were set to
Prepair 1000+ v1.1419 SBF2 Zornitza Stark reviewed gene: SBF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1419 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from Warburg micro syndrome 3, 614222 (3) to Warburg micro syndrome 3 MIM#614222
Prepair 1000+ v1.1418 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Prepair 1000+ v1.1417 PXDN Zornitza Stark Marked gene: PXDN as ready
Prepair 1000+ v1.1417 PXDN Zornitza Stark Gene: pxdn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1417 PXDN Zornitza Stark Phenotypes for gene: PXDN were changed from Corneal opacification and other ocular anomalies, 269400 (3) to Anterior segment dysgenesis 7, with sclerocornea, MIM#269400
Prepair 1000+ v1.1416 PXDN Zornitza Stark Publications for gene: PXDN were set to
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1415 SERPINF1 Zornitza Stark Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI, 613982 (3) to Osteogenesis imperfecta, type VI, MIM# 613982; MONDO:0013515
Prepair 1000+ v1.1414 SERPINF1 Zornitza Stark Publications for gene: SERPINF1 were set to
Prepair 1000+ v1.1413 SC5D Zornitza Stark Marked gene: SC5D as ready
Prepair 1000+ v1.1413 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Prepair 1000+ v1.1413 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330
Prepair 1000+ v1.1412 SC5D Zornitza Stark Publications for gene: SC5D were set to
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1411 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3) to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Prepair 1000+ v1.1410 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Prepair 1000+ v1.1409 SGCD Zornitza Stark Marked gene: SGCD as ready
Prepair 1000+ v1.1409 SGCD Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence).
Prepair 1000+ v1.1409 SGCD Zornitza Stark Phenotypes for gene: SGCD were changed from Muscular dystrophy, limb-girdle, type 2F, 601287 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287
Prepair 1000+ v1.1408 SGCD Zornitza Stark Publications for gene: SGCD were set to
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1407 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from Fanconi-Bickel syndrome, 227810 (3) to Fanconi-Bickel syndrome, MIM# 227810
Prepair 1000+ v1.1406 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to 30950137; 22145468
Prepair 1000+ v1.1405 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Prepair 1000+ v1.1404 SGCA Zornitza Stark Marked gene: SGCA as ready
Prepair 1000+ v1.1404 SGCA Zornitza Stark Gene: sgca has been classified as Green List (High Evidence).
Prepair 1000+ v1.1404 SGCA Zornitza Stark Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D, 608099 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968
Prepair 1000+ v1.1403 SGCA Zornitza Stark Publications for gene: SGCA were set to
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1402 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Tag SV/CNV tag was added to gene: SMN1.
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Marked gene: SMN1 as ready
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Gene: smn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1401 SMN1 Zornitza Stark Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 (3) to Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669
Prepair 1000+ v1.1400 SMN1 Zornitza Stark Publications for gene: SMN1 were set to
Prepair 1000+ v1.1399 SMN1 Zornitza Stark reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1399 SOST Zornitza Stark Marked gene: SOST as ready
Prepair 1000+ v1.1399 SOST Zornitza Stark Gene: sost has been classified as Green List (High Evidence).
Prepair 1000+ v1.1399 SOST Zornitza Stark Phenotypes for gene: SOST were changed from Sclerosteosis 1, 269500 (3) to Sclerosteosis 1, OMIM#269500,MONDO:0010016
Prepair 1000+ v1.1398 SOST Zornitza Stark Publications for gene: SOST were set to
Prepair 1000+ v1.1397 SOST Marta Cifuentes Ochoa reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 35160258, 21221996, 17853455, 30077757, 24594238; Phenotypes: Sclerosteosis 1, OMIM#269500,MONDO:0010016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SMN1 Marta Cifuentes Ochoa reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7813012, 23788250, 39062735, 29904179, 33531827; Phenotypes: Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNAP29 Lauren Rogers reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783, 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCA Marta Cifuentes Ochoa reviewed gene: SGCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30007747, 9192266, 34404573, 30989758; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099, autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC2A2 Lauren Rogers reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SGCD Lauren Rogers reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SFTPB Lauren Rogers reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SC5D Lauren Rogers reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SERPINF1 Marta Cifuentes Ochoa reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245, 37425194; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982, MONDO:0013515; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PXDN Clare Hunt reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21474777, 24939590, 21907015; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, MIM#269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RAB18 Clare Hunt reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 21473985, 20512159, 23420520, 23176487; Phenotypes: Warburg micro syndrome 3 MIM#614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SBF2 Marta Cifuentes Ochoa reviewed gene: SBF2: Rating: ; Mode of pathogenicity: None; Publications: 12554688, 15477569, 12687498, 15304601, 31772832, 31070812; Phenotypes: Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ROGDI Clare Hunt reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 8133980, 22482807; Phenotypes: Kohlschutter-Tonz syndrome MIM#226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RTTN Marta Cifuentes Ochoa reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30879067, 30121372, 29967526, 38178912; Phenotypes: Microcephaly, short stature, and polymicrogyria with seizures MIM#614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 RPGRIP1 Marta Cifuentes Ochoa reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25414380, 28456785, 24997176, 28559085, 33308271, 31666973, 39669618, 34722527; Phenotypes: Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SAR1B Clare Hunt reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552, 3792776, 18786134; Phenotypes: Chylomicron retention disease MIM#246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SCARF2 Clare Hunt reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23808541, 33783941, 19449421, 35256560, 1609830; Phenotypes: Van den Ende-Gupta syndrome, MIM#600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SERAC1 Clare Hunt reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19015156, 23355087, 22683713, 23918762, 28916646, 29205472; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC35A3 Clare Hunt reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777481, 24031089, 28328131; Phenotypes: Arthrogryposis, impaired intellectual development, and seizures MIM#615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC39A14 Clare Hunt reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 29498153, 27231142, 30232769; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SLC5A7 Clare Hunt reviewed gene: SLC5A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 27569547, 33250374, 31299140; Phenotypes: Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 SNX14 Clare Hunt reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285, 24501761; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 MIM#616354; Mode of inheritance: None
Prepair 1000+ v1.1397 SPART Clare Hunt reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 28679690, 6022528, 20437587; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 STUB1 Clare Hunt reviewed gene: STUB1: Rating: ; Mode of pathogenicity: None; Publications: 24113144, 24742043; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16 MIM#615768; Mode of inheritance: None
Prepair 1000+ v1.1397 TBCD Clare Hunt reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666374, 27666370, 27807845, 31569255; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TCTN2 Clare Hunt reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 32655147, 33590725, 25118024, 25182137; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TDRD7 Clare Hunt reviewed gene: TDRD7: Rating: ; Mode of pathogenicity: None; Publications: 21436445, 28418495; Phenotypes: Cataract 36 MIM#613887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TGM1 Clare Hunt reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326318, 10482949, 11298529, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 TRIM37 Clare Hunt reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 25470042, 33042106, 17100991, 12754710, 11938494; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UBR1 Clare Hunt reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24599544, 18553553, 16311597; Phenotypes: Johanson-Blizzard syndrome MIM#243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 UGT1A1 Clare Hunt reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12983120, 37585628, 1734381, 5411133, 9413009; Phenotypes: Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport), Crigler-Najjar syndrome, type I MIM#218800, Crigler-Najjar syndrome, type II MIM#606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 VPS11 Clare Hunt reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 26307567, 26307567, 27473128, 11250079, 33452836; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 POMK Lisa Norbart reviewed gene: POMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32907597, 31833209, 29910097, 28109637, 24925318, 24556084; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX13 Lisa Norbart reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883, Peroxisome biogenesis disorder 11B, MIM#614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 PEX12 Lisa Norbart reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859, Peroxisome biogenesis disorder 3B, MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 P3H1 Lisa Norbart reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17277775, 19088120, 27864101, 33737016, 18566967; Phenotypes: Osteogenesis imperfecta, type VIII, MIM#610915; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 ORAI1 Lisa Norbart reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31448844, 38982518; Phenotypes: Immunodeficiency 9, MIM#612782, Myopathy, tubular aggregate, 2, MIM#615883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 NDUFS1 Lisa Norbart reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1397 MPL Zornitza Stark Marked gene: MPL as ready
Prepair 1000+ v1.1397 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1397 MPL Zornitza Stark Publications for gene: MPL were set to
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1396 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency, 236250 (3) to Homocystinuria due to MTHFR deficiency, MIM# 236250
Prepair 1000+ v1.1395 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Prepair 1000+ v1.1394 MUT Zornitza Stark Marked gene: MUT as ready
Prepair 1000+ v1.1394 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Prepair 1000+ v1.1394 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, 251000 (3) to Methylmalonic aciduria, mut(0) type, MIM# 251000
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Marked gene: LDLRAP1 as ready
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Gene: ldlrap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1393 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, autosomal recessive, 603813 (3) to Familial hypercholesterolemia 4, MIM#603813
Prepair 1000+ v1.1392 LDLRAP1 Zornitza Stark Publications for gene: LDLRAP1 were set to
Prepair 1000+ v1.1391 LEP Zornitza Stark Marked gene: LEP as ready
Prepair 1000+ v1.1391 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Prepair 1000+ v1.1391 LEP Zornitza Stark Phenotypes for gene: LEP were changed from Obesity, morbid, due to leptin deficiency, 614962 (3) to Obesity, morbid, due to leptin deficiency, MIM#614962
Prepair 1000+ v1.1390 LEP Zornitza Stark Publications for gene: LEP were set to
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Marked gene: IFT80 as ready
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Gene: ift80 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1389 IFT80 Zornitza Stark Phenotypes for gene: IFT80 were changed from Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3) to Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263; MONDO:0012644
Prepair 1000+ v1.1388 IFT80 Zornitza Stark Publications for gene: IFT80 were set to
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1387 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) to Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Prepair 1000+ v1.1386 LMBRD1 Zornitza Stark Publications for gene: LMBRD1 were set to
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1385 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from Mental retardation, X-linked syndromic, Raymond type, 300799 (3) to Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427
Prepair 1000+ v1.1384 ZDHHC9 Zornitza Stark Publications for gene: ZDHHC9 were set to
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1383 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 (3) to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Prepair 1000+ v1.1382 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1381 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from Pontocerebellar hypoplasia, type 2E, 615851 (3) to Pontocerebellar hypoplasia, type 2E, MIM#615851
Prepair 1000+ v1.1380 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1379 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from Microcephaly 1, primary, autosomal recessive, 251200 (3) to Microcephaly 1, primary, autosomal recessive, MIM#251200
Prepair 1000+ v1.1378 MCPH1 Zornitza Stark Publications for gene: MCPH1 were set to
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1377 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810
Prepair 1000+ v1.1376 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1375 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from Combined oxidative phosphorylation deficiency 10, 614702 (3) to Combined oxidative phosphorylation deficiency 10, MIM#614702
Prepair 1000+ v1.1374 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Prepair 1000+ v1.1373 MVK Zornitza Stark Marked gene: MVK as ready
Prepair 1000+ v1.1373 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1373 MVK Zornitza Stark Phenotypes for gene: MVK were changed from Mevalonic aciduria, 610377 (3) to Mevalonic aciduria, MIM#610377; Hyper-IgD syndrome, MIM#260920
Prepair 1000+ v1.1372 MVK Zornitza Stark Publications for gene: MVK were set to
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Marked gene: MYO5B as ready
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Gene: myo5b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1371 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 (3) to Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850
Prepair 1000+ v1.1370 MYO5B Zornitza Stark Publications for gene: MYO5B were set to
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1369 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243
Prepair 1000+ v1.1368 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Prepair 1000+ v1.1367 NDUFA10 Lisa Norbart reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MYO5B Lisa Norbart reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 27532546; Phenotypes: Cholestasis, progressive familial intrahepatic, 10, MIM#619868, Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MVK Lisa Norbart reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27012807, 16722536; Phenotypes: Mevalonic aciduria, MIM#610377, Hyper-IgD syndrome, MIM#260920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTO1 Lisa Norbart reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, MIM#614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPV17 Lisa Norbart reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22508010, 26437932, 30298599; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MCPH1 Lisa Norbart reviewed gene: MCPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20978018, 30351297, 29026105; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM#251200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VPS53 Clare Hunt reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 24577744, 30100179; Phenotypes: Pontocerebellar hypoplasia, type 2E, MIM#615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 VSX2 Clare Hunt reviewed gene: VSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15257456, 8630490, 17661825, 3378363, 10932181; Phenotypes: Microphthalmia with coloboma 3, MIM# 610092, Microphthalmia, isolated 2, MIM# 610093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 ZDHHC9 Clare Hunt reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091, 28687527; Phenotypes: Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1367 LMBRD1 Lisa Norbart reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19136951; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 IFT80 Clare Hunt reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: None; Publications: 17468754, 19648123, 30767363; Phenotypes: Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263, MONDO:0012644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LEP Lisa Norbart reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26567097, 31483094; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM#614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LDLRAP1 Lisa Norbart reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Familial hypercholesterolemia 4, MIM#603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MUT Lauren Thomas changed review comment from: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:
• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.
• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT; to: Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. Variable severity and age of onset:

• Infantile completely deficient (mut0) or non-B12-responsive (clbB) is the most common phenotype and presents during infancy. Infants are normal at birth, but develop lethargy, vomiting, and dehydration within the first few months of life. They may also exhibit hepatomegaly, hypotonia, encephalopathy, metabolic acidosis, ketosis and ketonuria, hyperammonemia, and hyperglycemia.

• Partially deficient (mut-) or B12-responsive (cblA, cblD, rarely cblB) is an intermediate phenotype that can occur in the first few months or years of life. Symptoms include feeding problems, failure to thrive, hypotonia, and developmental delay. Some have protein aversion and vomiting, and lethargy after protein intake.

HGNC approved symbol/name: MMUT *
Is the phenotype(s) severe and onset <18yo? Yes
Treatments available: cobalamin, N-carbamylglutamate, carnitine, diet, liver transplant
Known technical challenges? No
Gene reported in 3 independent families: Yes

* NOTE: gene previously called MUT
Prepair 1000+ v1.1367 MUT Lauren Thomas reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MTHFR Lauren Thomas changed review comment from: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: common variants not associated with severe disease are not reported; to: Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

HGNC approved symbol/name: MTHFR
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Prepair 1000+ v1.1367 MTHFR Lauren Thomas reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 25024447, 8456826; Phenotypes: Homocystinuria due to MTHFR deficiency, MIM# 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 MPL Lauren Thomas reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 17054430, 16351641, 11133753; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Marked gene: LCA5 as ready
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Gene: lca5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1367 LCA5 Zornitza Stark Phenotypes for gene: LCA5 were changed from Leber congenital amaurosis 5, 604537 (3) to Leber congenital amaurosis 5, MIM# 604537
Prepair 1000+ v1.1366 LCA5 Zornitza Stark Publications for gene: LCA5 were set to
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Marked gene: MAN1B1 as ready
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Gene: man1b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1365 MAN1B1 Zornitza Stark Phenotypes for gene: MAN1B1 were changed from Mental retardation, autosomal recessive 15, 614202 (3) to Rafiq syndrome, MIM# 614202
Prepair 1000+ v1.1364 MAN1B1 Zornitza Stark Publications for gene: MAN1B1 were set to
Prepair 1000+ v1.1363 MAOA Zornitza Stark Marked gene: MAOA as ready
Prepair 1000+ v1.1363 MAOA Zornitza Stark Gene: maoa has been classified as Green List (High Evidence).
Prepair 1000+ v1.1363 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from Brunner syndrome, 300615 (3) to Brunner syndrome, MIM# 300615
Prepair 1000+ v1.1362 MAOA Zornitza Stark Publications for gene: MAOA were set to
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Marked gene: MASP1 as ready
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Gene: masp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1361 MASP1 Zornitza Stark Phenotypes for gene: MASP1 were changed from 3MC syndrome 1, 257920 (3) to 3MC syndrome 1, MIM# 257920
Prepair 1000+ v1.1360 MASP1 Zornitza Stark Publications for gene: MASP1 were set to
Prepair 1000+ v1.1359 MPI Zornitza Stark Marked gene: MPI as ready
Prepair 1000+ v1.1359 MPI Zornitza Stark Gene: mpi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1359 MPI Zornitza Stark Phenotypes for gene: MPI were changed from Congenital disorder of glycosylation, type Ib, 602579 (3) to Congenital disorder of glycosylation, type Ib, MIM# 602579
Prepair 1000+ v1.1358 MPI Zornitza Stark Publications for gene: MPI were set to
Prepair 1000+ v1.1357 MPI Lauren Thomas reviewed gene: MPI: Rating: GREEN; Mode of pathogenicity: None; Publications: 32266963, 19101627, 12414827, 9585601, 10980531, 33098580, 33204592, 32905087, 30242110; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MASP1 Lauren Thomas reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789649, 21258343, 21035106, 16096999; Phenotypes: 3MC syndrome 1, MIM# 257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 MAOA Lauren Thomas reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519, 8503438, 37750385; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1357 MAN1B1 Lauren Thomas reviewed gene: MAN1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763484, 26279649, 20345473; Phenotypes: Rafiq syndrome, MIM# 614202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 LCA5 Lauren Thomas reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10631161, 12642313, 17546029; Phenotypes: Leber congenital amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1357 DCLRE1C Lauren Thomas changed review comment from: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3.
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

HGNC approved symbol/name: DCLRE1C
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges: ?most common variant is a deletion
Gene reported in 3 independent families: Yes

Note: ClinGen groups the 2 OMIM phenotypes into "severe combined immunodeficiency due to DCLRE1C deficiency"; to: The majority of individuals present within the first months of life with oral thrush, diarrhea, fever, pneumonia, and/or failure to thrive as well as hypogammmaglobulinaemia, absent T and B lymphocytes and increased radiosensitivity.

Homozygous and compound heterozygous (missense, in-frame indel, nonsense, frameshift, and large deletion) variants have been reported; with the most common being gross deletions exons 1-3 (~59%)
*c.597C>A p.Tyr199X founder variant (Athabascan/ European Origin)

HGNC approved symbol/name: DCLRE1C
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges: ?most common variant is a deletion
Gene reported in 3 independent families: Yes

Note: ClinGen groups the 2 OMIM phenotypes into "severe combined immunodeficiency due to DCLRE1C deficiency"
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1357 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from Athabaskan brainstem dysgenesis syndrome, 601536 (3) to Athabaskan brainstem dysgenesis syndrome, MIM#601536; Bosley-Salih-Alorainy syndrome, MIM#601536
Prepair 1000+ v1.1356 HOXA1 Zornitza Stark Publications for gene: HOXA1 were set to
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1355 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from HSD10 mitochondrial disease to HSD10 mitochondrial disease, MIM#300438
Prepair 1000+ v1.1354 HSD17B10 Zornitza Stark Publications for gene: HSD17B10 were set to
Prepair 1000+ v1.1353 IARS Zornitza Stark Marked gene: IARS as ready
Prepair 1000+ v1.1353 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1353 IARS Zornitza Stark Phenotypes for gene: IARS were changed from Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Marked gene: IFNGR2 as ready
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Gene: ifngr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1352 IFNGR2 Zornitza Stark Phenotypes for gene: IFNGR2 were changed from Immunodeficiency 28, mycobacteriosis, 614889 (3) to Immunodeficiency 28, mycobacteriosis, MIM#614889
Prepair 1000+ v1.1351 IFNGR2 Zornitza Stark Publications for gene: IFNGR2 were set to
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Marked gene: IL11RA as ready
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Gene: il11ra has been classified as Green List (High Evidence).
Prepair 1000+ v1.1350 IL11RA Zornitza Stark Phenotypes for gene: IL11RA were changed from Craniosynostosis and dental anomalies, 614188 (3) to Craniosynostosis and dental anomalies, MIM#614188
Prepair 1000+ v1.1349 IL11RA Zornitza Stark Publications for gene: IL11RA were set to
Prepair 1000+ v1.1348 IL11RA Crystle Lee reviewed gene: IL11RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29926465, 24498618; Phenotypes: Craniosynostosis and dental anomalies, MIM#614188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IFNGR2 Crystle Lee reviewed gene: IFNGR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18625743, 31497017; Phenotypes: Immunodeficiency 28, mycobacteriosis, MIM#614889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 IARS Crystle Lee reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 HSD17B10 Crystle Lee reviewed gene: HSD17B10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38841322, 22127393; Phenotypes: HSD10 mitochondrial disease, MIM#300438; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1348 HOXA1 Crystle Lee reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18412118; Phenotypes: Athabaskan brainstem dysgenesis syndrome, MIM#601536, Bosley-Salih-Alorainy syndrome, MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Marked gene: FMR1 as ready
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Gene: fmr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1348 FMR1 Zornitza Stark Phenotypes for gene: FMR1 were changed from Fragile X syndrome to Fragile X syndrome, MIM #300624
Prepair 1000+ v1.1347 FMR1 Zornitza Stark Publications for gene: FMR1 were set to
Prepair 1000+ v1.1346 FMR1 Zornitza Stark reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fragile X syndrome, MIM #300624; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1346 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from Ciliary dyskinesia, primary, 24, 615481 (3) to Ciliary dyskinesia, primary, 24 MIM#615481
Prepair 1000+ v1.1345 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1344 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome, 602782 (3) to Histiocytosis-lymphadenopathy plus syndrome MIM#602782
Prepair 1000+ v1.1343 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Prepair 1000+ v1.1342 SUOX Zornitza Stark Marked gene: SUOX as ready
Prepair 1000+ v1.1342 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Prepair 1000+ v1.1342 SUOX Zornitza Stark Phenotypes for gene: SUOX were changed from Sulfite oxidase deficiency, 272300 (3) to Sulfite oxidase deficiency MIM#272300
Prepair 1000+ v1.1341 SUOX Zornitza Stark Publications for gene: SUOX were set to
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1340 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308
Prepair 1000+ v1.1339 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1338 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from Transaldolase deficiency, 606003 (3) to Transaldolase deficiency MIM#606003
Prepair 1000+ v1.1337 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Prepair 1000+ v1.1336 TSFM Zornitza Stark Marked gene: TSFM as ready
Prepair 1000+ v1.1336 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Prepair 1000+ v1.1336 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from Combined oxidative phosphorylation deficiency 3, 610505 (3) to Combined oxidative phosphorylation deficiency 3, MIM#610505
Prepair 1000+ v1.1335 TSFM Zornitza Stark Publications for gene: TSFM were set to
Prepair 1000+ v1.1334 TWNK Zornitza Stark Marked gene: TWNK as ready
Prepair 1000+ v1.1334 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Prepair 1000+ v1.1334 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245; Perrault syndrome 5, MIM#616138
Prepair 1000+ v1.1333 TWNK Zornitza Stark Publications for gene: TWNK were set to
Prepair 1000+ v1.1332 UMPS Zornitza Stark Marked gene: UMPS as ready
Prepair 1000+ v1.1332 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Prepair 1000+ v1.1332 UMPS Zornitza Stark Phenotypes for gene: UMPS were changed from Orotic aciduria, 258900 (3) to Orotic aciduria, MIM#258900
Prepair 1000+ v1.1331 UMPS Zornitza Stark Publications for gene: UMPS were set to
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Marked gene: TMEM138 as ready
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Gene: tmem138 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1330 TMEM138 Zornitza Stark Phenotypes for gene: TMEM138 were changed from Joubert syndrome 16, 614465 (3) to Joubert syndrome 16, MIM#614465
Prepair 1000+ v1.1329 TMEM138 Zornitza Stark Publications for gene: TMEM138 were set to
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1328 WDR19 Zornitza Stark Phenotypes for gene: WDR19 were changed from Senior-Loken syndrome 8, 616307 (3) to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378
Prepair 1000+ v1.1327 WDR19 Zornitza Stark Publications for gene: WDR19 were set to
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1326 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from Alport syndrome 1, X-linked to Alport syndrome 1, X-linked, MIM#301050
Prepair 1000+ v1.1325 COL4A5 Zornitza Stark Publications for gene: COL4A5 were set to
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1324 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from Optic atrophy 7, 612989 (3) to Optic atrophy 7 MIM#612989
Prepair 1000+ v1.1323 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Marked gene: TMEM67 as ready
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Gene: tmem67 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1322 TMEM67 Zornitza Stark Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, 610688 (3) to COACH syndrome 1 MIM#216360; Joubert syndrome 6 MIM#610688; Meckel syndrome 3 MIM#607361; Nephronophthisis 11 MIM#613550
Prepair 1000+ v1.1321 TMEM67 Zornitza Stark Publications for gene: TMEM67 were set to
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1320 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, 612301 (3) to Osteopetrosis, autosomal recessive 7, MIM#612301
Prepair 1000+ v1.1319 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Marked gene: TP53RK as ready
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Gene: tp53rk has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1318 TP53RK Zornitza Stark Tag for review tag was added to gene: TP53RK.
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1318 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from Mitochondrial complex III deficiency, nuclear type 2, 615157 (3) to Mitochondrial complex III deficiency, nuclear type 2 MIM#615157
Prepair 1000+ v1.1317 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1316 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from Leber congenital amaurosis 2, 204100 (3) to Retinitis pigmentosa 20, MIM#613794; Leber congenital amaurosis 2, MIM#204100
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1315 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Prepair 1000+ v1.1314 POMP Zornitza Stark reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Marked gene: RPS6KA3 as ready
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Gene: rps6ka3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1314 RPS6KA3 Zornitza Stark Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, MIM#303600; Intellectual developmental disorder, X-linked 19; MIM#300844
Prepair 1000+ v1.1313 RPS6KA3 Zornitza Stark Publications for gene: RPS6KA3 were set to
Prepair 1000+ v1.1312 USB1 Zornitza Stark Marked gene: USB1 as ready
Prepair 1000+ v1.1312 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1312 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from Poikiloderma with neutropenia, 604173 (3) to Poikiloderma with neutropenia MIM#604173
Prepair 1000+ v1.1311 USB1 Zornitza Stark Publications for gene: USB1 were set to
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1310 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from Septooptic dysplasia, 182230 (3) to Septooptic dysplasia, MIM#182230; Pituitary hormone deficiency, combined, 5 MIM#182230; Growth hormone deficiency with pituitary anomalies, MIM#182230
Prepair 1000+ v1.1309 HESX1 Zornitza Stark Publications for gene: HESX1 were set to
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1308 VMA21 Zornitza Stark Phenotypes for gene: VMA21 were changed from Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive to Myopathy, X-linked, with excessive autophagy MIM#310440
Prepair 1000+ v1.1307 VMA21 Zornitza Stark Publications for gene: VMA21 were set to
Prepair 1000+ v1.1306 GHR Zornitza Stark Marked gene: GHR as ready
Prepair 1000+ v1.1306 GHR Zornitza Stark Gene: ghr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1306 GHR Zornitza Stark Phenotypes for gene: GHR were changed from Laron dwarfism, 262500 (3) to Laron dwarfism, MIM#262500
Prepair 1000+ v1.1305 GHR Zornitza Stark Publications for gene: GHR were set to
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1304 WARS2 Zornitza Stark Phenotypes for gene: WARS2 were changed from Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710; Parkinsonism-dystonia 3, childhood-onset MIM#619738
Prepair 1000+ v1.1303 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Prepair 1000+ v1.1302 PTS Zornitza Stark Marked gene: PTS as ready
Prepair 1000+ v1.1302 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Prepair 1000+ v1.1302 PTS Zornitza Stark Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Prepair 1000+ v1.1301 PTS Zornitza Stark Publications for gene: PTS were set to
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Marked gene: DHDDS as ready
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Gene: dhdds has been classified as Green List (High Evidence).
Prepair 1000+ v1.1300 DHDDS Zornitza Stark Phenotypes for gene: DHDDS were changed from Retinitis pigmentosa 59, 613861 (3) to Retinitis pigmentosa 59, MIM#613861; Congenital disorder of glycosylation, type 1bb, MIM# 613861
Prepair 1000+ v1.1299 DHDDS Zornitza Stark Publications for gene: DHDDS were set to
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1298 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome, 222300 (3) to Wolfram syndrome 1 MIM#222300
Prepair 1000+ v1.1297 WFS1 Zornitza Stark Publications for gene: WFS1 were set to
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Gene: retreg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1296 RETREG1 Zornitza Stark Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3) to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142
Prepair 1000+ v1.1295 RETREG1 Zornitza Stark Publications for gene: RETREG1 were set to
Prepair 1000+ v1.1294 FLNA Zornitza Stark Marked gene: FLNA as ready
Prepair 1000+ v1.1294 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Prepair 1000+ v1.1294 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from FG syndrome 2, 300321 (3) to FG syndrome 2, MIM#300321; Frontometaphyseal dysplasia 1, MIM#305620; Heterotopia, periventricular, 1, MIM#300049; Intestinal pseudoobstruction, neuronal, MIM#300048; Melnick-Needles syndrome, MIM#309350; Otopalatodigital syndrome, type I, MIM#311300; Otopalatodigital syndrome, type II, MIM#304120; Terminal osseous dysplasia, MIM#300244
Prepair 1000+ v1.1293 FLNA Zornitza Stark Publications for gene: FLNA were set to
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Gene: pola1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.1292 POLA1 Zornitza Stark Publications for gene: POLA1 were set to
Prepair 1000+ v1.1291 POLA1 Zornitza Stark Tag for review tag was added to gene: POLA1.
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1291 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300 (3) to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Prepair 1000+ v1.1290 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Prepair 1000+ v1.1289 EDA Zornitza Stark Marked gene: EDA as ready
Prepair 1000+ v1.1289 EDA Zornitza Stark Gene: eda has been classified as Green List (High Evidence).
Prepair 1000+ v1.1289 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100
Prepair 1000+ v1.1288 EDA Zornitza Stark Publications for gene: EDA were set to
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1287 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, 242840 (3) to Vici syndrome MIM# 242840
Prepair 1000+ v1.1286 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Marked gene: HACE1 as ready
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Gene: hace1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1285 HACE1 Zornitza Stark Phenotypes for gene: HACE1 were changed from Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive to Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756
Prepair 1000+ v1.1284 HACE1 Zornitza Stark Publications for gene: HACE1 were set to
Prepair 1000+ v1.1283 HES7 Zornitza Stark Marked gene: HES7 as ready
Prepair 1000+ v1.1283 HES7 Zornitza Stark Gene: hes7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1283 HES7 Zornitza Stark Phenotypes for gene: HES7 were changed from Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) to Spondylocostal dysostosis 4, autosomal recessive MIM#60859
Prepair 1000+ v1.1282 HES7 Zornitza Stark Publications for gene: HES7 were set to
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1281 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3) to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084
Prepair 1000+ v1.1280 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Marked gene: TSEN2 as ready
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Gene: tsen2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1279 TSEN2 Zornitza Stark Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia type 2B, 612389 (3) to Pontocerebellar hypoplasia type 2B, MIM #612389
Prepair 1000+ v1.1278 TSEN2 Zornitza Stark Publications for gene: TSEN2 were set to
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1277 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3) to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819
Prepair 1000+ v1.1276 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1275 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from Bardet-Biedl syndrome 8, 615985 (3) to Bardet-Biedl syndrome 8, MIM #615985
Prepair 1000+ v1.1274 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Marked gene: TUBGCP6 as ready
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Gene: tubgcp6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1273 TUBGCP6 Zornitza Stark Phenotypes for gene: TUBGCP6 were changed from Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3) to Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270
Prepair 1000+ v1.1272 TUBGCP6 Zornitza Stark Publications for gene: TUBGCP6 were set to
Prepair 1000+ v1.1271 POMP Zornitza Stark Marked gene: POMP as ready
Prepair 1000+ v1.1271 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Prepair 1000+ v1.1271 POMP Zornitza Stark Publications for gene: POMP were set to
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Tag deep intronic tag was added to gene: TRIP11.
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Gene: trip11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1270 TRIP11 Zornitza Stark Phenotypes for gene: TRIP11 were changed from Achondrogenesis, type IA, 200600 (3) to Achondrogenesis, type IA, MIM#200600
Prepair 1000+ v1.1269 TRIP11 Zornitza Stark Publications for gene: TRIP11 were set to
Prepair 1000+ v1.1268 EDAR Clare Hunt edited their review of gene: EDAR: Changed phenotypes: autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1268 GJA1 Michelle Torres changed review comment from: The GJA1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850.

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358).

Oculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).

NB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM). Pfitzer C 2024 concludes that researchers must move beyond the expectation that a single disease-causing variant can be found (PMID 38884762).; to: The GJA1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant conditions are the AR disorders: Craniometaphyseal dysplasia MIM#218400; Oculodentodigital dysplasia MIM#257850.

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. Characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with CMD (PMID: 23951358). Reports are rare and individuals are homozygous for the p.(Arg239Gln), located in the C-terminus of the GJA1 gene; at least 4x families reported (PMID: 23951358).

Oculodentodigital dysplasia (ODDD) is a rare condition characterised by a typical facial appearance and variable findings of the eyes, teeth, and fingers (PMID: 29902798). ODDD is generally AD (DN and GoF suggested), but rare AR cases have been identified. LoF is associated with AR ODDD (PMID: 29902798), and most variants reported are PTV within the connexin domain (PMID: 34035645).

NB: the association with Hypoplastic left heart syndrome 1, MIM#241550 isn't listed in OMIM anymore, variants associated have been re-classified VUS (OMIM; PMID 38884762).
Prepair 1000+ v1.1268 IL12RB1 Lauren Thomas edited their review of gene: IL12RB1: Changed rating: GREEN
Prepair 1000+ v1.1268 COL7A1 Michelle Torres changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. As noted above, genotype-phenotype correlation is unclear.
Prepair 1000+ v1.1268 COL7A1 Michelle Torres changed review comment from: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering. Relevance for Prepair requires discussion.; to: The COL7A1 gene is associated with dystrophic epidermolysis bullosa (DEB), a genetic skin disorder affecting skin and nails that usually presents at birth.

There are 2 main subtypes: dominant (DDEB) and recessive (RDEB), both with many clinical subtypes. For carrier screening testing, the only relevant subtypes are AR.

Genotype-phenotype correlation is unclear (PMID: 31670143), but variants resulting in complete absence of protein are usually associated with the most severe RDEB (PMID: 32506467). The recessive exon skipping variants are scattered throughout the gene (PMID: 31670143).

NB: Transient bullous of the newborn MIM#131705 is predominantly AD, but AR cases have been reported (PMID: 25639640 Table 1). It has onset at birth, but skin lesions resolve between 6 months and 2 years of age. Some patients have milder persistent blistering.
Prepair 1000+ v1.1268 POMP Lucy Spencer reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 32425927; Phenotypes: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Marked gene: TYK2 as ready
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Gene: tyk2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1268 TYK2 Zornitza Stark Phenotypes for gene: TYK2 were changed from Immunodeficiency 35, 611521 (3) to Immunodeficiency 35, MIM #611521
Prepair 1000+ v1.1267 TYK2 Zornitza Stark Publications for gene: TYK2 were set to
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Marked gene: UBE2A as ready
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Gene: ube2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1266 UBE2A Zornitza Stark Phenotypes for gene: UBE2A were changed from Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3) to Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860
Prepair 1000+ v1.1265 UBE2A Zornitza Stark Publications for gene: UBE2A were set to
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1264 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 (3) to Glycogen storage disease IV, MIM#232500
Prepair 1000+ v1.1263 GCDH Zornitza Stark Marked gene: GCDH as ready
Prepair 1000+ v1.1263 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1263 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, 231670 (3) to Glutaric aciduria, type I, MIM#231670
Prepair 1000+ v1.1262 GCDH Zornitza Stark Publications for gene: GCDH were set to
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Prepair 1000+ v1.1261 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620
Prepair 1000+ v1.1260 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1259 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317
Prepair 1000+ v1.1258 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Prepair 1000+ v1.1257 WDR62 Kate Scarff reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20890279, 20890278, 20729831, 21496009, 21834044, 22775483, 32677750; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HIBCH Crystle Lee reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 33762937; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GCDH Crystle Lee reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788423, 37020324; Phenotypes: Glutaric aciduria, type I, MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GBE1 Crystle Lee reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 UBE2A Kate Scarff reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16909393, 24053514, 21108393, 20412111; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 TYK2 Kate Scarff reviewed gene: TYK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17088085, 26304966, 34569645, 32537443; Phenotypes: Immunodeficiency 35, MIM #611521; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TUBGCP6 Kate Scarff reviewed gene: TUBGCP6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25344692, 22279524, 39634241, 37927319, 37031378; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC8 Kate Scarff reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 14520415, 19797195; Phenotypes: Bardet-Biedl syndrome 8, MIM #615985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC21B Kate Scarff reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21258341, 25492405, 33875766; Phenotypes: Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSEN2 Kate Scarff reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23562994, 20952379, 18711368; Phenotypes: Pontocerebellar hypoplasia type 2B, MIM #612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRNT1 Kate Scarff reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25193871, 23553769, 27389523, 29170023; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HES7 Clare Hunt reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#60859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 HACE1 Clare Hunt reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26437029, 26424145, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EPG5 Melanie Marty reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 EDA Melanie Marty reviewed gene: EDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 27144394, 8696334, 9507389, 9683615, 18657636; Phenotypes: Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100, Tooth agenesis, selective, X-linked 1 MIM#313500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 DOK7 Melanie Marty reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392, 34132406, 37849383; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 POLA1 Michelle Torres reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27019227, 31006512; Phenotypes: Pigmentary disorder, reticulate, with systemic manifestations, X-linked MIM#301220, Van Esch-O'Driscoll syndrome MIM#301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 FLNA Crystle Lee reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 30089473, 26471271, 22366253; Phenotypes: Cardiac valvular dysplasia, X-linked, MIM#314400, Congenital short bowel syndrome, MIM#300048, Frontometaphyseal dysplasia 1, MIM#305620, Heterotopia, periventricular, 1, MIM#300049, Intestinal pseudoobstruction, neuronal, MIM#300048, Melnick-Needles syndrome, MIM#309350, Otopalatodigital syndrome, type I, MIM#311300, Otopalatodigital syndrome, type II, MIM#304120, Terminal osseous dysplasia, MIM#300244; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 YIF1B Michelle Torres reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32006098, 26077767, 33103737, 36948290, 34373908, 39265055; Phenotypes: Kaya-Barakat-Masson syndrome MIM#619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RETREG1 Marta Cifuentes Ochoa reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WFS1 Michelle Torres reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301750, 33946243; Phenotypes: Wolfram syndrome 1 MIM#222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 DHDDS Crystle Lee reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27343064, 21295282; Phenotypes: Retinitis pigmentosa 59, MIM#613861, Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 PTS Marta Cifuentes Ochoa reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 36583021, 36212127, 19830588, 22237589; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640, BH4-deficient hyperphenylalaninemia A, MONDO:0009863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 WARS2 Michelle Torres reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37107582, 37824696; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710, Parkinsonism-dystonia 3, childhood-onset MIM#619738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 GHR Crystle Lee reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 37474955, 20583548, 31429861; Phenotypes: Laron dwarfism, MIM#262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 VMA21 Michelle Torres reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026, 36553512; Phenotypes: Myopathy, X-linked, with excessive autophagy MIM#310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1257 HESX1 Crystle Lee reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16940453; Phenotypes: Septooptic dysplasia, MIM#182230, Pituitary hormone deficiency, combined, 5 MIM#182230, Growth hormone deficiency with pituitary anomalies, MIM#182230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 USB1 Michelle Torres reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29072891; Phenotypes: Poikiloderma with neutropenia MIM#604173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPS6KA3 Crystle Lee reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16879200; Phenotypes: Coffin-Lowry syndrome, MIM#303600, Intellectual developmental disorder, X-linked 19, MIM#300844; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 TYRP1 Michelle Torres reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097, 25093188; Phenotypes: Albinism, oculocutaneous, type III MIM#203290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RPE65 Crystle Lee reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 20, MIM#613794, Leber congenital amaurosis 2, MIM#204100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TTC19 Michelle Torres reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 21278747, 23532514, 24368687, 24397319, 25887401; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2 MIM#615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRAC Michelle Torres reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient MIM#615387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TP53RK Michelle Torres reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4 MIM#617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TNFRSF11A Michelle Torres reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 36031188; Phenotypes: Osteopetrosis, autosomal recessive 7 MIM#612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM67 Michelle Torres reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 29891882, 20232449, 26092869, 27336129; Phenotypes: COACH syndrome 1 MIM#216360, Joubert syndrome 6 MIM#610688, Meckel syndrome 3 MIM#607361, Nephronophthisis 11 MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TRIP11 Kate Scarff reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20089971, 29872333, 31903676, 34057271, 34014608; Phenotypes: Achondrogenesis, type IA, MIM #200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM126A Michelle Torres reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 33879611; Phenotypes: Optic atrophy 7 MIM#612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 COL4A5 Crystle Lee reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36531881, 19965530, 36341250; Phenotypes: Alport syndrome 1, X-linked, MIM#301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.1257 WDR19 Crystle Lee reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: 38163131, 22019273; Phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307, Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376, Cranioectodermal dysplasia 4, MIM# 614378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM138 Kate Scarff changed review comment from: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).; to: Characterized by the molar tooth sign on brain imaging (cerebellar and brain stem malformation), oculomotor apraxia, variable coloboma, and rare kidney involvement, hypotonia and dev delay.
Described in 8 consanguineous Arab families (6 different homozygous mutations).
MIM #614465
Prepair 1000+ v1.1257 UMPS Crystle Lee reviewed gene: UMPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28205048, 33489760; Phenotypes: Orotic aciduria, MIM#258900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM138 Kate Scarff reviewed gene: TMEM138: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22282472, 34354814, 20301500; Phenotypes: Joubert syndrome 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TWNK Crystle Lee changed review comment from: Gene also know as C10ORF2.

MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)

PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations

Allelic conditions, Perrault syndrome is less severe than MTDPS7.; to: Gene also know as C10ORF2.

MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM)

PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations

Allelic conditions, Perrault syndrome is less severe than MTDPS7.
Prepair 1000+ v1.1257 TWNK Crystle Lee reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31852434, 35035228; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245, Perrault syndrome 5, MIM#616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TSFM Crystle Lee reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 33816677, 31267352, 30911037, 27677415; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TALDO1 Michelle Torres reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25388407, 23315216, 29923087, 26238251, 11283793, 30740741; Phenotypes: Transaldolase deficiency MIM#606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 TMEM216 Crystle Lee reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2, MIM#608091, Meckel syndrome 2, MIM#603194, Retinitis pigmentosa 98, MIM#620996, ciliopathy MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SUOX Michelle Torres reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: Sulfite oxidase deficiency MIM#272300; Phenotypes: 9428520, 15952210, 31127934, 39676698, 36303223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 SLC29A3 Michelle Torres reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20619369, 34657628, 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome MIM#602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RSPH1 Michelle Torres reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197, 24568568; Phenotypes: Ciliary dyskinesia, primary, 24 MIM#615481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1257 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from Seckel syndrome 2, 606744 (3) to Jawad syndrome MIM#251255; Seckel syndrome 2 MIM#606744
Prepair 1000+ v1.1256 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1255 RNASEH2B Zornitza Stark Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 (3) to Aicardi-Goutieres syndrome 2 MIM#610181
Prepair 1000+ v1.1254 RNASEH2B Zornitza Stark Publications for gene: RNASEH2B were set to
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Marked gene: RNU4ATAC as ready
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Gene: rnu4atac has been classified as Green List (High Evidence).
Prepair 1000+ v1.1253 RNU4ATAC Zornitza Stark Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3) to RNU4ATAC spectrum disorder MONDO:0100558
Prepair 1000+ v1.1252 RNU4ATAC Zornitza Stark Publications for gene: RNU4ATAC were set to
Prepair 1000+ v1.1251 RNU4ATAC Zornitza Stark Tag for review tag was added to gene: RNU4ATAC.
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1251 ROBO3 Zornitza Stark Phenotypes for gene: ROBO3 were changed from Gaze palsy, horizontal, with progressive scoliosis, 607313 (3) to Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313
Prepair 1000+ v1.1250 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Marked gene: NPHS1 as ready
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Gene: nphs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1249 NPHS1 Zornitza Stark Phenotypes for gene: NPHS1 were changed from Nephrotic syndrome, type 1, 256300 (3) to Nephrotic syndrome, type 1, MIM# 256300
Prepair 1000+ v1.1248 NPHS1 Zornitza Stark Publications for gene: NPHS1 were set to
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1247 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III, 258501 (3) to 3-methylglutaconic aciduria, type III MIM#258501; 3-methylglutaconic aciduria type 3 MONDO:0009787
Prepair 1000+ v1.1246 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Prepair 1000+ v1.1245 RORC Zornitza Stark Marked gene: RORC as ready
Prepair 1000+ v1.1245 RORC Zornitza Stark Gene: rorc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1245 RORC Zornitza Stark Phenotypes for gene: RORC were changed from Immunodeficiency 42, 616622 (3), Autosomal recessive to Immunodeficiency 42 MIM#616622
Prepair 1000+ v1.1244 RORC Zornitza Stark Publications for gene: RORC were set to
Prepair 1000+ v1.1243 PCCB Zornitza Stark Marked gene: PCCB as ready
Prepair 1000+ v1.1243 PCCB Zornitza Stark Gene: pccb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1243 PCCB Zornitza Stark Phenotypes for gene: PCCB were changed from Propionicacidemia, 606054 (3) to Propionicacidemia MIM#606054; propionic acidemia MONDO:0011628
Prepair 1000+ v1.1242 PCCB Zornitza Stark Publications for gene: PCCB were set to
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.1241 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3) to Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940
Prepair 1000+ v1.1240 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1239 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from Peroxisome biogenesis disorder 7A (Zellweger), 614872 to Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938; Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939
Prepair 1000+ v1.1238 PEX26 Zornitza Stark Publications for gene: PEX26 were set to
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1237 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease, 312080 (3) to Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714; Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733
Prepair 1000+ v1.1236 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Prepair 1000+ v1.1235 PROC Marta Cifuentes Ochoa reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31577252, 32980846; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive MIM#612304, MONDO:0012860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PLP1 Marta Cifuentes Ochoa reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361, 22343157, 24095575; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714, Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.1235 PEX26 Marta Cifuentes Ochoa reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717447, 15858711, 17336976; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938, Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCYT1A Marta Cifuentes Ochoa reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28272537, 24387990, 24387991, 24889630; Phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PCCB Marta Cifuentes Ochoa reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7386459, 9683601, 10502773, 35296328; Phenotypes: Propionicacidemia MIM#606054, propionic acidemia MONDO:0011628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RORC Michelle Torres reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376, 32960152; Phenotypes: Immunodeficiency 42 MIM#616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 OPA3 Marta Cifuentes Ochoa reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31928268, 39166438, 11668429; Phenotypes: 3-methylglutaconic aciduria, type III MIM#258501, 3-methylglutaconic aciduria type 3 MONDO:0009787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 NPHS1 Marta Cifuentes Ochoa reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 10972661; Phenotypes: Nephrotic syndrome, type 1, MIM# 256300, congenital nephrotic syndrome, Finnish type MONDO:0009732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 ROBO3 Michelle Torres reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16525029, 15105459; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNU4ATAC Michelle Torres reviewed gene: RNU4ATAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36795902, 26522830; Phenotypes: RNU4ATAC spectrum disorder MONDO:0100558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RNASEH2B Michelle Torres reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16845400, 33307271, 29239743; Phenotypes: Aicardi-Goutieres syndrome 2 MIM#610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 RBBP8 Michelle Torres reviewed gene: RBBP8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26333564, 24440292, 21998596, 24389050, 34270086; Phenotypes: Jawad syndrome MIM#251255, Seckel syndrome 2 MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1235 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from Peroxisome biogenesis disorder 8A, (Zellweger), 614876 to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Peroxisome biogenesis disorder 8B MIM#614877
Prepair 1000+ v1.1234 PEX16 Zornitza Stark Publications for gene: PEX16 were set to
Prepair 1000+ v1.1233 PHYH Zornitza Stark Marked gene: PHYH as ready
Prepair 1000+ v1.1233 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Prepair 1000+ v1.1233 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease, 266500 (3) to Refsum disease MIM#266500
Prepair 1000+ v1.1232 PHYH Zornitza Stark Publications for gene: PHYH were set to
Prepair 1000+ v1.1231 PIGL Zornitza Stark Marked gene: PIGL as ready
Prepair 1000+ v1.1231 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1231 PIGL Zornitza Stark Phenotypes for gene: PIGL were changed from CHIME syndrome, 280000 (3) to CHIME syndrome, MIM# 280000, MONDO:0010221
Prepair 1000+ v1.1230 PIGL Zornitza Stark Publications for gene: PIGL were set to
Prepair 1000+ v1.1229 PIGL Zornitza Stark reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome, MIM# 280000, MONDO:0010221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Marked gene: PYROXD1 as ready
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Gene: pyroxd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1229 PYROXD1 Zornitza Stark Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive to Myopathy, myofibrillar, 8 MIM#617258
Prepair 1000+ v1.1228 PYROXD1 Zornitza Stark Publications for gene: PYROXD1 were set to
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1227 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 6, MIM #618228
Prepair 1000+ v1.1226 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Marked gene: NEU1 as ready
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Gene: neu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1225 NEU1 Zornitza Stark Phenotypes for gene: NEU1 were changed from Sialidosis, type I, 256550 (3) to Sialidosis, type I, MIM #256550; Sialidosis, type II, MIM #256550
Prepair 1000+ v1.1224 NEU1 Zornitza Stark Publications for gene: NEU1 were set to
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Marked gene: NEXMIF as ready
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Gene: nexmif has been classified as Green List (High Evidence).
Prepair 1000+ v1.1223 NEXMIF Zornitza Stark Phenotypes for gene: NEXMIF were changed from Mental retardation, X-linked 98, MIM #300912 to Intellectual developmental disorder, X-linked 98, MIM #300912
Prepair 1000+ v1.1222 NEXMIF Zornitza Stark Publications for gene: NEXMIF were set to
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1221 XYLT1 Zornitza Stark Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2, 615777 (3) to Desbuquois dysplasia 2, MIM#615777
Prepair 1000+ v1.1220 XYLT1 Zornitza Stark Publications for gene: XYLT1 were set to
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1219 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from CK syndrome, 300831 (3) to CK syndrome, MIM#300831
Prepair 1000+ v1.1218 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1217 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3) to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847
Prepair 1000+ v1.1216 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Marked gene: KRT8 as ready
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Gene: krt8 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.1215 KRT8 Zornitza Stark Phenotypes for gene: KRT8 were changed from CIRRHOSIS, FAMILIAL, MIM #215600 to Cirrhosis, cryptogenic, MIM#215600
Prepair 1000+ v1.1214 PDHB Zornitza Stark Marked gene: PDHB as ready
Prepair 1000+ v1.1214 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.1214 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
Prepair 1000+ v1.1213 PDHB Zornitza Stark Publications for gene: PDHB were set to
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1212 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from Peroxisome biogenesis disorder 5A (Zellweger), 614866 to Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866; Peroxisome biogenesis disorder 5B, MIM#614867
Prepair 1000+ v1.1211 PEX2 Zornitza Stark Publications for gene: PEX2 were set to
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Marked gene: PGAP2 as ready
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Gene: pgap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1210 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
Prepair 1000+ v1.1209 PGAP2 Zornitza Stark Publications for gene: PGAP2 were set to
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1208 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100 to Peroxisome biogenesis disorder 1A (Zellweger), MIM#214100
Prepair 1000+ v1.1207 PEX1 Zornitza Stark Publications for gene: PEX1 were set to
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Marked gene: MFSD8 as ready
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Gene: mfsd8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1206 MFSD8 Zornitza Stark Phenotypes for gene: MFSD8 were changed from Ceroid lipofuscinosis, neuronal, 7, 610951 (3) to Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
Prepair 1000+ v1.1205 MFSD8 Zornitza Stark Publications for gene: MFSD8 were set to
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Marked gene: PGAP3 as ready
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1204 PGAP3 Zornitza Stark Phenotypes for gene: PGAP3 were changed from Hyperphosphatasia with mental retardation syndrome 4, 615716 (3) to Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318
Prepair 1000+ v1.1203 PGAP3 Zornitza Stark Publications for gene: PGAP3 were set to
Prepair 1000+ v1.1202 MID1 Zornitza Stark Marked gene: MID1 as ready
Prepair 1000+ v1.1202 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1202 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I, 300000 (3) to Opitz GBBB syndrome MIM#300000; MONDO:0017138
Prepair 1000+ v1.1201 MID1 Zornitza Stark Publications for gene: MID1 were set to
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Marked gene: MMP21 as ready
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Gene: mmp21 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1200 MMP21 Zornitza Stark Phenotypes for gene: MMP21 were changed from Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive to Heterotaxy, visceral, 7, autosomal MIM#616749; MONDO:0014762
Prepair 1000+ v1.1199 MMP21 Zornitza Stark Publications for gene: MMP21 were set to
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Marked gene: PIH1D3 as ready
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1198 PIH1D3 Zornitza Stark Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive to Ciliary dyskinesia, primary, 36, X-linked, MIM #300991
Prepair 1000+ v1.1197 PIH1D3 Zornitza Stark Publications for gene: PIH1D3 were set to
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1196 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from Combined oxidative phosphorylation deficiency 24, 616239 (3) to Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547
Prepair 1000+ v1.1195 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Prepair 1000+ v1.1194 NNT Zornitza Stark Marked gene: NNT as ready
Prepair 1000+ v1.1194 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1194 NNT Zornitza Stark Phenotypes for gene: NNT were changed from Glucocorticoid deficiency 4, 614736 (3) to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; MONDO:0013874
Prepair 1000+ v1.1193 NNT Zornitza Stark Publications for gene: NNT were set to
Prepair 1000+ v1.1192 PSAP Zornitza Stark Marked gene: PSAP as ready
Prepair 1000+ v1.1192 PSAP Zornitza Stark Gene: psap has been classified as Green List (High Evidence).
Prepair 1000+ v1.1192 PSAP Zornitza Stark Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900
Prepair 1000+ v1.1191 PSAP Zornitza Stark Publications for gene: PSAP were set to
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Marked gene: RAB33B as ready
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Gene: rab33b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1190 RAB33B Zornitza Stark Phenotypes for gene: RAB33B were changed from Smith-McCort dysplasia 2, 615222 (3) to Smith-McCort dysplasia 2, MIM #615222
Prepair 1000+ v1.1189 RAB33B Zornitza Stark Publications for gene: RAB33B were set to
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Marked gene: RAB39B as ready
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Gene: rab39b has been classified as Green List (High Evidence).
Prepair 1000+ v1.1188 RAB39B Zornitza Stark Phenotypes for gene: RAB39B were changed from Mental retardation, X-linked 72, 300271 (3) to Intellectual developmental disorder, X-linked 72, MIM #300271
Prepair 1000+ v1.1187 RAB39B Zornitza Stark Publications for gene: RAB39B were set to
Prepair 1000+ v1.1186 RARS Zornitza Stark Marked gene: RARS as ready
Prepair 1000+ v1.1186 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Prepair 1000+ v1.1186 RARS Zornitza Stark Phenotypes for gene: RARS were changed from Leukodystrophy, hypomyelinating, 9, 616140 (3) to Leukodystrophy, hypomyelinating, 9, MIM#616140
Prepair 1000+ v1.1185 RARS Zornitza Stark Publications for gene: RARS were set to
Prepair 1000+ v1.1184 RAX Zornitza Stark Marked gene: RAX as ready
Prepair 1000+ v1.1184 RAX Zornitza Stark Gene: rax has been classified as Green List (High Evidence).
Prepair 1000+ v1.1184 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, 611038 (3) to Microphthalmia, syndromic 16, MIM #611038
Prepair 1000+ v1.1183 RAX Zornitza Stark Publications for gene: RAX were set to
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Marked gene: RBCK1 as ready
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1182 RBCK1 Zornitza Stark Phenotypes for gene: RBCK1 were changed from Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3) to Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895
Prepair 1000+ v1.1181 RBCK1 Zornitza Stark Publications for gene: RBCK1 were set to
Prepair 1000+ v1.1180 RP2 Zornitza Stark Marked gene: RP2 as ready
Prepair 1000+ v1.1180 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1180 RP2 Zornitza Stark Phenotypes for gene: RP2 were changed from Retinitis pigmentosa 2, 312600 (3) to Retinitis pigmentosa 2, MIM#312600
Prepair 1000+ v1.1179 RP2 Zornitza Stark Publications for gene: RP2 were set to
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1178 SLC16A2 Zornitza Stark Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome to Allan-Herndon-Dudley syndrome, MIM #300523
Prepair 1000+ v1.1177 SLC16A2 Zornitza Stark Publications for gene: SLC16A2 were set to
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1176 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) to Anaemia, sideroblastic, 1, MIM #300751
Prepair 1000+ v1.1175 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1174 SLC35D1 Zornitza Stark Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, 269250 (3) to Schneckenbecken dysplasia, MIM#269250
Prepair 1000+ v1.1173 SLC35D1 Zornitza Stark Publications for gene: SLC35D1 were set to
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Marked gene: SPATA7 as ready
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Gene: spata7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1172 SPATA7 Zornitza Stark Phenotypes for gene: SPATA7 were changed from Leber congenital amaurosis 3, 604232 (3) to Leber congenital amaurosis 3, MIM #604232; Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232
Prepair 1000+ v1.1171 SPATA7 Zornitza Stark Publications for gene: SPATA7 were set to
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Marked gene: TAP1 as ready
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Gene: tap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1170 TAP1 Zornitza Stark Phenotypes for gene: TAP1 were changed from Bare lymphocyte syndrome, type I, 604571 (3) to MHC class I deficiency 1, MIM #604571
Prepair 1000+ v1.1169 TAP1 Zornitza Stark Publications for gene: TAP1 were set to
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Marked gene: TMEM107 as ready
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Gene: tmem107 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1168 TMEM107 Zornitza Stark Phenotypes for gene: TMEM107 were changed from Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive to Orofaciodigital syndrome XVI, MIM#617563
Prepair 1000+ v1.1167 TMEM107 Zornitza Stark Publications for gene: TMEM107 were set to
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1166 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from Pontocerebellar hypoplasia, type 6, 611523 (3) to Pontocerebellar hypoplasia, type 6, MIM#611523
Prepair 1000+ v1.1165 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1164 MOCS1 Zornitza Stark Phenotypes for gene: MOCS1 were changed from Molybdenum cofactor deficiency A, 252150 (3) to Molybdenum cofactor deficiency A, MIM#252150
Prepair 1000+ v1.1163 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Marked gene: RDH12 as ready
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1162 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from Leber congenital amaurosis 13, 612712 (3) to Leber congenital amaurosis 13, MIM#612712
Prepair 1000+ v1.1161 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Marked gene: RFXANK as ready
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Gene: rfxank has been classified as Green List (High Evidence).
Prepair 1000+ v1.1160 RFXANK Zornitza Stark Phenotypes for gene: RFXANK were changed from MHC class II deficiency, complementation group B, 209920 (3) to MHC class II deficiency 2, MIM#620815
Prepair 1000+ v1.1159 RFXANK Zornitza Stark Publications for gene: RFXANK were set to
Prepair 1000+ v1.1158 MTR Zornitza Stark Marked gene: MTR as ready
Prepair 1000+ v1.1158 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Prepair 1000+ v1.1158 MTR Zornitza Stark Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940
Prepair 1000+ v1.1157 MTR Zornitza Stark Publications for gene: MTR were set to
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1156 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from Combined oxidative phosphorylation deficiency 11, 614922 (3) to Combined oxidative phosphorylation deficiency 11, MIM#614922
Prepair 1000+ v1.1155 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1154 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from Mitochondrial complex II deficiency, 252011 (3) to Mitochondrial complex II deficiency, nuclear type 2, MIM#619166
Prepair 1000+ v1.1153 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1152 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Prepair 1000+ v1.1151 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1150 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145
Prepair 1000+ v1.1149 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Prepair 1000+ v1.1148 STX11 Zornitza Stark Marked gene: STX11 as ready
Prepair 1000+ v1.1148 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1148 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Prepair 1000+ v1.1147 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) to Hemophagocytic lymphohistiocytosis, familial, 4, MIM#603552
Prepair 1000+ v1.1146 STX11 Zornitza Stark Publications for gene: STX11 were set to
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1145 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from N-terminal acetyltransferase deficiency, 300855 (3) to Ogden syndrome (MIM#300855); Syndromic microphthalmia 1 (MIM#309800)
Prepair 1000+ v1.1144 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Marked gene: TBC1D24 as ready
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Gene: tbc1d24 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1143 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from Epileptic encephalopathy, early infantile, 16, 615338 (3) to Deafness, autosomal recessive 86 MIM#614617; Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Prepair 1000+ v1.1142 TBC1D24 Zornitza Stark Publications for gene: TBC1D24 were set to
Prepair 1000+ v1.1141 NALCN Zornitza Stark Marked gene: NALCN as ready
Prepair 1000+ v1.1141 NALCN Zornitza Stark Gene: nalcn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1141 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) to Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Prepair 1000+ v1.1140 NALCN Zornitza Stark Publications for gene: NALCN were set to
Prepair 1000+ v1.1139 NANS Zornitza Stark Marked gene: NANS as ready
Prepair 1000+ v1.1139 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Prepair 1000+ v1.1139 NANS Zornitza Stark Phenotypes for gene: NANS were changed from Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442)
Prepair 1000+ v1.1138 NANS Zornitza Stark Publications for gene: NANS were set to
Prepair 1000+ v1.1137 TCAP Zornitza Stark Marked gene: TCAP as ready
Prepair 1000+ v1.1137 TCAP Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
Prepair 1000+ v1.1137 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from Muscular dystrophy, limb-girdle, type 2G, 601954 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954
Prepair 1000+ v1.1136 TCAP Zornitza Stark Publications for gene: TCAP were set to
Prepair 1000+ v1.1135 NBN Zornitza Stark Marked gene: NBN as ready
Prepair 1000+ v1.1135 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Prepair 1000+ v1.1135 NBN Zornitza Stark Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 (3) to Nijmegen breakage syndrome, MIM#251260
Prepair 1000+ v1.1134 NBN Zornitza Stark Publications for gene: NBN were set to
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1133 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232)
Prepair 1000+ v1.1132 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1131 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3) to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#263520
Prepair 1000+ v1.1130 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Prepair 1000+ v1.1129 CFI Zornitza Stark Marked gene: CFI as ready
Prepair 1000+ v1.1129 CFI Zornitza Stark Gene: cfi has been classified as Green List (High Evidence).
Prepair 1000+ v1.1129 CFI Zornitza Stark Phenotypes for gene: CFI were changed from Complement factor I deficiency, 610984 (3) to Complement factor I deficiency, MIM#610984
Prepair 1000+ v1.1128 CFI Zornitza Stark Publications for gene: CFI were set to
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1127 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from Multiple mitochondrial dysfunctions syndrome 1, 605711 (3) to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711
Prepair 1000+ v1.1126 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Marked gene: CHST14 as ready
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Gene: chst14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1125 CHST14 Zornitza Stark Phenotypes for gene: CHST14 were changed from Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3) to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776
Prepair 1000+ v1.1124 CHST14 Zornitza Stark Publications for gene: CHST14 were set to
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1123 NMNAT1 Zornitza Stark Phenotypes for gene: NMNAT1 were changed from Leber congenital amaurosis 9, 608553 (3) to Leber congenital amaurosis 9, MIM#608553
Prepair 1000+ v1.1122 NMNAT1 Zornitza Stark Publications for gene: NMNAT1 were set to
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1121 NPR2 Zornitza Stark Publications for gene: NPR2 were set to
Prepair 1000+ v1.1120 PC Zornitza Stark Marked gene: PC as ready
Prepair 1000+ v1.1120 PC Zornitza Stark Gene: pc has been classified as Green List (High Evidence).
Prepair 1000+ v1.1120 PC Zornitza Stark Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, 266150 (3) to Pyruvate carboxylase deficiency (MIM#266150)
Prepair 1000+ v1.1119 PC Zornitza Stark Publications for gene: PC were set to
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.1118 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive to Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280)
Prepair 1000+ v1.1117 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Prepair 1000+ v1.1116 PCNT Zornitza Stark Marked gene: PCNT as ready
Prepair 1000+ v1.1116 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1116 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Prepair 1000+ v1.1115 PCNT Zornitza Stark Publications for gene: PCNT were set to
Prepair 1000+ v1.1114 PIGT Zornitza Stark Marked gene: PIGT as ready
Prepair 1000+ v1.1114 PIGT Zornitza Stark Gene: pigt has been classified as Green List (High Evidence).
Prepair 1000+ v1.1114 PIGT Zornitza Stark Phenotypes for gene: PIGT were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 3 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165
Prepair 1000+ v1.1113 PIGT Zornitza Stark Publications for gene: PIGT were set to
Prepair 1000+ v1.1112 PKLR Zornitza Stark Marked gene: PKLR as ready