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Prepair 1000+ v1.163 MOGS Lilian Downie Gene: mogs has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.163 MOGS Lilian Downie Tag for review tag was added to gene: MOGS.
Prepair 1000+ v1.163 MOGS Lilian Downie Publications for gene: MOGS were set to 30587846; 33058492; 31925597
Prepair 1000+ v1.162 NGLY1 Lilian Downie Marked gene: NGLY1 as ready
Prepair 1000+ v1.162 NGLY1 Lilian Downie Gene: ngly1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.162 NGLY1 Lilian Downie Publications for gene: NGLY1 were set to
Prepair 1000+ v1.161 NKX3-2 Lilian Downie Marked gene: NKX3-2 as ready
Prepair 1000+ v1.161 NKX3-2 Lilian Downie Gene: nkx3-2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.161 NKX3-2 Lilian Downie Publications for gene: NKX3-2 were set to
Prepair 1000+ v1.160 NTNG2 Lilian Downie Marked gene: NTNG2 as ready
Prepair 1000+ v1.160 NTNG2 Lilian Downie Added comment: Comment when marking as ready: To be upgraded to green
Prepair 1000+ v1.160 NTNG2 Lilian Downie Gene: ntng2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.160 NTNG2 Lilian Downie Tag for review tag was added to gene: NTNG2.
Prepair 1000+ v1.160 OBSL1 Lilian Downie Marked gene: OBSL1 as ready
Prepair 1000+ v1.160 OBSL1 Lilian Downie Gene: obsl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.160 OBSL1 Lilian Downie Publications for gene: OBSL1 were set to
Prepair 1000+ v1.159 CEP41 Cassandra Muller reviewed gene: CEP41: Rating: ; Mode of pathogenicity: None; Publications: 22246503, 36580738; Phenotypes: Joubert syndrome 15, 614464 (3); Mode of inheritance: None
Prepair 1000+ v1.159 C1QC Cassandra Muller reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 8630118, 31357913; Phenotypes: C1q deficiency, 613652 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 CEP152 Marta Cifuentes Ochoa reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753, 36685824; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 BTK Marta Cifuentes Ochoa reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 31481959, 15024743, 34182127, 16951917; Phenotypes: Agammaglobulinemia, X-linked 1 MIM#300755, Bruton-type agammaglobulinemia MONDO:0010421, Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.159 HBA2 Andrew Coventry reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345100 12393486 23715323 6725554 6725554 36907606; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 HBA2 Andrew Coventry Deleted their review
Prepair 1000+ v1.159 HBA2 Andrew Coventry changed review comment from: Well established and strong gene-disease association. Alpha-thalassemia result in anaemias from early childhood when fetal haemoglobin expression is diminished. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.

Subtypes:
Haemoglobin H disease is a subtype of alpha-thalassemia:
Deletional' Hb H disease is caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia.
Deletional Haemoglobin H - phenotypic variability ranging from asymptomatic, to needing periodic transfusions, to severe anaemia with haemolysis and hepatosplenomegaly, to fatal hydrops fetalis in utero. Variable age of onset and features - see PMID: 21345100

'Nondeletional' Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Disease phenotype is usually are greater levels of anaemia, more symptomatic, more likely to have significant hepatosplenomegaly, and greater likelihood to require transfusions.

Note: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent.; to: Well established gene-disease association. The alpha-thalassemia phenotype ranges from asymptomatic to lethal. The severity of the disorder is usually well correlated with the number of non-functional copies of the alpha-globin genes (HBA1/HBA2). Gene function can be lost by deletion, or by SNVs (total loss or partial).The clinically relevant forms of alpha-thalassemia usually involve alpha(0)-thalassemia, either coinherited with alpha(+)-thalassemia and resulting in HbH disease, or inherited from both parents and resulting in haemoglobin Bart hydrops fetalis.

Note: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent.
Prepair 1000+ v1.159 HBA1 Andrew Coventry reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21381239 11722414 36907606; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 BRF1 Marta Cifuentes Ochoa reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960, 33645901, 32896090, 34628026; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202, Cerebellar-facial-dental syndrome MONDO:0014529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 BRF1 Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.159 BRF1 Marta Cifuentes Ochoa reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960, 33645901, 32896090, 34628026; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202, Cerebellar-facial-dental syndrome MONDO:0014529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 HBA2 Andrew Coventry reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345100 12393486 23715323 6725554 6725554; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, deletional and nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 B4GALT7 Marta Cifuentes Ochoa reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31614862, 34193099, 26940150; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070, MONDO:0020682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 AUH Marta Cifuentes Ochoa reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950, MONDO:0009610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 AUH Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.159 AUH Marta Cifuentes Ochoa reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I MIM#250950, MONDO:0009610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 ASCC1 Marta Cifuentes Ochoa reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy, spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807, SMABF2 MIM#616867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.159 PGM1 Lilian Downie Marked gene: PGM1 as ready
Prepair 1000+ v1.159 PGM1 Lilian Downie Gene: pgm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.159 PGM1 Lilian Downie Publications for gene: PGM1 were set to
Prepair 1000+ v1.158 ORC1 Lilian Downie Marked gene: ORC1 as ready
Prepair 1000+ v1.158 ORC1 Lilian Downie Gene: orc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.158 ORC1 Lilian Downie Publications for gene: ORC1 were set to
Prepair 1000+ v1.157 PGM3 Lilian Downie Marked gene: PGM3 as ready
Prepair 1000+ v1.157 PGM3 Lilian Downie Gene: pgm3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.157 PGM3 Lilian Downie Publications for gene: PGM3 were set to
Prepair 1000+ v1.156 PIGA Lilian Downie Publications for gene: PIGA were set to
Prepair 1000+ v1.155 PIGA Lilian Downie Marked gene: PIGA as ready
Prepair 1000+ v1.155 PIGA Lilian Downie Gene: piga has been classified as Green List (High Evidence).
Prepair 1000+ v1.155 PIGA Lilian Downie Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072
Prepair 1000+ v1.154 PLPBP Lilian Downie Marked gene: PLPBP as ready
Prepair 1000+ v1.154 PLPBP Lilian Downie Gene: plpbp has been classified as Green List (High Evidence).
Prepair 1000+ v1.154 PLPBP Lilian Downie Publications for gene: PLPBP were set to
Prepair 1000+ v1.153 PMM2 Lilian Downie Marked gene: PMM2 as ready
Prepair 1000+ v1.153 PMM2 Lilian Downie Gene: pmm2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.153 PMM2 Lilian Downie Publications for gene: PMM2 were set to
Prepair 1000+ v1.152 RAB3GAP1 Lilian Downie Marked gene: RAB3GAP1 as ready
Prepair 1000+ v1.152 RAB3GAP1 Lilian Downie Gene: rab3gap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.152 RIN2 Lilian Downie Marked gene: RIN2 as ready
Prepair 1000+ v1.152 RIN2 Lilian Downie Gene: rin2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.152 RIN2 Lilian Downie Publications for gene: RIN2 were set to
Prepair 1000+ v1.151 RNASEH2C Lilian Downie Marked gene: RNASEH2C as ready
Prepair 1000+ v1.151 RNASEH2C Lilian Downie Gene: rnaseh2c has been classified as Green List (High Evidence).
Prepair 1000+ v1.151 RNASEH2C Lilian Downie Publications for gene: RNASEH2C were set to
Prepair 1000+ v1.150 SGCG Lilian Downie Marked gene: SGCG as ready
Prepair 1000+ v1.150 SGCG Lilian Downie Gene: sgcg has been classified as Green List (High Evidence).
Prepair 1000+ v1.150 SGCG Lilian Downie Publications for gene: SGCG were set to
Prepair 1000+ v1.149 SLC46A1 Lilian Downie Marked gene: SLC46A1 as ready
Prepair 1000+ v1.149 SLC46A1 Lilian Downie Gene: slc46a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.149 SLC46A1 Lilian Downie Publications for gene: SLC46A1 were set to
Prepair 1000+ v1.148 SUCLG1 Lilian Downie Marked gene: SUCLG1 as ready
Prepair 1000+ v1.148 SUCLG1 Lilian Downie Gene: suclg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.148 SUCLG1 Lilian Downie Publications for gene: SUCLG1 were set to
Prepair 1000+ v1.147 SURF1 Lilian Downie Marked gene: SURF1 as ready
Prepair 1000+ v1.147 SURF1 Lilian Downie Added comment: Comment when marking as ready: Consider most appropriate name- literature commonly refers to as Leigh syndrome but MIM 256000 doesn't have SURF1 attached to it. No overarching MONDO. Maybe MItochondrial complex IV deficiency MIM220110 is the most appropriate
Prepair 1000+ v1.147 SURF1 Lilian Downie Gene: surf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.147 SURF1 Lilian Downie Tag for review tag was added to gene: SURF1.
Prepair 1000+ v1.147 SURF1 Lilian Downie Publications for gene: SURF1 were set to
Prepair 1000+ v1.146 TPK1 Lilian Downie Marked gene: TPK1 as ready
Prepair 1000+ v1.146 TPK1 Lilian Downie Gene: tpk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.146 TPK1 Lilian Downie Publications for gene: TPK1 were set to
Prepair 1000+ v1.145 TUBGCP4 Lilian Downie Marked gene: TUBGCP4 as ready
Prepair 1000+ v1.145 TUBGCP4 Lilian Downie Gene: tubgcp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.145 TUBGCP4 Lilian Downie Publications for gene: TUBGCP4 were set to
Prepair 1000+ v1.144 TUFM Lilian Downie Marked gene: TUFM as ready
Prepair 1000+ v1.144 TUFM Lilian Downie Added comment: Comment when marking as ready: PMID: 37433570 can have a milder, later onset
Prepair 1000+ v1.144 TUFM Lilian Downie Gene: tufm has been classified as Green List (High Evidence).
Prepair 1000+ v1.144 TUFM Lilian Downie Publications for gene: TUFM were set to
Prepair 1000+ v1.143 CSMD1 Krithika Murali gene: CSMD1 was added
gene: CSMD1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to PMID:38816421
Phenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CSMD1 was set to GREEN
Added comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.

Loss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP.
Sources: Literature
Prepair 1000+ v1.142 ATP8B1 Cassandra Muller reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, 211600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 ASNS Cassandra Muller reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24139043, 27469131, 29375865, 28776279; Phenotypes: Asparagine synthetase deficiency, 615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 ARL13B Cassandra Muller reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38219074, 18674751, 25138100, 26092869, 27894351, 29255182; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 ARFGEF2 Cassandra Muller reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912, 23755938; Phenotypes: Periventricular heterotopia with microcephaly, 608097 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 APOPT1 Cassandra Muller reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347, 32637636; Phenotypes: Mitochondrial complex IV deficiency, 220110 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 B3GLCT Karina Sandoval reviewed gene: B3GLCT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23161355, 18798333, 19796186, 32533185, 32204707, 31795264, 20301637, 16909395; Phenotypes: Peters-plus syndrome(MIM#261540); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 B3GALT6 Karina Sandoval reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23664117, 29931299, 29443383, 23664118, 28306229, 25149931; Phenotypes: Al-Gazali syndrome(MIM#609465), Ehlers-Danlos syndrome, spondylodysplastic type, 2(MIM#615349), Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures(MIM#271640); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.142 MFRP Zornitza Stark Marked gene: MFRP as ready
Prepair 1000+ v1.142 MFRP Zornitza Stark Added comment: Comment when marking as ready: Promote to Green for V2.
Prepair 1000+ v1.142 MFRP Zornitza Stark Gene: mfrp has been classified as Red List (Low Evidence).
Prepair 1000+ v1.142 MFRP Zornitza Stark gene: MFRP was added
gene: MFRP was added to Prepair 1000+. Sources: Expert Review
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFRP were set to 17167404; 18554571; 20361016
Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040
Review for gene: MFRP was set to GREEN
Added comment: More than 10 unrelated families reported with bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Causes congenital visual impairment.
Sources: Expert Review
Prepair 1000+ v1.141 USP9X Lilian Downie Marked gene: USP9X as ready
Prepair 1000+ v1.141 USP9X Lilian Downie Gene: usp9x has been classified as Green List (High Evidence).
Prepair 1000+ v1.141 USP9X Lilian Downie Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, 300919 (3) to Intellectual developmental disorder, X-linked 99, MIM#300919
Prepair 1000+ v1.140 USP9X Lilian Downie Publications for gene: USP9X were set to
Prepair 1000+ v1.139 USP9X Lilian Downie Added comment: Comment on mode of inheritance: X-linked dominant, females can be severely affected
Prepair 1000+ v1.139 USP9X Lilian Downie Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v1.138 USP9X Lilian Downie Mode of inheritance for gene: USP9X 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+ v1.137 VLDLR Lilian Downie Marked gene: VLDLR as ready
Prepair 1000+ v1.137 VLDLR Lilian Downie Gene: vldlr has been classified as Green List (High Evidence).
Prepair 1000+ v1.137 VLDLR Lilian Downie Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) to Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome MIM#224050
Prepair 1000+ v1.136 VLDLR Lilian Downie Publications for gene: VLDLR were set to
Prepair 1000+ v1.135 WDR45B Lilian Downie Marked gene: WDR45B as ready
Prepair 1000+ v1.135 WDR45B Lilian Downie Gene: wdr45b has been classified as Green List (High Evidence).
Prepair 1000+ v1.135 WDR45B Lilian Downie Publications for gene: WDR45B were set to
Prepair 1000+ v1.134 WNT1 Lilian Downie Marked gene: WNT1 as ready
Prepair 1000+ v1.134 WNT1 Lilian Downie Gene: wnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.134 WNT1 Lilian Downie Publications for gene: WNT1 were set to
Prepair 1000+ v1.133 COX20 Lilian Downie Phenotypes for gene: COX20 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054
Prepair 1000+ v1.132 COX20 Lilian Downie Marked gene: COX20 as ready
Prepair 1000+ v1.132 COX20 Lilian Downie Gene: cox20 has been classified as Green List (High Evidence).
Prepair 1000+ v1.132 COX20 Lilian Downie Publications for gene: COX20 were set to
Prepair 1000+ v1.131 CPT2 Lilian Downie Marked gene: CPT2 as ready
Prepair 1000+ v1.131 CPT2 Lilian Downie Gene: cpt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.131 CPT2 Lilian Downie Phenotypes for gene: CPT2 were changed from CPT II deficiency, lethal neonatal, 608836 (3) to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110
Prepair 1000+ v1.130 CPT2 Lilian Downie Publications for gene: CPT2 were set to
Prepair 1000+ v1.129 DHODH Lilian Downie Marked gene: DHODH as ready
Prepair 1000+ v1.129 DHODH Lilian Downie Gene: dhodh has been classified as Green List (High Evidence).
Prepair 1000+ v1.129 DHODH Lilian Downie Publications for gene: DHODH were set to
Prepair 1000+ v1.128 ACADM Lilian Downie Marked gene: ACADM as ready
Prepair 1000+ v1.128 ACADM Lilian Downie Gene: acadm has been classified as Green List (High Evidence).
Prepair 1000+ v1.128 ACADM Lilian Downie Publications for gene: ACADM were set to
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Marked gene: ERCC6L2 as ready
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Gene: ercc6l2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.127 ERCC6L2 Lilian Downie Publications for gene: ERCC6L2 were set to
Prepair 1000+ v1.126 ADAT3 Lilian Downie Marked gene: ADAT3 as ready
Prepair 1000+ v1.126 ADAT3 Lilian Downie Gene: adat3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.126 ADAT3 Lilian Downie Phenotypes for gene: ADAT3 were changed from Mental retardation, autosomal recessive 36, 615286 (3) to Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286
Prepair 1000+ v1.125 ADAT3 Lilian Downie Publications for gene: ADAT3 were set to
Prepair 1000+ v1.124 CYP11A1 Lilian Downie Marked gene: CYP11A1 as ready
Prepair 1000+ v1.124 CYP11A1 Lilian Downie Gene: cyp11a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.124 CYP11A1 Lilian Downie Publications for gene: CYP11A1 were set to
Prepair 1000+ v1.123 ARMC4 Lilian Downie Marked gene: ARMC4 as ready
Prepair 1000+ v1.123 ARMC4 Lilian Downie Added comment: Comment when marking as ready: Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or laterality defects. Ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm
Prepair 1000+ v1.123 ARMC4 Lilian Downie Gene: armc4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.123 ARMC4 Lilian Downie Publications for gene: ARMC4 were set to
Prepair 1000+ v1.122 ARV1 Lilian Downie Marked gene: ARV1 as ready
Prepair 1000+ v1.122 ARV1 Lilian Downie Added comment: Comment when marking as ready: Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur.
Prepair 1000+ v1.122 ARV1 Lilian Downie Gene: arv1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.122 BUB1B Zornitza Stark Marked gene: BUB1B as ready
Prepair 1000+ v1.122 BUB1B Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.122 BUB1B Zornitza Stark Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1, 257300 (3) to Mosaic variegated aneuploidy syndrome 1, MIM# 257300
Prepair 1000+ v1.121 BUB1B Zornitza Stark Publications for gene: BUB1B were set to
Prepair 1000+ v1.120 C12orf57 Zornitza Stark Marked gene: C12orf57 as ready
Prepair 1000+ v1.120 C12orf57 Zornitza Stark Gene: c12orf57 has been classified as Green List (High Evidence).
Prepair 1000+ v1.120 C12orf57 Zornitza Stark Phenotypes for gene: C12orf57 were changed from Temtamy syndrome, 218340 (3) to Temtamy syndrome, MIM # 218340
Prepair 1000+ v1.119 C12orf57 Zornitza Stark Publications for gene: C12orf57 were set to
Prepair 1000+ v1.118 C12orf57 Zornitza Stark Tag founder tag was added to gene: C12orf57.
Prepair 1000+ v1.118 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Prepair 1000+ v1.118 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.118 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Prepair 1000+ v1.117 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Prepair 1000+ v1.117 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.117 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from Lethal congenital contracture syndrome 7, 616286 (3) to Lethal congenital contracture syndrome 7, MIM # 616286; Hypomyelinating neuropathy, congenital, 3, MIM # 618186
Prepair 1000+ v1.116 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Prepair 1000+ v1.115 COG7 Zornitza Stark Marked gene: COG7 as ready
Prepair 1000+ v1.115 COG7 Zornitza Stark Gene: cog7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.115 COG7 Zornitza Stark Phenotypes for gene: COG7 were changed from Congenital disorder of glycosylation, type IIe, 608779 (3) to Congenital disorder of glycosylation, type IIe, MIM # 608779
Prepair 1000+ v1.114 COG7 Zornitza Stark Publications for gene: COG7 were set to
Prepair 1000+ v1.113 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Prepair 1000+ v1.113 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.113 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from 17,20-lyase deficiency, isolated, 202110 (3) to 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110
Prepair 1000+ v1.112 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Prepair 1000+ v1.111 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Prepair 1000+ v1.111 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.111 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive, 615030 (3) to Spastic paraplegia 56, autosomal recessive MIM#615030
Prepair 1000+ v1.110 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Prepair 1000+ v1.109 DCX Zornitza Stark Marked gene: DCX as ready
Prepair 1000+ v1.109 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Prepair 1000+ v1.109 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Lissencephaly, X-linked, 300067 (3) to Lissencephaly, X-linked MIM#300067; Subcortical laminal heterotopia, X-linked MIM#300067
Prepair 1000+ v1.108 DCX Zornitza Stark Publications for gene: DCX were set to
Prepair 1000+ v1.107 DDX59 Zornitza Stark Marked gene: DDX59 as ready
Prepair 1000+ v1.107 DDX59 Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence).
Prepair 1000+ v1.107 DDX59 Zornitza Stark Publications for gene: DDX59 were set to
Prepair 1000+ v1.106 EIF2AK3 Zornitza Stark Marked gene: EIF2AK3 as ready
Prepair 1000+ v1.106 EIF2AK3 Zornitza Stark Gene: eif2ak3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.106 EIF2AK3 Zornitza Stark Phenotypes for gene: EIF2AK3 were changed from Wolcott-Rallison syndrome, 226980 (3) to Wolcott-Rallison syndrome MIM#226980
Prepair 1000+ v1.105 EIF2AK3 Zornitza Stark Publications for gene: EIF2AK3 were set to
Prepair 1000+ v1.104 ASPM Zornitza Stark Marked gene: ASPM as ready
Prepair 1000+ v1.104 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Prepair 1000+ v1.104 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from Microcephaly 5, primary, autosomal recessive, 608716 (3) to Microcephaly 5, primary, autosomal recessive (MIM#608716)
Prepair 1000+ v1.103 ASPM Zornitza Stark Publications for gene: ASPM were set to
Prepair 1000+ v1.102 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Prepair 1000+ v1.102 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Prepair 1000+ v1.102 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Menkes disease, 309400 (3) to Menkes disease(MIM#309400); Occipital horn syndrome(MIM#304150)
Prepair 1000+ v1.101 ATP7A Zornitza Stark Publications for gene: ATP7A were set to
Prepair 1000+ v1.100 ADAMTS2 Zornitza Stark Marked gene: ADAMTS2 as ready
Prepair 1000+ v1.100 ADAMTS2 Zornitza Stark Gene: adamts2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.100 ADAMTS2 Zornitza Stark Phenotypes for gene: ADAMTS2 were changed from Ehlers-Danlos syndrome, type VIIC, 225410 (3) to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
Prepair 1000+ v1.99 ADAMTS2 Zornitza Stark Publications for gene: ADAMTS2 were set to
Prepair 1000+ v1.98 ADAMTS2 Zornitza Stark changed review comment from: Congenital onset, severe CTD.; to: Congenital onset, marked joint hyper mobility, skin abnormalities, risk of organ rupture.
Prepair 1000+ v1.98 ADAMTS2 Zornitza Stark reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.98 AGRN Zornitza Stark Marked gene: AGRN as ready
Prepair 1000+ v1.98 AGRN Zornitza Stark Gene: agrn has been classified as Green List (High Evidence).
Prepair 1000+ v1.98 AGRN Zornitza Stark Publications for gene: AGRN were set to
Prepair 1000+ v1.97 ARSA Zornitza Stark Marked gene: ARSA as ready
Prepair 1000+ v1.97 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Prepair 1000+ v1.97 ARSA Zornitza Stark Publications for gene: ARSA were set to
Prepair 1000+ v1.96 ATAD1 Zornitza Stark Marked gene: ATAD1 as ready
Prepair 1000+ v1.96 ATAD1 Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.96 ATAD1 Zornitza Stark Phenotypes for gene: ATAD1 were changed from Hyperekplexia 4, 618011 (3), Autosomal recessive to Hyperekplexia 4, MIM#618011
Prepair 1000+ v1.95 ATAD1 Zornitza Stark Publications for gene: ATAD1 were set to
Prepair 1000+ v1.94 ATR Zornitza Stark Marked gene: ATR as ready
Prepair 1000+ v1.94 ATR Zornitza Stark Gene: atr has been classified as Green List (High Evidence).
Prepair 1000+ v1.94 ATR Zornitza Stark Phenotypes for gene: ATR were changed from Seckel syndrome 1, 210600 (3) to Seckel syndrome 1(MIM#210600)
Prepair 1000+ v1.93 ATR Zornitza Stark Publications for gene: ATR were set to
Prepair 1000+ v1.92 ATP8A2 Zornitza Stark Marked gene: ATP8A2 as ready
Prepair 1000+ v1.92 ATP8A2 Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.92 ATP8A2 Zornitza Stark Phenotypes for gene: ATP8A2 were changed from ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 to Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268)
Prepair 1000+ v1.91 ATP8A2 Zornitza Stark Publications for gene: ATP8A2 were set to
Prepair 1000+ v1.90 ABCA3 Zornitza Stark Marked gene: ABCA3 as ready
Prepair 1000+ v1.90 ABCA3 Zornitza Stark Gene: abca3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.90 ABCA3 Zornitza Stark Publications for gene: ABCA3 were set to
Prepair 1000+ v1.89 ADAR Zornitza Stark Marked gene: ADAR as ready
Prepair 1000+ v1.89 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Prepair 1000+ v1.89 DYNC1I2 Zornitza Stark Marked gene: DYNC1I2 as ready
Prepair 1000+ v1.89 DYNC1I2 Zornitza Stark Added comment: Comment when marking as ready: Ready to be promoted to Green at next version.
Prepair 1000+ v1.89 DYNC1I2 Zornitza Stark Gene: dync1i2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.89 CTSC Zornitza Stark Marked gene: CTSC as ready
Prepair 1000+ v1.89 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Prepair 1000+ v1.89 CTSC Zornitza Stark Phenotypes for gene: CTSC were changed from Papillon-Lefevre syndrome, 245000 (3) to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000
Prepair 1000+ v1.88 CTSC Zornitza Stark reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.88 CERKL Zornitza Stark Marked gene: CERKL as ready
Prepair 1000+ v1.88 CERKL Zornitza Stark Gene: cerkl has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.88 CERKL Zornitza Stark Tag for review tag was added to gene: CERKL.
Prepair 1000+ v1.88 RMRP Lilian Downie Marked gene: RMRP as ready
Prepair 1000+ v1.88 RMRP Lilian Downie Added comment: Comment when marking as ready: A range of phenotypes from mild skeletal dysplasia to a severe (anauxetic dysplasia), there is not a clear genotype phenotype correlation, however loss of function variants are more often reported in the severe phenotypes
Prepair 1000+ v1.88 RMRP Lilian Downie Gene: rmrp has been classified as Green List (High Evidence).
Prepair 1000+ v1.88 RMRP Lilian Downie Publications for gene: RMRP were set to
Prepair 1000+ v1.87 CCDC103 Lilian Downie Marked gene: CCDC103 as ready
Prepair 1000+ v1.87 CCDC103 Lilian Downie Gene: ccdc103 has been classified as Green List (High Evidence).
Prepair 1000+ v1.87 CCDC103 Lilian Downie Publications for gene: CCDC103 were set to
Prepair 1000+ v1.86 AKR1D1 Lilian Downie Marked gene: AKR1D1 as ready
Prepair 1000+ v1.86 AKR1D1 Lilian Downie Gene: akr1d1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.86 AKR1D1 Lilian Downie Publications for gene: AKR1D1 were set to
Prepair 1000+ v1.85 AMT Lilian Downie Marked gene: AMT as ready
Prepair 1000+ v1.85 AMT Lilian Downie Gene: amt has been classified as Green List (High Evidence).
Prepair 1000+ v1.85 AMT Lilian Downie Publications for gene: AMT were set to
Prepair 1000+ v1.84 AMT Lilian Downie reviewed gene: AMT: Rating: ; Mode of pathogenicity: None; Publications: PMID: 16450403,; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.84 ALG9 Lilian Downie Marked gene: ALG9 as ready
Prepair 1000+ v1.84 ALG9 Lilian Downie Gene: alg9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.84 ALG9 Lilian Downie Publications for gene: ALG9 were set to
Prepair 1000+ v1.83 ATOH7 Lilian Downie Marked gene: ATOH7 as ready
Prepair 1000+ v1.83 ATOH7 Lilian Downie Gene: atoh7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.83 ATOH7 Lilian Downie Publications for gene: ATOH7 were set to
Prepair 1000+ v1.82 ADAR Lisa Norbart reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM#615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ABCA3 Lisa Norbart reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15044640; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 3, MIM#610921; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ATP8A2 Ee Ming Wong reviewed gene: ATP8A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ATR Karina Sandoval reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928, 23111928; Phenotypes: Seckel syndrome 1(MIM#210600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ATOH7 Ee Ming Wong reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ALG9 Cassandra Muller reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364, 30676690, 36326140; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ATAD1 Ee Ming Wong reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28180185, 29390050, 29659736; Phenotypes: Hyperekplexia 4, MIM#618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ARSA Ee Ming Wong reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25987178, 23348427, 33195324; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 AKR1D1 Ee Ming Wong changed review comment from: Well established gene-disease association.
Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.
Severe condition with congenital onset, leads to liver failure.; to: Well established gene-disease association.
Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.
Severe condition with congenital onset, leads to liver failure.
Prepair 1000+ v1.82 AKR1D1 Ee Ming Wong reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12970144, 20522910, 30373615; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 AGRN Cassandra Muller reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631309, 22205389, 32221959; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ADAMTS2 Ee Ming Wong reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.82 ATP7A Karina Sandoval reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170900, 33137485, 31969342, 31558336, 7842019, 8981948; Phenotypes: Menkes disease(MIM#309400), Occipital horn syndrome(MIM#304150); 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+ v1.82 ATP13A2 Karina Sandoval reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868101, 21362476, 31588715, 22388936; Phenotypes: Kufor-Rakeb syndrome (MIM#606693); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 ASPM Karina Sandoval reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 18452193, 19332161, 19770472, 27250695, 29243349; Phenotypes: Microcephaly 5, primary, autosomal recessive (MIM#608716); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 EIF2AK3 Andrew Coventry reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183 12960215 16813601 11997520 20202148 11430819; Phenotypes: Wolcott-Rallison syndrome MIM#226980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 DDX59 Andrew Coventry reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 28711741 29127725 23972372 28289185; Phenotypes: Orofaciodigital syndrome V MIM#174300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 DCX Andrew Coventry reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10915612 9489699 12552055 20301364 14625554; Phenotypes: Lissencephaly, X-linked MIM#300067, Subcortical laminal heterotopia, X-linked MIM#300067; 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+ v1.82 CYP2U1 Andrew Coventry reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821 32006740 29034544 26914923 24337409 28725025; Phenotypes: Spastic paraplegia 56, autosomal recessive MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CYP17A1 Andrew Coventry changed review comment from: Established gene-disease association. Congenital onset. More than 100 families reported. Mechanism impacts hormone production in gonads and adrenal glands. Phenotype typically includes hypertension, low blood potassium, and abnormal development of sexual characteristics including genitalia (disorder of sexual development) in both males and females. Phenotypic spectrum for those affected is variable.; to: Established gene-disease association. Congenital onset. More than 100 families reported. Mechanism impacts hormone production in gonads and adrenal glands. Phenotype typically includes hypertension, low blood potassium, and abnormal development of sexual characteristics including genitalia (disorder of sexual development) in both males and females. Phenotypic spectrum of severity for those affected is variable.
Prepair 1000+ v1.82 CYP17A1 Andrew Coventry reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762 14671162 2026124 35178494 35043964; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 COG7 Kate Scarff reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15107842, 17356545, 28883096, 17395513, 16151902; Phenotypes: Congenital disorder of glycosylation, type IIe, MIM # 608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CNTNAP1 Kate Scarff reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28374019, 29511323, 29882456, 27668699; Phenotypes: Lethal congenital contracture syndrome 7, MIM # 616286, Hypomyelinating neuropathy, congenital, 3, MIM # 618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CHST3 Kate Scarff reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM # 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CCDC103 Kate Scarff reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22581229, 32447765, 31858719, 28790179; Phenotypes: Primary ciliary dyskinesia-17, MIM # 614679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 C12orf57 Kate Scarff reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453666, 29383837, 31853307; Phenotypes: Temtamy syndrome, MIM # 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.82 CNNM4 Lilian Downie Marked gene: CNNM4 as ready
Prepair 1000+ v1.82 CNNM4 Lilian Downie Gene: cnnm4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.82 CNNM4 Lilian Downie Publications for gene: CNNM4 were set to
Prepair 1000+ v1.81 CNGB3 Lilian Downie Marked gene: CNGB3 as ready
Prepair 1000+ v1.81 CNGB3 Lilian Downie Gene: cngb3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.81 CNGB3 Lilian Downie Publications for gene: CNGB3 were set to
Prepair 1000+ v1.80 CNGB3 Lilian Downie Tag SV/CNV tag was added to gene: CNGB3.
Prepair 1000+ v1.80 CLP1 Lilian Downie Marked gene: CLP1 as ready
Prepair 1000+ v1.80 CLP1 Lilian Downie Gene: clp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.80 CLP1 Lilian Downie Publications for gene: CLP1 were set to
Prepair 1000+ v1.79 B3GAT3 Lilian Downie Marked gene: B3GAT3 as ready
Prepair 1000+ v1.79 B3GAT3 Lilian Downie Gene: b3gat3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.79 B3GAT3 Lilian Downie Publications for gene: B3GAT3 were set to
Prepair 1000+ v1.78 CLN6 Lilian Downie Marked gene: CLN6 as ready
Prepair 1000+ v1.78 CLN6 Lilian Downie Gene: cln6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.78 CLN6 Lilian Downie Publications for gene: CLN6 were set to
Prepair 1000+ v1.77 CLDN1 Lilian Downie Marked gene: CLDN1 as ready
Prepair 1000+ v1.77 CLDN1 Lilian Downie Gene: cldn1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.77 CLDN1 Lilian Downie Publications for gene: CLDN1 were set to
Prepair 1000+ v1.76 CLCNKB Lilian Downie Tag for review tag was added to gene: CLCNKB.
Prepair 1000+ v1.76 BUB1B Kate Scarff reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18548531; Phenotypes: Mosaic variegated aneuploidy syndrome 1, MIM# 257300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CLCNKB Lilian Downie Marked gene: CLCNKB as ready
Prepair 1000+ v1.76 CLCNKB Lilian Downie Added comment: Comment when marking as ready: The digenic inheritance is not clearly proven, patients with variants in both genes also had biallelic variants in this gene which is just as likely to have been the cause. Not enough evidence to report in carrier screening as a digenic condition. PMID: 18310267
Prepair 1000+ v1.76 CLCNKB Lilian Downie Gene: clcnkb has been classified as Green List (High Evidence).
Prepair 1000+ v1.76 ARV1 Marta Cifuentes Ochoa reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065, 34017911, 34296759; Phenotypes: Developmental and epileptic encephalopathy 38 MIM#617020 MONDO:0014868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ARMC4 Marta Cifuentes Ochoa reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31765523, 23849778; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451 primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 AMT Marta Cifuentes Ochoa reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27362913, 16450403, 30350008, 26179960, 20301531, 25231368, 35646099; Phenotypes: Nonketotic Hyperglycinemia, Glycine encephalopathy MIM#620398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CYP11A1 Andrew Coventry reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514 16705068 18182448 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CNNM4 Andrew Coventry reviewed gene: CNNM4: Rating: ; Mode of pathogenicity: None; Publications: 30705057 29421294 19200527 19200525; Phenotypes: Jalili syndrome MIM#217080; Mode of inheritance: None
Prepair 1000+ v1.76 CNGB3 Andrew Coventry reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17265047 28795510 12140185 28795510; Phenotypes: Achromatopsia 3 MIM#262300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CLP1 Andrew Coventry reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809 24766810 23474986 29307788; Phenotypes: Pontocerebellar hypoplasia, type 10 MIM#615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ADAT3 Cassandra Muller changed review comment from: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met))
Other features can include microcephaly, growth failure, epilepsy.; to: 20+ unrelated Arab families reported in the literature with the same homozygous missense variant in this gene causing intellectual disability (p.(Val128Met)). One known family with a different variant in the same gene.
Other features can include microcephaly, growth failure, epilepsy.
Prepair 1000+ v1.76 ADAT3 Cassandra Muller reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286, 30296593, 35118659; Phenotypes: Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ERCC6L2 Lucy Spencer reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37696499, 29987015; Phenotypes: Bone marrow failure syndrome 2 MIM#615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 DYNC1I2 Lucy Spencer reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31079899; Phenotypes: Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 ACADM Cassandra Muller reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158144; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 DHODH Lucy Spencer reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CTSC Lucy Spencer reviewed gene: CTSC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Haim-Munk syndrome MIM#245010, Papillon-Lefevre syndrome MIM#245000, Periodontitis 1, juvenile MIM#170650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CPT2 Lucy Spencer reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32295037; Phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 COX20 Lucy Spencer reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751098; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CLN6 Lucy Spencer reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CERKL Lucy Spencer reviewed gene: CERKL: Rating: AMBER; Mode of pathogenicity: None; Publications: 37331655; Phenotypes: Retinitis pigmentosa 26 (MIM#608380); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.76 CLCNKB Lilian Downie Publications for gene: CLCNKB were set to
Prepair 1000+ v1.75 CLCN4 Lilian Downie Marked gene: CLCN4 as ready
Prepair 1000+ v1.75 CLCN4 Lilian Downie Gene: clcn4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.75 CLCN4 Lilian Downie Publications for gene: CLCN4 were set to 27550844
Prepair 1000+ v1.74 CIITA Lilian Downie Marked gene: CIITA as ready
Prepair 1000+ v1.74 CIITA Lilian Downie Gene: ciita has been classified as Green List (High Evidence).
Prepair 1000+ v1.74 CIITA Lilian Downie Publications for gene: CIITA were set to
Prepair 1000+ v1.73 CEP290 Lilian Downie Marked gene: CEP290 as ready
Prepair 1000+ v1.73 CEP290 Lilian Downie Gene: cep290 has been classified as Green List (High Evidence).
Prepair 1000+ v1.73 CEP290 Lilian Downie Publications for gene: CEP290 were set to
Prepair 1000+ v1.72 CDT1 Lilian Downie Marked gene: CDT1 as ready
Prepair 1000+ v1.72 CDT1 Lilian Downie Gene: cdt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.72 CDT1 Lilian Downie Publications for gene: CDT1 were set to
Prepair 1000+ v1.71 CDK10 Lilian Downie Marked gene: CDK10 as ready
Prepair 1000+ v1.71 CDK10 Lilian Downie Gene: cdk10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.71 CDK10 Lilian Downie Publications for gene: CDK10 were set to
Prepair 1000+ v1.70 CD55 Lilian Downie Marked gene: CD55 as ready
Prepair 1000+ v1.70 CD55 Lilian Downie Gene: cd55 has been classified as Green List (High Evidence).
Prepair 1000+ v1.70 CD55 Lilian Downie Publications for gene: CD55 were set to
Prepair 1000+ v1.69 CARD11 Lilian Downie Marked gene: CARD11 as ready
Prepair 1000+ v1.69 CARD11 Lilian Downie Added comment: Comment when marking as ready: Dominant negative suggested as possible mechanism for AD disease PMID:28826773
Prepair 1000+ v1.69 CARD11 Lilian Downie Gene: card11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.69 CARD11 Lilian Downie Publications for gene: CARD11 were set to
Prepair 1000+ v1.68 C19orf12 Lilian Downie Marked gene: C19orf12 as ready
Prepair 1000+ v1.68 C19orf12 Lilian Downie Gene: c19orf12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.68 C19orf12 Lilian Downie Publications for gene: C19orf12 were set to
Prepair 1000+ v1.67 ATM Lilian Downie Marked gene: ATM as ready
Prepair 1000+ v1.67 ATM Lilian Downie Added comment: Comment when marking as ready: NB for reporting carrier mother may need additional breast cancer surveillance
Prepair 1000+ v1.67 ATM Lilian Downie Gene: atm has been classified as Green List (High Evidence).
Prepair 1000+ v1.67 ATM Lilian Downie Publications for gene: ATM were set to 30137827
Prepair 1000+ v1.66 ATM Lilian Downie Publications for gene: ATM were set to
Prepair 1000+ v1.65 WNT1 Lauren Rogers reviewed gene: WNT1: Rating: ; Mode of pathogenicity: None; Publications: 23499310; Phenotypes: Osteogenesis imperfecta, type XV (MIM#615220); Mode of inheritance: None
Prepair 1000+ v1.65 WDR45B Lauren Rogers reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 VLDLR Lauren Rogers reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 USP9X Lauren Rogers reviewed gene: USP9X: Rating: ; Mode of pathogenicity: None; Publications: 31443933, 26833328; Phenotypes: Intellectual developmental disorder, X-linked 99, MIM#300919; Mode of inheritance: None
Prepair 1000+ v1.65 TUFM Lauren Rogers changed review comment from: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.

Congenital onset; to: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.

Congenital onset
Prepair 1000+ v1.65 TUFM Lauren Rogers changed review comment from: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.

Co ngenital onset; to: Features are lactic acidosis, progressive encephalopathy, dysplastic leukoencephalopathy due to abberant mitochondrial DNA translation.

Congenital onset
Prepair 1000+ v1.65 TUFM Lauren Rogers reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 TUBGCP4 Lauren Rogers reviewed gene: TUBGCP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817018; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 TPK1 Lauren Rogers reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458; Phenotypes: 33086386, 32679198, 22152682, 33231275; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SURF1 Lauren Rogers commented on gene: SURF1: Established gene-disease association.

Childhood onset, variable age, multi-system disorder characterised by rapidly progressive neurodegeneration and encephalopathy
Prepair 1000+ v1.65 SURF1 Lauren Rogers reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23829769; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SUCLG1 Lauren Rogers reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20693550; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SLC46A1 Lauren Rogers reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 SGCG Lauren Rogers reviewed gene: SGCG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 RNASEH2C Lauren Rogers reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 32877590; Phenotypes: Aicardi-Goutieres syndrome 3, MIM# 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 RMRP Lauren Rogers edited their review of gene: RMRP: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 RMRP Lauren Rogers reviewed gene: RMRP: Rating: ; Mode of pathogenicity: None; Publications: 16244706, 21396580, 22420014, 11940090, 16252239; Phenotypes: Cartilage-hair hypoplasia MIM#250250, Anauxetic dysplasia 1, MIM#607095, Metaphyseal dysplasia without hypotrichosis MIM#250460; Mode of inheritance: None
Prepair 1000+ v1.65 RIN2 Lauren Rogers reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631308, 20424861, 23963297, 24449201; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 RAB3GAP1 Lauren Rogers reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520, 30730599; Phenotypes: Warburg micro syndrome 1, MIM# 600118, Martsolf syndrome 2, MIM# 619420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 PMM2 Lauren Rogers edited their review of gene: PMM2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 PMM2 Lauren Rogers reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: None
Prepair 1000+ v1.65 PLPBP Lauren Rogers reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30668673, 31741821; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, MIM#617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 PIGA Lauren Rogers reviewed gene: PIGA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868, Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.65 PGM3 Lauren Rogers reviewed gene: PGM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31231132, 33098103; Phenotypes: Immunodeficiency 23, MIM# 615816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 PGM1 Lauren Rogers reviewed gene: PGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24499211, 33342467; Phenotypes: Congenital disorder of glycosylation, type It (MIM#614921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 ORC1 Lauren Rogers reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358633, 21358632, 21358631, 23023959; Phenotypes: Meier-Gorlin syndrome 1, MIM# 224690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CLDN1 Andrew Coventry reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889141 12164927 35304779 36779798; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 OBSL1 Lauren Rogers reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 OBSL1 Lauren Rogers Deleted their review
Prepair 1000+ v1.65 OBSL1 Lauren Rogers reviewed gene: OBSL1: Rating: ; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2, MIM #612921; Mode of inheritance: None
Prepair 1000+ v1.65 NTNG2 Lauren Rogers reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703, 31692205; Phenotypes: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 NKX3-2 Lauren Rogers reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CLCN4 Andrew Coventry reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27550844 33951195 25644381 34479510 37409888; Phenotypes: Raynaud-Claes syndrome MIM#300114; 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+ v1.65 CIITA Andrew Coventry reviewed gene: CIITA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8402893 9099848 11862382 28676232 24789686 20197681 11466404 15821736 12910265; Phenotypes: MHC class II deficiency 1 MIM#209920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CDK10 Andrew Coventry reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28886341 29130579 34974531; Phenotypes: Al Kaissi syndrome MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 NGLY1 Lauren Rogers reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24651605, 27388694; Phenotypes: Congenital disorder of deglycosylation, MIM# 615273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MOGS Lauren Rogers reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31925597, 30587846, 33058492, 38498292, 33261925; Phenotypes: Congenital disorder of glycosylation, type IIb, MIM# 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 C19orf12 Andrew Coventry reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780 31087512 23269600 33688131 22508347 31804703 30088953 20039086 24586779 35182730; Phenotypes: Neurodegeneration with brain iron accumulation 4 MIM#614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MOCS2 Lauren Rogers reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10053004, 31848698, 16021469, 30900395; Phenotypes: Molybdenum cofactor deficiency B (MIM#252160); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MMADHC Lauren Rogers reviewed gene: MMADHC: Rating: ; Mode of pathogenicity: None; Publications: 33552904; Phenotypes: Homocystinuria, cblD type, variant 1 MIM#277410, Methylmalonic aciduria and homocystinuria, cblD type MIM#277410, Methylmalonic aciduria, cblD type, variant 2 MIM#277410, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MEGF8 Lauren Rogers reviewed gene: MEGF8: Rating: ; Mode of pathogenicity: None; Publications: 23063620; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 MAN2B1 Lauren Rogers reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II, MIM# 248500, MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 BCAP31 Andrew Coventry reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989 33603160 32681719; Phenotypes: Deafness, dystonia, and cerebral hypomyelination MIM#300475, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0010334; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.65 ISPD Lauren Rogers reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28688748, 30060766, 22522420; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 ABCC8 Andrew Coventry reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17919176 1950816 21716120 38791571 36034573; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857, Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.65 CLCNKB Lucy Spencer changed review comment from: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226)

There is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.; to: Is the phenotype(s) severe and onset <18yo? YES. CLCNKB mutations cause Bartter syndrome type 3 also called classic Bartter syndrome with renal salt wasting, hypokalemia, metabolic alkalosis, polyuria, polydipsia, and failure to thrive. It typically manifests in early childhood but late childhood or adulthood onset cases have been reported. Classic Bartter syndrome has a heterogeneous presentation from severe to very mild (PMIDs: 25810436, 24965226)

There is also a digenic inheritance known for this gene with variants in CLCNKA causing Bartter syndrome type 4b.
Prepair 1000+ v1.65 CLCNKB Lucy Spencer reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25810436, 24965226; Phenotypes: Bartter syndrome, type 3 MIM#607364, Bartter syndrome, type 4b, digenic MIM#613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CEP290 Lucy Spencer reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17345604, 16909394, 24807808, 16682970, 16682973, 27434533, 20690115, 32208788; Phenotypes: CEP290-related ciliopathy MONDO:0100451, Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CDT1 Lucy Spencer reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11992493, 21358631; Phenotypes: Meier-Gorlin syndrome 4 MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CD55 Lucy Spencer reviewed gene: CD55: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28657829; Phenotypes: Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 CARD11 Lucy Spencer reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36729250, 23561803, 23374270; Phenotypes: Immunodeficiency 11A MIM#615206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 B3GAT3 Lucy Spencer reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31988067; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 ATM Lauren Rogers reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 30137827; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.65 ACY1 Zornitza Stark Tag for review tag was added to gene: ACY1.
Prepair 1000+ v1.65 CD81 Zornitza Stark Marked gene: CD81 as ready
Prepair 1000+ v1.65 CD81 Zornitza Stark Gene: cd81 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.65 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408
Prepair 1000+ v1.64 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Prepair 1000+ v1.64 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.64 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from Cowchock syndrome, 310490 (3) to Combined oxidative phosphorylation deficiency 6, MIM#300816
Prepair 1000+ v1.63 AK2 Zornitza Stark Marked gene: AK2 as ready
Prepair 1000+ v1.63 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.63 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, 267500 (3) to Reticular dysgenesis MIM# 267500
Prepair 1000+ v1.62 AK2 Zornitza Stark Publications for gene: AK2 were set to
Prepair 1000+ v1.61 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Prepair 1000+ v1.61 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.61 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from Sjogren-Larsson syndrome, 270200 (3) to Sjogren-Larsson syndrome (MIM#270200)
Prepair 1000+ v1.60 ALDH3A2 Zornitza Stark reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome (MIM#270200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.60 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Prepair 1000+ v1.60 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.60 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from Epilepsy, pyridoxine-dependent, 266100 (3) to Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100
Prepair 1000+ v1.59 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to
Prepair 1000+ v1.58 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Prepair 1000+ v1.58 ALG12 Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.58 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from Congenital disorder of glycosylation, type Ig, 607143 (3) to Congenital disorder of glycosylation, type Ig MIM# 607143
Prepair 1000+ v1.57 ALG12 Zornitza Stark Publications for gene: ALG12 were set to
Prepair 1000+ v1.56 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Prepair 1000+ v1.56 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.56 ALG3 Zornitza Stark Publications for gene: ALG3 were set to
Prepair 1000+ v1.55 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Prepair 1000+ v1.55 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.55 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from Alstrom syndrome, 203800 (3) to Alstrom syndrome, MIM# 203800
Prepair 1000+ v1.54 ALOX12B Zornitza Stark Marked gene: ALOX12B as ready
Prepair 1000+ v1.54 ALOX12B Zornitza Stark Gene: alox12b has been classified as Green List (High Evidence).
Prepair 1000+ v1.54 ALOX12B Zornitza Stark Phenotypes for gene: ALOX12B were changed from Ichthyosis, congenital, autosomal recessive 2, 242100 (3) to Ichthyosis, congenital, autosomal recessive 2, MIM# 242100
Prepair 1000+ v1.53 ALOX12B Zornitza Stark Publications for gene: ALOX12B were set to
Prepair 1000+ v1.52 ALOX12B Zornitza Stark reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.52 ALOXE3 Zornitza Stark Marked gene: ALOXE3 as ready
Prepair 1000+ v1.52 ALOXE3 Zornitza Stark Gene: aloxe3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.52 ALOXE3 Zornitza Stark Phenotypes for gene: ALOXE3 were changed from Ichthyosis, congenital, autosomal recessive 3, 606545 (3) to Ichthyosis, congenital, autosomal recessive 3 (MIM#606545)
Prepair 1000+ v1.51 ALOXE3 Zornitza Stark reviewed gene: ALOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.51 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Prepair 1000+ v1.51 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.51 ANTXR1 Zornitza Stark Phenotypes for gene: ANTXR1 were changed from GAPO syndrome, 230740 (3) to GAPO syndrome (MIM#230740)
Prepair 1000+ v1.50 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Prepair 1000+ v1.50 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.50 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from Hyaline fibromatosis syndrome, 228600 (3) to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Prepair 1000+ v1.49 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to
Prepair 1000+ v1.48 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Prepair 1000+ v1.48 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.48 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Prepair 1000+ v1.47 AQP2 Zornitza Stark Marked gene: AQP2 as ready
Prepair 1000+ v1.47 AQP2 Zornitza Stark Gene: aqp2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.47 AQP2 Zornitza Stark Phenotypes for gene: AQP2 were changed from Diabetes insipidus, nephrogenic, 125800 (3) to Diabetes insipidus, nephrogenic, type 2 MIM# 125800
Prepair 1000+ v1.46 AQP2 Zornitza Stark Publications for gene: AQP2 were set to
Prepair 1000+ v1.45 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Prepair 1000+ v1.45 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.45 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from Argininemia, 207800 (3) to Argininemia MIM# 207800
Prepair 1000+ v1.44 ARG1 Zornitza Stark Publications for gene: ARG1 were set to
Prepair 1000+ v1.43 CD40 Zornitza Stark Marked gene: CD40 as ready
Prepair 1000+ v1.43 CD40 Zornitza Stark Gene: cd40 has been classified as Green List (High Evidence).
Prepair 1000+ v1.43 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Prepair 1000+ v1.43 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.43 DBT Zornitza Stark Marked gene: DBT as ready
Prepair 1000+ v1.43 DBT Zornitza Stark Gene: dbt has been classified as Green List (High Evidence).
Prepair 1000+ v1.43 DBT Zornitza Stark reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.43 ARL6 Lauren Rogers edited their review of gene: ARL6: Changed phenotypes: Bardet-Biedl syndrome 3, MIM# 600151, Retinitis pigmentosa 55, MIM#613575
Prepair 1000+ v1.43 CRB1 Lauren Rogers edited their review of gene: CRB1: Changed phenotypes: Leber congenital amaurosis 8 MIM#613835, Retinitis pigmentosa-12, MIM#600105
Prepair 1000+ v1.43 COQ4 Lauren Rogers edited their review of gene: COQ4: Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, MIM#620666
Prepair 1000+ v1.43 COQ4 Lauren Rogers changed review comment from: At least 9 unrelated families reported.

Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: At least 9 unrelated families reported.

Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.
Prepair 1000+ v1.43 ALOXE3 Lucy Spencer edited their review of gene: ALOXE3: Added comment: Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel; Changed rating: GREEN
Prepair 1000+ v1.43 ALOXE3 Lucy Spencer changed review comment from: HGNC approved symbol/name: ALOXE3

Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here.

Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel

Treatments available: No specific treatment available (from babyscreen); to: HGNC approved symbol/name: ALOXE3

Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here.

Treatments available: No specific treatment available (from babyscreen)
Prepair 1000+ v1.43 ALOXE3 Lucy Spencer changed review comment from: HGNC approved symbol/name: ALOXE3

Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here.

Treatments available: No specific treatment available (from babyscreen); to: HGNC approved symbol/name: ALOXE3

Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here.

Discussed 25/07/24- this can be a very severe form of ichthyosis, should be green and remain on this panel

Treatments available: No specific treatment available (from babyscreen)
Prepair 1000+ v1.43 ALOXE3 Lucy Spencer changed review comment from: HGNC approved symbol/name: ALOXE3

Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here.

Treatments available: No specific treatment available (from babyscreen)

Known technical challenges? Y; to: HGNC approved symbol/name: ALOXE3

Is the phenotype(s) severe and onset <18yo ? Yes early onset; babyscreen review notes its congenital onset. However this gene causes ichthyosis and OMIM says "Affected individuals have a relatively mild ichthyosis phenotype". Im not sure its severe enough to include here.

Treatments available: No specific treatment available (from babyscreen)
Prepair 1000+ v1.43 COL2A1 Lauren Rogers reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31755234, 32896647; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.43 COQ4 Lauren Rogers changed review comment from: At least 9 unrelated families reported.

Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.; to: At least 9 unrelated families reported.

Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported.

Treatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.
Prepair 1000+ v1.43 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Prepair 1000+ v1.43 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.43 AP4S1 Zornitza Stark Marked gene: AP4S1 as ready
Prepair 1000+ v1.43 AP4S1 Zornitza Stark Gene: ap4s1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.43 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Prepair 1000+ v1.43 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.43 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from Epileptic encephalopathy, early infantile, 8, 300607 (3) to Developmental and epileptic encephalopathy 8, MIM# 300607
Prepair 1000+ v1.42 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Prepair 1000+ v1.41 ARHGEF9 Zornitza Stark Tag SV/CNV tag was added to gene: ARHGEF9.
Prepair 1000+ v1.41 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Prepair 1000+ v1.41 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.41 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, 600151 (3) to Bardet-Biedl syndrome 3, MIM# 600151
Prepair 1000+ v1.40 AIFM1 Lilian Downie Publications for gene: AIFM1 were set to
Prepair 1000+ v1.40 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Prepair 1000+ v1.39 ARL6 Zornitza Stark changed review comment from: Usually associated with multi-system ciliopathy, ID is a feature.; to: Usually associated with multi-system ciliopathy, ID is usually, though not always, a feature. Note gene is also associated with isolated RP.
Prepair 1000+ v1.39 ARL6 Zornitza Stark reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.39 ARSB Zornitza Stark Marked gene: ARSB as ready
Prepair 1000+ v1.39 ARSB Zornitza Stark Gene: arsb has been classified as Green List (High Evidence).
Prepair 1000+ v1.39 ARSB Zornitza Stark Publications for gene: ARSB were set to
Prepair 1000+ v1.38 AGXT Lilian Downie Marked gene: AGXT as ready
Prepair 1000+ v1.38 AGXT Lilian Downie Gene: agxt has been classified as Green List (High Evidence).
Prepair 1000+ v1.38 AGXT Lilian Downie Publications for gene: AGXT were set to
Prepair 1000+ v1.37 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Prepair 1000+ v1.37 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.37 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from Farber lipogranulomatosis, 228000 (3) to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950; Farber lipogranulomatosis, MIM#228000
Prepair 1000+ v1.36 AGA Lilian Downie Marked gene: AGA as ready
Prepair 1000+ v1.36 AGA Lilian Downie Gene: aga has been classified as Green List (High Evidence).
Prepair 1000+ v1.36 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950, Farber lipogranulomatosis, MIM#228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.36 AGA Lilian Downie Publications for gene: AGA were set to
Prepair 1000+ v1.35 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Prepair 1000+ v1.35 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.35 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis with deafness, 267300 (3) to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Prepair 1000+ v1.34 AGL Lilian Downie Marked gene: AGL as ready
Prepair 1000+ v1.34 AGL Lilian Downie Gene: agl has been classified as Green List (High Evidence).
Prepair 1000+ v1.34 AGL Lilian Downie Publications for gene: AGL were set to
Prepair 1000+ v1.33 ATRX Zornitza Stark Marked gene: ATRX as ready
Prepair 1000+ v1.33 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Prepair 1000+ v1.33 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from ATR-X-related syndrome MONDO:0016980; Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980
Prepair 1000+ v1.32 ATRX Zornitza Stark Publications for gene: ATRX were set to
Prepair 1000+ v1.31 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Prepair 1000+ v1.31 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.31 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1, 209900 (3) to Bardet-Biedl syndrome 1, MIM# 209900
Prepair 1000+ v1.30 ADSL Lilian Downie Marked gene: ADSL as ready
Prepair 1000+ v1.30 ADSL Lilian Downie Gene: adsl has been classified as Green List (High Evidence).
Prepair 1000+ v1.30 ADSL Lilian Downie Publications for gene: ADSL were set to
Prepair 1000+ v1.30 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Prepair 1000+ v1.29 BBS1 Zornitza Stark reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.29 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Prepair 1000+ v1.29 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.29 ACTA1 Lilian Downie Marked gene: ACTA1 as ready
Prepair 1000+ v1.29 ACTA1 Lilian Downie Gene: acta1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.29 ACTA1 Lilian Downie Publications for gene: ACTA1 were set to 19562689
Prepair 1000+ v1.28 BBS12 Zornitza Stark reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.28 ACTA1 Lilian Downie Publications for gene: ACTA1 were set to
Prepair 1000+ v1.27 C1QA Zornitza Stark Marked gene: C1QA as ready
Prepair 1000+ v1.27 C1QA Zornitza Stark Gene: c1qa has been classified as Green List (High Evidence).
Prepair 1000+ v1.27 C1QA Zornitza Stark Publications for gene: C1QA were set to
Prepair 1000+ v1.26 C1QA Zornitza Stark reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.26 ACAD9 Lilian Downie Marked gene: ACAD9 as ready
Prepair 1000+ v1.26 ACAD9 Lilian Downie Gene: acad9 has been classified as Green List (High Evidence).
Prepair 1000+ v1.26 ACAD9 Lilian Downie Publications for gene: ACAD9 were set to
Prepair 1000+ v1.25 CD3D Zornitza Stark Marked gene: CD3D as ready
Prepair 1000+ v1.25 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Prepair 1000+ v1.25 CD3D Zornitza Stark Phenotypes for gene: CD3D were changed from Immunodeficiency 19, 615617 (3) to Immunodeficiency 19, severe combined MIM# 615617
Prepair 1000+ v1.24 ACO2 Lilian Downie Marked gene: ACO2 as ready
Prepair 1000+ v1.24 ACO2 Lilian Downie Gene: aco2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.24 ACO2 Lilian Downie Publications for gene: ACO2 were set to
Prepair 1000+ v1.23 CLN5 Zornitza Stark Marked gene: CLN5 as ready
Prepair 1000+ v1.23 CLN5 Zornitza Stark Gene: cln5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.23 CLN5 Zornitza Stark Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, 256731 (3) to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745
Prepair 1000+ v1.22 CRB1 Zornitza Stark Marked gene: CRB1 as ready
Prepair 1000+ v1.22 CRB1 Zornitza Stark Gene: crb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.22 CRB1 Zornitza Stark Publications for gene: CRB1 were set to
Prepair 1000+ v1.21 CRB1 Zornitza Stark reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 8, MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.21 ACADVL Lilian Downie Marked gene: ACADVL as ready
Prepair 1000+ v1.21 ACADVL Lilian Downie Gene: acadvl has been classified as Green List (High Evidence).
Prepair 1000+ v1.21 GFM1 Lauren Rogers changed review comment from: Well established gene-disease association.
Onset at birth with death within first months of life
No treatment available

Non-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V
; to: Well established gene-disease association.
Onset at birth with death within first months of life
No treatment available
Prepair 1000+ v1.21 ACADVL Lilian Downie Publications for gene: ACADVL were set to
Prepair 1000+ v1.20 ECHS1 Lauren Rogers changed review comment from: Well established gene-disease association.

Usually presents in infancy.

Treatable-ID – level 4 evidence: valine restriction improves psychomotor/cognitive development/IQ; improves neurological manifestations (incl. neuro-imaging); improves systemic manifestations (PMID: 32642440); to: Well established gene-disease association.

Usually presents in infancy.
Prepair 1000+ v1.20 CTSD Zornitza Stark Marked gene: CTSD as ready
Prepair 1000+ v1.20 CTSD Zornitza Stark Gene: ctsd has been classified as Green List (High Evidence).
Prepair 1000+ v1.20 CTSD Zornitza Stark reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.20 ABHD5 Lilian Downie Marked gene: ABHD5 as ready
Prepair 1000+ v1.20 ABHD5 Lilian Downie Gene: abhd5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.20 ABHD5 Lilian Downie Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome, 275630 (3) to Chanarin-Dorfman syndrome, MIM#275630
Prepair 1000+ v1.19 DIS3L2 Zornitza Stark Marked gene: DIS3L2 as ready
Prepair 1000+ v1.19 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.19 DIS3L2 Zornitza Stark Phenotypes for gene: DIS3L2 were changed from Perlman syndrome, 267000 (3) to Perlman syndrome MIM# 267000
Prepair 1000+ v1.18 ABHD5 Lilian Downie Publications for gene: ABHD5 were set to
Prepair 1000+ v1.17 DIS3L2 Zornitza Stark Publications for gene: DIS3L2 were set to
Prepair 1000+ v1.16 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Prepair 1000+ v1.16 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.16 GFM1 Lauren Rogers changed review comment from: Well established gene-disease association.
Onset at birth with death within first months of life
No treatment available

Non-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V

Detection on NBS would establish diagnosis early and allow palliative treatment; to: Well established gene-disease association.
Onset at birth with death within first months of life
No treatment available

Non-genetic confirmatory test: - Fibroblasts show decreased activity of mitochondrial respiratory complex I, complex III, complex IV, and complex V
Prepair 1000+ v1.16 ABCB7 Lilian Downie Marked gene: ABCB7 as ready
Prepair 1000+ v1.16 ABCB7 Lilian Downie Gene: abcb7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.16 ABCB7 Lilian Downie Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia, 301310 (3) to Anemia, sideroblastic, with ataxia, MIM# 301310
Prepair 1000+ v1.15 ABCB7 Lilian Downie Publications for gene: ABCB7 were set to
Prepair 1000+ v1.14 ABCA12 Lilian Downie Marked gene: ABCA12 as ready
Prepair 1000+ v1.14 ABCA12 Lilian Downie Gene: abca12 has been classified as Green List (High Evidence).
Prepair 1000+ v1.14 HPGD Zornitza Stark Marked gene: HPGD as ready
Prepair 1000+ v1.14 HPGD Zornitza Stark Gene: hpgd has been classified as Green List (High Evidence).
Prepair 1000+ v1.14 HPGD Zornitza Stark Publications for gene: HPGD were set to
Prepair 1000+ v1.13 HPGD Zornitza Stark reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.13 AARS2 Lilian Downie Marked gene: AARS2 as ready
Prepair 1000+ v1.13 AARS2 Lilian Downie Gene: aars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.13 HPSE2 Zornitza Stark Marked gene: HPSE2 as ready
Prepair 1000+ v1.13 HPSE2 Zornitza Stark Gene: hpse2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.13 HPSE2 Zornitza Stark Phenotypes for gene: HPSE2 were changed from Urofacial syndrome 1, 236730 (3) to Urofacial syndrome 1 MIM#236730
Prepair 1000+ v1.12 HPSE2 Zornitza Stark Publications for gene: HPSE2 were set to
Prepair 1000+ v1.11 HPSE2 Zornitza Stark reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.11 AAAS Lilian Downie Marked gene: AAAS as ready
Prepair 1000+ v1.11 AAAS Lilian Downie Gene: aaas has been classified as Green List (High Evidence).
Prepair 1000+ v1.11 AAAS Lilian Downie Publications for gene: AAAS were set to
Prepair 1000+ v1.10 HSD17B4 Zornitza Stark Marked gene: HSD17B4 as ready
Prepair 1000+ v1.10 HSD17B4 Zornitza Stark Gene: hsd17b4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.10 HSD17B4 Zornitza Stark reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.10 IL1RN Zornitza Stark Marked gene: IL1RN as ready
Prepair 1000+ v1.10 IL1RN Zornitza Stark Gene: il1rn has been classified as Green List (High Evidence).
Prepair 1000+ v1.10 IL1RN Zornitza Stark Phenotypes for gene: IL1RN were changed from Interleukin 1 receptor antagonist deficiency, 612852 (3) to Interleukin 1 receptor antagonist deficiency, MIM# 612852; Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285
Prepair 1000+ v1.9 IL2RG Zornitza Stark Marked gene: IL2RG as ready
Prepair 1000+ v1.9 IL2RG Zornitza Stark Gene: il2rg has been classified as Green List (High Evidence).
Prepair 1000+ v1.9 IL7R Zornitza Stark Marked gene: IL7R as ready
Prepair 1000+ v1.9 IL7R Zornitza Stark Gene: il7r has been classified as Green List (High Evidence).
Prepair 1000+ v1.9 VPS11 Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 12 (MIM#616683); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ARSB Kate Scarff reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11668612, 31142378; Phenotypes: Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ACTA1 Michelle Torres reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19562689; Phenotypes: Congenital myopathy 2B, severe infantile, autosomal recessive (MIM#620265); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ARHGEF9 Kate Scarff reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31942680, 30048823, 29130122, 28620718; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; 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+ v1.9 ACO2 Michelle Torres changed review comment from: Is the phenotype(s) severe and onset <18yo ? Y

NB: Optic atrophy 9 may also be AD.; to: Is the phenotype(s) severe and onset <18yo ? Y

*No clear genotype-phenotype correlation (Fig 1a, PMID: 34056600)

NB: Optic atrophy 9 may also be AD.
Prepair 1000+ v1.9 ARG1 Kate Scarff reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26467175, 2365823, 1598908, 29726057; Phenotypes: Argininemia MIM# 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ACO2 Michelle Torres changed review comment from: Is the phenotype(s) severe and onset <18yo ? Y

NB: Optic atrophy 9 may also be AD.; to: Is the phenotype(s) severe and onset <18yo ? Y

NB: Optic atrophy 9 may also be AD.
Prepair 1000+ v1.9 ACO2 Michelle Torres edited their review of gene: ACO2: Changed rating: GREEN
Prepair 1000+ v1.9 ACO2 Michelle Torres reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: 34056600; Phenotypes: Infantile cerebellar-retinal degeneration (MIM#614559), Optic atrophy 9 (MIM#616289); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALG12 Kate Scarff changed review comment from: HGNC approved symbol/name: ALG12
Is the phenotype(s) severe and onset <18yo ? Yes
Features include impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood; to: HGNC approved symbol/name: ALG12
Is the phenotype(s) severe and onset <18yo ? Yes
Features include impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood.
No specific treatment at present.
Prepair 1000+ v1.9 AQP2 Kate Scarff reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, type 2 MIM# 125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4B1 Kate Scarff reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21620353, 22290197, 24700674, 24781758; Phenotypes: Spastic paraplegia 47, autosomal recessive MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALG12 Kate Scarff reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Prepair 1000+ v1.9 ADSL Kate Scarff reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25112391, 1302001, 22180458, 18524658; Phenotypes: Adenylosuccinase deficiency MIM#103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AGA Lana Giameos reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1703489, 1904874, 8064811, 8946839; Phenotypes: Aspartylglucosaminuria, MIM# 208400, MONDO:0008830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AGL Marta Cifuentes Ochoa commented on gene: AGL: Current Treatment high-fat, high-protein and low-carbohydrate diet with cornstarch supplementation
Prepair 1000+ v1.9 ATRX Andrew Coventry reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16813605, 16955409, 15350606, 23681356; Phenotypes: Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.9 AARS2 Clare Hunt reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 IL7R Lauren Rogers reviewed gene: IL7R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency 104 MIM# 608971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ASAH1 Lucy Spencer reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950, Farber lipogranulomatosis, MIM#; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 IL2RG Lauren Rogers reviewed gene: IL2RG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked MIM# 300400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.9 IL1RN Lauren Rogers reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM# 612852, Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 CRB1 Lauren Rogers reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8 MIM#613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4S1 Lucy Spencer reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, MIM#614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HSD17B4 Lauren Rogers reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HPSE2 Lauren Rogers reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 AP4M1 Lucy Spencer reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive (MIM#612936); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ANTXR1 Lucy Spencer reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GAPO syndrome (MIM#230740); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 HPGD Lauren Rogers reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALOXE3 Lucy Spencer reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 3 (MIM#606545); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ALDH3A2 Lucy Spencer reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sjogren-Larsson syndrome (MIM#270200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ACADVL Lucy Spencer reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency (MIM#201475); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 GFM1 Lauren Rogers reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 1, MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 CD81 Lauren Rogers reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408, 35849269; Phenotypes: Immunodeficiency, common variable, 6, OMIM:613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 C1QA Lauren Rogers reviewed gene: C1QA: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 9225968, 9590289; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ABHD5 Lauren Thomas reviewed gene: ABHD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30795549; Phenotypes: Chanarin-Dorfman syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.9 ETFDH Lilian Downie Marked gene: ETFDH as ready
Prepair 1000+ v1.9 ETFDH Lilian Downie Gene: etfdh has been classified as Green List (High Evidence).
Prepair 1000+ v1.9 ETFDH Lilian Downie Publications for gene: ETFDH were set to 31904027
Prepair 1000+ v1.8 ETFDH Lilian Downie Publications for gene: ETFDH were set to
Prepair 1000+ v1.7 ETFDH Lauren Rogers reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIC, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ECHS1 Lauren Rogers reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32642440; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 DIS3L2 Lauren Rogers reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 DBT Lauren Rogers reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type II (MIM#248600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ATP7B Andrew Coventry reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35042319 8298639 9554743 10790207 7626145 16133174 28433102; Phenotypes: Wilson disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALG3 Andrew Coventry reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31067009, 10581255, 15840742; Phenotypes: Congenital disorder of glycosylation, type Id; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AFF2 Lauren Rogers reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35431806, 8334699, 21739600, 22773736; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 ALDH7A1 Andrew Coventry reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16491085, 17068770, 32969477, 33200442, 17721876, 19142996, 22784480, 29053735; Phenotypes: Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AK2 Andrew Coventry reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AGXT Andrew Coventry reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 2039493, 19479957, 33789010; Phenotypes: Hyperoxaluria, primary, type 1 MIM #259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CTSD Lauren Rogers reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 ABCB7 Andrew Coventry Deleted their review
Prepair 1000+ v1.7 ABCB7 Andrew Coventry changed review comment from: HGNC approved symbol/name: ABCB7
Reported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild.; to: HGNC approved symbol/name: ABCB7
Reported cases of ataxia are typically childhood onset and progressive, anaemia reported to be mostly mild.
Prepair 1000+ v1.7 COQ4 Lauren Rogers reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCB7 Andrew Coventry reviewed gene: ABCB7: Rating: ; Mode of pathogenicity: None; Publications: 10196363, 33157103, 31772327, 31511561, 26242992, 34354969, 22398176; Phenotypes: Anaemia, sideroblastic, with ataxia MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 AGL Marta Cifuentes Ochoa reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26885414, 20301788, 35834487, 27106217; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ACY1 Marta Cifuentes Ochoa reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16274666, 16465618, 17562838, 24117009, 37523070, 29653693, 26686503; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.7 AIFM1 Karina Sandoval reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20362274, 22019070, 26173962, 31523922, 31783324, 28299359, 25934856, 28842795, 28842795; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Deafness, X-linked 5, 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.7 CLN5 Lauren Rogers reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CD40 Lauren Rogers reviewed gene: CD40: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency with hyper-IgM, type 3, MIM# 606843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 CD3D Lauren Rogers reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19, severe combined MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 BBS12 Lauren Rogers reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 12, MIM# 615989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 BBS1 Lauren Rogers reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20177705, 15637713; Phenotypes: Bardet-Biedl syndrome 1, MIM# 209900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ATP6V1B1 Lauren Rogers reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ARL6 Lauren Rogers reviewed gene: ARL6: Rating: ; Mode of pathogenicity: None; Publications: 15258860, 32361989, 31888296, 25402481, 31736247, 19858128; Phenotypes: Bardet-Biedl syndrome 3, MIM# 600151; Mode of inheritance: None
Prepair 1000+ v1.7 ANTXR2 Lauren Rogers reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALOX12B Lauren Rogers reviewed gene: ALOX12B: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116617, 11773004; Phenotypes: Ichthyosis, congenital, autosomal recessive 2, MIM# 242100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ADPRHL2 Karina Sandoval reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30100084, 30401461, 35664652; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ALMS1 Lauren Rogers reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 AAAS Lauren Rogers reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 29255950; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ACAD9 Karina Sandoval reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:30025539, 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 ABCA12 Karina Sandoval reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31168818, 19664001, 31489029; Phenotypes: Ichthyosis, congenital, autosomal recessive 4A (MIM#601277), Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.7 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530 (3) to Intellectual developmental disorder, X-linked 1 MIM#309530
Prepair 1000+ v1.6 AAAS Zornitza Stark edited their review of gene: AAAS: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.6 AAAS Zornitza Stark edited their review of gene: AAAS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.6 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.6 LIG4 Santosh Varughese reviewed gene: LIG4: 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: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.6 ARMC4 Zornitza Stark Tag new gene name tag was added to gene: ARMC4.
Prepair 1000+ v1.6 ADPRHL2 Zornitza Stark Classified gene: ADPRHL2 as Amber List (moderate evidence)
Prepair 1000+ v1.6 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.5 ADPRHL2 Zornitza Stark changed review comment from: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.

New HGNC approved name is ADPRS.; to: Fourteen unrelated families reported with stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS), an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. The disorder is characterised by cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some individuals develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy.

New HGNC approved name is ADPRS.

To be upgraded to GREEN in next version of panel.
Prepair 1000+ v1.5 ADPRHL2 Zornitza Stark edited their review of gene: ADPRHL2: Changed rating: AMBER
Prepair 1000+ v1.5 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Prepair 1000+ v1.5 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Prepair 1000+ v1.5 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.5 ADPRHL2 Zornitza Stark Classified gene: ADPRHL2 as Green List (high evidence)
Prepair 1000+ v1.5 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.4 ADPRHL2 Zornitza Stark reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.4 PIEZO1 Crystle Lee gene: PIEZO1 was added
gene: PIEZO1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to PMID: 26333996
Phenotypes for gene: PIEZO1 were set to Lymphatic malformation 6, MIM#616843
Review for gene: PIEZO1 was set to GREEN
Added comment: Biallelic mutations in PIEZO1 reported in 10 patients from 6 families with generalized lymphatic dysplasia (GLD) This is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions.
Sources: Literature
Prepair 1000+ v1.4 PRICKLE1 Zornitza Stark Tag for review tag was added to gene: PRICKLE1.
Prepair 1000+ v1.4 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.4 GPT2 Zornitza Stark Phenotypes for gene: GPT2 were changed from Mental retardation, autosomal recessive 49, 616281 (3) to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Prepair 1000+ v1.3 ZNF711 Seb Lunke Added phenotypes Mental retardation, X-linked 97, 300803 (3) for gene: ZNF711
Prepair 1000+ v1.3 ZFYVE26 Seb Lunke Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 (3) for gene: ZFYVE26
Prepair 1000+ v1.3 ZDHHC9 Seb Lunke Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 (3) for gene: ZDHHC9
Prepair 1000+ v1.3 ZBTB24 Seb Lunke Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) for gene: ZBTB24
Prepair 1000+ v1.3 YARS2 Seb Lunke Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) for gene: YARS2
Prepair 1000+ v1.3 XPC Seb Lunke Added phenotypes Xeroderma pigmentosum, group C, 278720 (3) for gene: XPC
Prepair 1000+ v1.3 XPA Seb Lunke Added phenotypes Xeroderma pigmentosum, group A, 278700 (3) for gene: XPA
Prepair 1000+ v1.3 XIAP Seb Lunke Added phenotypes Lymphoproliferative syndrome, X-linked, 2, 300635 (3) for gene: XIAP
Prepair 1000+ v1.3 WWOX Seb Lunke Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211 (3) for gene: WWOX
Prepair 1000+ v1.3 WRN Seb Lunke Added phenotypes Werner syndrome, 277700 (3) for gene: WRN
Prepair 1000+ v1.3 WISP3 Seb Lunke Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) for gene: WISP3
Prepair 1000+ v1.3 WHRN Seb Lunke Added phenotypes Usher syndrome, type 2D, 611383 (3) for gene: WHRN
Prepair 1000+ v1.3 WDR81 Seb Lunke Added phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) for gene: WDR81
Prepair 1000+ v1.3 WDR62 Seb Lunke Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) for gene: WDR62
Prepair 1000+ v1.3 WDR34 Seb Lunke Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) for gene: WDR34
Prepair 1000+ v1.3 WAS Seb Lunke Added phenotypes Wiskott-Aldrich syndrome, 301000 (3) for gene: WAS
Prepair 1000+ v1.3 VSX2 Seb Lunke Added phenotypes Microphthalmia with coloboma 3, 610092 (3) for gene: VSX2
Prepair 1000+ v1.3 VRK1 Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 1A, 607596 (3) for gene: VRK1
Prepair 1000+ v1.3 VPS53 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 (3) for gene: VPS53
Prepair 1000+ v1.3 VPS45 Seb Lunke Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) for gene: VPS45
Prepair 1000+ v1.3 VPS13B Seb Lunke Added phenotypes Cohen syndrome, 216550 (3) for gene: VPS13B
Prepair 1000+ v1.3 VPS11 Seb Lunke Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive for gene: VPS11
Prepair 1000+ v1.3 VLDLR Seb Lunke Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) for gene: VLDLR
Prepair 1000+ v1.3 USP9X Seb Lunke Added phenotypes Mental retardation, X-linked 99, 300919 (3) for gene: USP9X
Prepair 1000+ v1.3 USH2A Seb Lunke Added phenotypes Usher syndrome, type 2A, 276901 (3) for gene: USH2A
Prepair 1000+ v1.3 USH1G Seb Lunke Added phenotypes Usher syndrome, type 1G, 606943 (3) for gene: USH1G
Prepair 1000+ v1.3 USH1C Seb Lunke Added phenotypes Usher syndrome, type 1C, 276904 (3) for gene: USH1C
Prepair 1000+ v1.3 UPF3B Seb Lunke Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 (3) for gene: UPF3B
Prepair 1000+ v1.3 UNC13D Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) for gene: UNC13D
Prepair 1000+ v1.3 UGT1A1 Seb Lunke Added phenotypes Crigler-Najjar syndrome, type I, 218800 (3) for gene: UGT1A1
Prepair 1000+ v1.3 UBR1 Seb Lunke Added phenotypes Johanson-Blizzard syndrome, 243800 (3) for gene: UBR1
Prepair 1000+ v1.3 UBE2T Seb Lunke Added phenotypes Fanconi anemia, complementation group T, 616435 (3) for gene: UBE2T
Prepair 1000+ v1.3 UBA5 Seb Lunke Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive for gene: UBA5
Prepair 1000+ v1.3 TYRP1 Seb Lunke Added phenotypes Albinism, oculocutaneous, type III, 203290 (3) for gene: TYRP1
Prepair 1000+ v1.3 TYR Seb Lunke Added phenotypes Albinism, oculocutaneous, type IA, 203100 (3) for gene: TYR
Prepair 1000+ v1.3 TYMP Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) for gene: TYMP
Prepair 1000+ v1.3 TWNK Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) for gene: TWNK
Prepair 1000+ v1.3 TULP1 Seb Lunke Added phenotypes Retinitis pigmentosa 14, 600132 (3) for gene: TULP1
Prepair 1000+ v1.3 TTPA Seb Lunke Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 (3) for gene: TTPA
Prepair 1000+ v1.3 TTC8 Seb Lunke Added phenotypes Bardet-Biedl syndrome 8, 615985 (3) for gene: TTC8
Prepair 1000+ v1.3 TTC7A Seb Lunke Added phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) for gene: TTC7A
Prepair 1000+ v1.3 TTC37 Seb Lunke Added phenotypes Trichohepatoenteric syndrome 1, 222470 (3) for gene: TTC37
Prepair 1000+ v1.3 TSHB Seb Lunke Added phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 (3) for gene: TSHB
Prepair 1000+ v1.3 TSFM Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 (3) for gene: TSFM
Prepair 1000+ v1.3 TSEN54 Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 2A, 277470 (3) for gene: TSEN54
Prepair 1000+ v1.3 TSEN2 Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 (3) for gene: TSEN2
Prepair 1000+ v1.3 TRPM6 Seb Lunke Added phenotypes Hypomagnesemia 1, intestinal, 602014 (3) for gene: TRPM6
Prepair 1000+ v1.3 TRMU Seb Lunke Added phenotypes Liver failure, transient infantile, 613070 (3) for gene: TRMU
Prepair 1000+ v1.3 TRIM37 Seb Lunke Added phenotypes Mulibrey nanism, 253250 (3) for gene: TRIM37
Prepair 1000+ v1.3 TRIM32 Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2H, 254110 (3) for gene: TRIM32
Prepair 1000+ v1.3 TREX1 Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3) for gene: TREX1
Prepair 1000+ v1.3 TRDN Seb Lunke Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) for gene: TRDN
Prepair 1000+ v1.3 TPP1 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 (3) for gene: TPP1
Prepair 1000+ v1.3 TOE1 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive for gene: TOE1
Prepair 1000+ v1.3 TMTC3 Seb Lunke Added phenotypes Lissencephaly 8, 617255 (3), Autosomal recessive for gene: TMTC3
Prepair 1000+ v1.3 TMEM67 Seb Lunke Added phenotypes Joubert syndrome 6, 610688 (3) for gene: TMEM67
Prepair 1000+ v1.3 TMEM237 Seb Lunke Added phenotypes Joubert syndrome 14, 614424 (3) for gene: TMEM237
Prepair 1000+ v1.3 TMEM231 Seb Lunke Added phenotypes Joubert syndrome 20, 614970 (3) for gene: TMEM231
Prepair 1000+ v1.3 TMEM216 Seb Lunke Added phenotypes Joubert syndrome 2, 608091 (3) for gene: TMEM216
Prepair 1000+ v1.3 TMEM138 Seb Lunke Added phenotypes Joubert syndrome 16, 614465 (3) for gene: TMEM138
Prepair 1000+ v1.3 TK2 Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) for gene: TK2
Prepair 1000+ v1.3 THOC2 Seb Lunke Added phenotypes Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive for gene: THOC2
Prepair 1000+ v1.3 TH Seb Lunke Added phenotypes Segawa syndrome, recessive, MIM# 605407 for gene: TH
Prepair 1000+ v1.3 TGM1 Seb Lunke Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 (3) for gene: TGM1
Prepair 1000+ v1.3 TF Seb Lunke Added phenotypes Atransferrinemia, 209300 (3) for gene: TF
Prepair 1000+ v1.3 TELO2 Seb Lunke Added phenotypes You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive for gene: TELO2
Prepair 1000+ v1.3 TECPR2 Seb Lunke Added phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 for gene: TECPR2
Publications for gene TECPR2 were updated from 23176824; 26542466; 35130874 to 26542466; 23176824; 35130874
Prepair 1000+ v1.3 TCTN3 Seb Lunke Added phenotypes Joubert syndrome 18, 614815 (3) for gene: TCTN3
Prepair 1000+ v1.3 TCTN2 Seb Lunke Added phenotypes Joubert syndrome 24 for gene: TCTN2
Prepair 1000+ v1.3 TCN2 Seb Lunke Added phenotypes Transcobalamin II deficiency, 275350 (3) for gene: TCN2
Prepair 1000+ v1.3 TCIRG1 Seb Lunke Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 (3) for gene: TCIRG1
Prepair 1000+ v1.3 TBCE Seb Lunke Added phenotypes Kenny-Caffey syndrome-1, 244460 (3) for gene: TBCE
Prepair 1000+ v1.3 TBCD Seb Lunke Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive for gene: TBCD
Prepair 1000+ v1.3 TBC1D24 Seb Lunke Added phenotypes Epileptic encephalopathy, early infantile, 16, 615338 (3) for gene: TBC1D24
Prepair 1000+ v1.3 TBC1D23 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive for gene: TBC1D23
Prepair 1000+ v1.3 TAZ Seb Lunke Added phenotypes Barth syndrome, 302060 (3) for gene: TAZ
Prepair 1000+ v1.3 TAT Seb Lunke Added phenotypes Tyrosinemia, type II (MIM#276600) for gene: TAT
Prepair 1000+ v1.3 TANGO2 Seb Lunke Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration for gene: TANGO2
Prepair 1000+ v1.3 SYN1 Seb Lunke Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) for gene: SYN1
Prepair 1000+ v1.3 SURF1 Seb Lunke Added phenotypes Leigh syndrome, due to COX deficiency, 256000 (3) for gene: SURF1
Prepair 1000+ v1.3 SUOX Seb Lunke Added phenotypes Sulfite oxidase deficiency, 272300 (3) for gene: SUOX
Prepair 1000+ v1.3 SUMF1 Seb Lunke Added phenotypes Multiple sulfatase deficiency, 272200 (3) for gene: SUMF1
Prepair 1000+ v1.3 STXBP2 Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) for gene: STXBP2
Prepair 1000+ v1.3 STX11 Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3) for gene: STX11
Prepair 1000+ v1.3 STAR Seb Lunke Added phenotypes Lipoid adrenal hyperplasia, 201710 (3) for gene: STAR
Prepair 1000+ v1.3 ST3GAL5 Seb Lunke Added phenotypes Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive for gene: ST3GAL5
Prepair 1000+ v1.3 SPR Seb Lunke Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) for gene: SPR
Prepair 1000+ v1.3 SPINK5 Seb Lunke Added phenotypes Netherton syndrome, 256500 (3) for gene: SPINK5
Prepair 1000+ v1.3 SPG11 Seb Lunke Added phenotypes Spastic paraplegia 11, autosomal recessive, MIM# 604360 for gene: SPG11
Prepair 1000+ v1.3 SPATA5 Seb Lunke Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive for gene: SPATA5
Prepair 1000+ v1.3 SNAP29 Seb Lunke Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) for gene: SNAP29
Prepair 1000+ v1.3 SMPD1 Seb Lunke Added phenotypes Niemann-Pick disease, type A, 257200 (3) for gene: SMPD1
Prepair 1000+ v1.3 SMN1 Seb Lunke Added phenotypes Spinal muscular atrophy-1, 253300 (3) for gene: SMN1
Prepair 1000+ v1.3 SMARCAL1 Seb Lunke Added phenotypes Schimke immunoosseous dysplasia, 242900 (3) for gene: SMARCAL1
Prepair 1000+ v1.3 SLC7A7 Seb Lunke Added phenotypes Lysinuric protein intolerance, 222700 (3) for gene: SLC7A7
Prepair 1000+ v1.3 SLC6A8 Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 (3) for gene: SLC6A8
Prepair 1000+ v1.3 SLC6A5 Seb Lunke Added phenotypes Hyperekplexia 3, 614618 (3) for gene: SLC6A5
Prepair 1000+ v1.3 SLC52A3 Seb Lunke Added phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3) for gene: SLC52A3
Prepair 1000+ v1.3 SLC52A2 Seb Lunke Added phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 (3) for gene: SLC52A2
Prepair 1000+ v1.3 SLC46A1 Seb Lunke Added phenotypes Folate malabsorption, hereditary, 229050 (3) for gene: SLC46A1
Prepair 1000+ v1.3 SLC45A2 Seb Lunke Added phenotypes Albinism, oculocutaneous, type IV, 606574 (3) for gene: SLC45A2
Prepair 1000+ v1.3 SLC39A4 Seb Lunke Added phenotypes Acrodermatitis enteropathica, 201100 (3) for gene: SLC39A4
Prepair 1000+ v1.3 SLC38A8 Seb Lunke Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) for gene: SLC38A8
Prepair 1000+ v1.3 SLC37A4 Seb Lunke Added phenotypes Glycogen storage disease Ib, 232220 (3) for gene: SLC37A4
Prepair 1000+ v1.3 SLC35A3 Seb Lunke Added phenotypes Arthrogryposis, mental retardation, and seizures (MIM615553) for gene: SLC35A3
Publications for gene SLC35A3 were updated from 24031089; 28777481; 28328131 to 28777481; 28328131; 24031089
Prepair 1000+ v1.3 SLC26A3 Seb Lunke Added phenotypes Diarrhea 1, secretory chloride, congenital, 214700 (3) for gene: SLC26A3
Prepair 1000+ v1.3 SLC26A2 Seb Lunke Added phenotypes Achondrogenesis Ib, 600972 (3) for gene: SLC26A2
Prepair 1000+ v1.3 SLC25A15 Seb Lunke Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) for gene: SLC25A15
Prepair 1000+ v1.3 SLC25A13 Seb Lunke Added phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3) for gene: SLC25A13
Prepair 1000+ v1.3 SLC25A1 Seb Lunke Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) for gene: SLC25A1
Prepair 1000+ v1.3 SLC22A5 Seb Lunke Added phenotypes Carnitine deficiency, systemic primary, 212140 (3) for gene: SLC22A5
Prepair 1000+ v1.3 SLC1A4 Seb Lunke Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) for gene: SLC1A4
Prepair 1000+ v1.3 SLC19A3 Seb Lunke Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) for gene: SLC19A3
Prepair 1000+ v1.3 SLC19A2 Seb Lunke Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) for gene: SLC19A2
Prepair 1000+ v1.3 SLC17A5 Seb Lunke Added phenotypes Sialic acid storage disorder, infantile, 269920 (3) for gene: SLC17A5
Prepair 1000+ v1.3 SLC16A2 Seb Lunke Added phenotypes Allan-Herndon-Dudley syndrome for gene: SLC16A2
Prepair 1000+ v1.3 SLC12A6 Seb Lunke Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) for gene: SLC12A6
Prepair 1000+ v1.3 SLC12A1 Seb Lunke Added phenotypes Bartter syndrome, type 1, 601678 (3) for gene: SLC12A1
Prepair 1000+ v1.3 SKIV2L Seb Lunke Added phenotypes Trichohepatoenteric syndrome 2, 614602 (3) for gene: SKIV2L
Prepair 1000+ v1.3 SH3TC2 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596 (3) for gene: SH3TC2
Prepair 1000+ v1.3 SGSH Seb Lunke Added phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) for gene: SGSH
Prepair 1000+ v1.3 SGCG Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2C, 253700 (3) for gene: SGCG
Prepair 1000+ v1.3 SGCD Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2F, 601287 (3) for gene: SGCD
Prepair 1000+ v1.3 SGCB Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2E, 604286 (3) for gene: SGCB
Prepair 1000+ v1.3 SGCA Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2D, 608099 (3) for gene: SGCA
Prepair 1000+ v1.3 SERPINH1 Seb Lunke Added phenotypes Orofaciodigital syndrome VI, 277170 (3) for gene: SERPINH1
Prepair 1000+ v1.3 SERAC1 Seb Lunke Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) for gene: SERAC1
Prepair 1000+ v1.3 SEPSECS Seb Lunke Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 (3) for gene: SEPSECS
Prepair 1000+ v1.3 SEC23B Seb Lunke Added phenotypes Dyserythropoietic anemia, congenital, type II, 224100 (3) for gene: SEC23B
Prepair 1000+ v1.3 SDCCAG8 Seb Lunke Added phenotypes Bardet-Biedl syndrome 16, 615993 (3) for gene: SDCCAG8
Prepair 1000+ v1.3 SCO2 Seb Lunke Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) for gene: SCO2
Prepair 1000+ v1.3 SC5D Seb Lunke Added phenotypes Lathosterolosis, 607330 (3) for gene: SC5D
Prepair 1000+ v1.3 SAMHD1 Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 5, 612952 (3) for gene: SAMHD1
Prepair 1000+ v1.3 SACS Seb Lunke Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) for gene: SACS
Prepair 1000+ v1.3 RYR1 Seb Lunke Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000 for gene: RYR1
Prepair 1000+ v1.3 RTEL1 Seb Lunke Added phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 (3) for gene: RTEL1
Prepair 1000+ v1.3 RPS6KA3 Seb Lunke Added phenotypes Coffin-Lowry syndrome for gene: RPS6KA3
Prepair 1000+ v1.3 RPGRIP1L Seb Lunke Added phenotypes Meckel syndrome 5, 611561 (3) for gene: RPGRIP1L
Prepair 1000+ v1.3 RPE65 Seb Lunke Added phenotypes Leber congenital amaurosis 2, 204100 (3) for gene: RPE65
Prepair 1000+ v1.3 RP2 Seb Lunke Added phenotypes Retinitis pigmentosa 2, 312600 (3) for gene: RP2
Prepair 1000+ v1.3 RNASEH2C Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 3, 610329 (3) for gene: RNASEH2C
Prepair 1000+ v1.3 RNASEH2B Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 2, 610181 (3) for gene: RNASEH2B
Prepair 1000+ v1.3 RNASEH2A Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 4, 610333 (3) for gene: RNASEH2A
Prepair 1000+ v1.3 RMRP Seb Lunke Added phenotypes Cartilage-hair hypoplasia, 250250 (3) for gene: RMRP
Prepair 1000+ v1.3 RMND1 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 (3) for gene: RMND1
Prepair 1000+ v1.3 RDH12 Seb Lunke Added phenotypes Leber congenital amaurosis 13, 612712 (3) for gene: RDH12
Prepair 1000+ v1.3 RBBP8 Seb Lunke Added phenotypes Seckel syndrome 2, 606744 (3) for gene: RBBP8
Prepair 1000+ v1.3 RAX Seb Lunke Added phenotypes Microphthalmia, isolated 3, 611038 (3) for gene: RAX
Prepair 1000+ v1.3 RARS2 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 (3) for gene: RARS2
Prepair 1000+ v1.3 RAPSN Seb Lunke Added phenotypes Fetal akinesia deformation sequence, 208150 (3) for gene: RAPSN
Prepair 1000+ v1.3 RAG2 Seb Lunke Added phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) for gene: RAG2
Publications for gene RAG2 were updated from 26996199; 30046960 to 30046960; 26996199
Prepair 1000+ v1.3 RAG1 Seb Lunke Added phenotypes Severe combined immunodeficiency, B cell-negative, 601457 (3) for gene: RAG1
Prepair 1000+ v1.3 RAB3GAP2 Seb Lunke Added phenotypes Warburg micro syndrome 2, 614225 (3) for gene: RAB3GAP2
Prepair 1000+ v1.3 RAB3GAP1 Seb Lunke Added phenotypes Warburg micro syndrome 1, 600118 (3) for gene: RAB3GAP1
Prepair 1000+ v1.3 RAB23 Seb Lunke Added phenotypes Carpenter syndrome, 201000 (3) for gene: RAB23
Prepair 1000+ v1.3 RAB18 Seb Lunke Added phenotypes Warburg micro syndrome 3, 614222 (3) for gene: RAB18
Prepair 1000+ v1.3 QDPR Seb Lunke Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) for gene: QDPR
Prepair 1000+ v1.3 PUS1 Seb Lunke Added phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) for gene: PUS1
Prepair 1000+ v1.3 PTS Seb Lunke Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) for gene: PTS
Prepair 1000+ v1.3 PSAP Seb Lunke Added phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) for gene: PSAP
Prepair 1000+ v1.3 PRPS1 Seb Lunke Added phenotypes Arts syndrome, 301835 (3) for gene: PRPS1
Prepair 1000+ v1.3 PROP1 Seb Lunke Added phenotypes Pituitary hormone deficiency, combined, 2, 262600 (3) for gene: PROP1
Prepair 1000+ v1.3 PRF1 Seb Lunke Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) for gene: PRF1
Prepair 1000+ v1.3 PRDM5 Seb Lunke Added phenotypes Brittle cornea syndrome 2, 614170 (3) for gene: PRDM5
Prepair 1000+ v1.3 PQBP1 Seb Lunke Added phenotypes Renpenning syndrome, 309500 (3) for gene: PQBP1
Prepair 1000+ v1.3 PPT1 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 (3) for gene: PPT1
Prepair 1000+ v1.3 POU1F1 Seb Lunke Added phenotypes Pituitary hormone deficiency, combined, 1, 613038 (3) for gene: POU1F1
Prepair 1000+ v1.3 POR Seb Lunke Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) for gene: POR
Prepair 1000+ v1.3 POMT2 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) for gene: POMT2
Prepair 1000+ v1.3 POMT1 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) for gene: POMT1
Prepair 1000+ v1.3 POMGNT1 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) for gene: POMGNT1
Prepair 1000+ v1.3 POLR3B Seb Lunke Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) for gene: POLR3B
Prepair 1000+ v1.3 POLR1C Seb Lunke Added phenotypes Treacher Collins syndrome 3, 248390 (3) for gene: POLR1C
Prepair 1000+ v1.3 POLG Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) for gene: POLG
Prepair 1000+ v1.3 PNPO Seb Lunke Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) for gene: PNPO
Prepair 1000+ v1.3 PNKP Seb Lunke Added phenotypes Microcephaly, seizures, and developmental delay, 613402 (3) for gene: PNKP
Prepair 1000+ v1.3 PMM2 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 (3) for gene: PMM2
Prepair 1000+ v1.3 PLPBP Seb Lunke Added phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive for gene: PLPBP
Prepair 1000+ v1.3 PLP1 Seb Lunke Added phenotypes Pelizaeus-Merzbacher disease, 312080 (3) for gene: PLP1
Prepair 1000+ v1.3 PLOD1 Seb Lunke Added phenotypes Ehlers-Danlos syndrome, type VI, 225400 (3) for gene: PLOD1
Prepair 1000+ v1.3 PLA2G6 Seb Lunke Added phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217; Infantile neuroaxonal dystrophy 1 MIM#256600 for gene: PLA2G6
Prepair 1000+ v1.3 PKHD1 Seb Lunke Added phenotypes Polycystic kidney and hepatic disease, 263200 (3) for gene: PKHD1
Prepair 1000+ v1.3 PIGT Seb Lunke Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT
Prepair 1000+ v1.3 PIGN Seb Lunke Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) for gene: PIGN
Prepair 1000+ v1.3 PIGG Seb Lunke Added phenotypes Mental retardation, autosomal recessive 53, 616917 (3) for gene: PIGG
Prepair 1000+ v1.3 PIBF1 Seb Lunke Added phenotypes Joubert syndrome 33 (MIM#617767) for gene: PIBF1
Publications for gene PIBF1 were updated from 26167768; 30858804; 29695797; 33004012 to 29695797; 33004012; 30858804; 26167768
Prepair 1000+ v1.3 PHYH Seb Lunke Added phenotypes Refsum disease, 266500 (3) for gene: PHYH
Prepair 1000+ v1.3 PHGDH Seb Lunke Added phenotypes Neu-Laxova syndrome1, 256520 (3) for gene: PHGDH
Prepair 1000+ v1.3 PHF8 Seb Lunke Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 (3) for gene: PHF8
Prepair 1000+ v1.3 PGM3 Seb Lunke Added phenotypes Immunodeficiency 23, 615816 (3) for gene: PGM3
Prepair 1000+ v1.3 PGM1 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type It, 614921 (3) for gene: PGM1
Prepair 1000+ v1.3 PGK1 Seb Lunke Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 (3) for gene: PGK1
Publications for gene PGK1 were updated from 16567715; 30887539; 22348148; 28580215 to 22348148; 16567715; 28580215; 30887539
Prepair 1000+ v1.3 PGAP2 Seb Lunke Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) for gene: PGAP2
Prepair 1000+ v1.3 PFKM Seb Lunke Added phenotypes Glycogen storage disease VII, 232800 (3) for gene: PFKM
Prepair 1000+ v1.3 PEX7 Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) for gene: PEX7
Prepair 1000+ v1.3 PEX6 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
Prepair 1000+ v1.3 PEX5 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 for gene: PEX5
Prepair 1000+ v1.3 PEX26 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 for gene: PEX26
Prepair 1000+ v1.3 PEX2 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866 for gene: PEX2
Prepair 1000+ v1.3 PEX16 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 for gene: PEX16
Prepair 1000+ v1.3 PEX13 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13
Prepair 1000+ v1.3 PEX12 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 for gene: PEX12
Prepair 1000+ v1.3 PEX10 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 for gene: PEX10
Prepair 1000+ v1.3 PEX1 Seb Lunke Added phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1
Prepair 1000+ v1.3 PET100 Seb Lunke Added phenotypes Mitochondrial complex IV deficiency, 220110 (3) for gene: PET100
Prepair 1000+ v1.3 PEPD Seb Lunke Added phenotypes Prolidase deficiency, 170100 (3) for gene: PEPD
Prepair 1000+ v1.3 PDHB Seb Lunke Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) for gene: PDHB
Prepair 1000+ v1.3 PDHA1 Seb Lunke Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) for gene: PDHA1
Publications for gene PDHA1 were updated from 28584645; 22142326 to 22142326; 28584645
Prepair 1000+ v1.3 PCNT Seb Lunke Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) for gene: PCNT
Prepair 1000+ v1.3 PCDH19 Seb Lunke Added phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088) for gene: PCDH19
Publications for gene PCDH19 were updated from 18469813; 30287595 to 30287595; 18469813
Prepair 1000+ v1.3 PCDH15 Seb Lunke Added phenotypes Usher syndrome, type 1F, 602083 (3) for gene: PCDH15
Prepair 1000+ v1.3 PCCB Seb Lunke Added phenotypes Propionicacidemia, 606054 (3) for gene: PCCB
Prepair 1000+ v1.3 PCCA Seb Lunke Added phenotypes Propionicacidemia, 606054 (3) for gene: PCCA
Prepair 1000+ v1.3 PC Seb Lunke Added phenotypes Pyruvate carboxylase deficiency, 266150 (3) for gene: PC
Prepair 1000+ v1.3 PANK2 Seb Lunke Added phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200 for gene: PANK2
Prepair 1000+ v1.3 PAK3 Seb Lunke Added phenotypes Mental retardation, X-linked 30/47, 300558 (3) for gene: PAK3
Prepair 1000+ v1.3 PAH Seb Lunke Added phenotypes Phenylketonuria, 261600 (3) for gene: PAH
Prepair 1000+ v1.3 P3H1 Seb Lunke Added phenotypes Osteogenesis imperfecta, type VIII, 610915 (3) for gene: P3H1
Prepair 1000+ v1.3 OTC Seb Lunke Added phenotypes Ornithine transcarbamylase deficiency, 311250 (3) for gene: OTC
Prepair 1000+ v1.3 OSTM1 Seb Lunke Added phenotypes Osteopetrosis, autosomal recessive 5, 259720 (3) for gene: OSTM1
Prepair 1000+ v1.3 OSGEP Seb Lunke Added phenotypes Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive for gene: OSGEP
Prepair 1000+ v1.3 OPHN1 Seb Lunke Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) for gene: OPHN1
Prepair 1000+ v1.3 OPA3 Seb Lunke Added phenotypes 3-methylglutaconic aciduria, type III, 258501 (3) for gene: OPA3
Prepair 1000+ v1.3 OPA1 Seb Lunke Added phenotypes Behr syndrome, 210000 (3), Autosomal recessive for gene: OPA1
Prepair 1000+ v1.3 OFD1 Seb Lunke Added phenotypes Joubert syndrome 10, 300804 (3) for gene: OFD1
Prepair 1000+ v1.3 OCRL Seb Lunke Added phenotypes Lowe syndrome, 309000 (3) for gene: OCRL
Prepair 1000+ v1.3 NTRK1 Seb Lunke Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 (3) for gene: NTRK1
Prepair 1000+ v1.3 NR0B1 Seb Lunke Added phenotypes 46XY sex reversal 2, dosage-sensitive, 300018 (3) for gene: NR0B1
Prepair 1000+ v1.3 NPHS2 Seb Lunke Added phenotypes Nephrotic syndrome, type 2, 600995 (3) for gene: NPHS2
Prepair 1000+ v1.3 NPHS1 Seb Lunke Added phenotypes Nephrotic syndrome, type 1, 256300 (3) for gene: NPHS1
Prepair 1000+ v1.3 NPHP3 Seb Lunke Added phenotypes Meckel syndrome 7, 267010 (3) for gene: NPHP3
Prepair 1000+ v1.3 NPHP1 Seb Lunke Added phenotypes Joubert syndrome 4, 609583 (3) for gene: NPHP1
Prepair 1000+ v1.3 NPC2 Seb Lunke Added phenotypes Niemann-pick disease, type C2, MIM#607625 for gene: NPC2
Prepair 1000+ v1.3 NPC1 Seb Lunke Added phenotypes Niemann-Pick disease, type C1, MIM#257220 for gene: NPC1
Publications for gene NPC1 were updated from 11333381; 26910362 to 26910362; 11333381
Prepair 1000+ v1.3 NNT Seb Lunke Added phenotypes Glucocorticoid deficiency 4, 614736 (3) for gene: NNT
Prepair 1000+ v1.3 NGLY1 Seb Lunke Added phenotypes Congenital disorder of deglycosylation, 615273 (3) for gene: NGLY1
Prepair 1000+ v1.3 NEU1 Seb Lunke Added phenotypes Sialidosis, type I, 256550 (3) for gene: NEU1
Prepair 1000+ v1.3 NEB Seb Lunke Added phenotypes Nemaline myopathy 2, autosomal recessive (MIM#256030); Arthrogryposis multiplex congenita 6 (MIM#619334) for gene: NEB
Prepair 1000+ v1.3 NDUFV1 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFV1
Prepair 1000+ v1.3 NDUFS7 Seb Lunke Added phenotypes Leigh syndrome, 256000 (3) for gene: NDUFS7
Prepair 1000+ v1.3 NDUFS6 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: NDUFS6
Prepair 1000+ v1.3 NDUFS4 Seb Lunke Added phenotypes Leigh syndrome, 256000 (3) for gene: NDUFS4
Prepair 1000+ v1.3 NDUFAF5 Seb Lunke Added phenotypes Mitochondrial complex 1 deficiency, 252010 (3) for gene: NDUFAF5
Prepair 1000+ v1.3 NDUFAF2 Seb Lunke Added phenotypes Leigh syndrome, 256000 (3) for gene: NDUFAF2
Prepair 1000+ v1.3 NDRG1 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 (3) for gene: NDRG1
Prepair 1000+ v1.3 NDP Seb Lunke Added phenotypes Norrie disease, 310600 (3) for gene: NDP
Prepair 1000+ v1.3 NDE1 Seb Lunke Added phenotypes Lissencephaly 4 (with microcephaly), 614019 (3) for gene: NDE1
Prepair 1000+ v1.3 NCF2 Seb Lunke Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) for gene: NCF2
Prepair 1000+ v1.3 NBN Seb Lunke Added phenotypes Nijmegen breakage syndrome, 251260 (3) for gene: NBN
Prepair 1000+ v1.3 NARS2 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 24, 616239 (3) for gene: NARS2
Prepair 1000+ v1.3 NALCN Seb Lunke Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) for gene: NALCN
Prepair 1000+ v1.3 NAGS Seb Lunke Added phenotypes N-acetylglutamate synthase deficiency, 237310 (3) for gene: NAGS
Prepair 1000+ v1.3 NAGLU Seb Lunke Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3) for gene: NAGLU
Prepair 1000+ v1.3 NAGA Seb Lunke Added phenotypes Schindler disease, type I, 609241 (3) for gene: NAGA
Prepair 1000+ v1.3 MYO7A Seb Lunke Added phenotypes Usher syndrome, type 1B, 276900 (3) for gene: MYO7A
Prepair 1000+ v1.3 MYO5B Seb Lunke Added phenotypes Microvillus inclusion disease, 251850 (3) for gene: MYO5B
Prepair 1000+ v1.3 MVK Seb Lunke Added phenotypes Mevalonic aciduria, 610377 (3) for gene: MVK
Prepair 1000+ v1.3 MUT Seb Lunke Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 (3) for gene: MUT
Prepair 1000+ v1.3 MUSK Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) for gene: MUSK
Prepair 1000+ v1.3 MTTP Seb Lunke Added phenotypes Abetalipoproteinemia, 200100 (3) for gene: MTTP
Prepair 1000+ v1.3 MTRR Seb Lunke Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) for gene: MTRR
Prepair 1000+ v1.3 MTR Seb Lunke Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) for gene: MTR
Prepair 1000+ v1.3 MTMR2 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 (3) for gene: MTMR2
Prepair 1000+ v1.3 MTM1 Seb Lunke Added phenotypes Myotubular myopathy, X-linked, 310400 (3) for gene: MTM1
Prepair 1000+ v1.3 MTHFR Seb Lunke Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 (3) for gene: MTHFR
Prepair 1000+ v1.3 MTFMT Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 15, 614947 (3) for gene: MTFMT
Prepair 1000+ v1.3 MRE11 Seb Lunke Added phenotypes Ataxia-telangiectasia-like disorder, 604391 (3) for gene: MRE11
Prepair 1000+ v1.3 MPV17 Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) for gene: MPV17
Prepair 1000+ v1.3 MPL Seb Lunke Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3) for gene: MPL
Prepair 1000+ v1.3 MPI Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 (3) for gene: MPI
Prepair 1000+ v1.3 MOCS2 Seb Lunke Added phenotypes Molybdenum cofactor deficiency B, 252160 (3) for gene: MOCS2
Prepair 1000+ v1.3 MOCS1 Seb Lunke Added phenotypes Molybdenum cofactor deficiency A, 252150 (3) for gene: MOCS1
Prepair 1000+ v1.3 MMADHC Seb Lunke Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) for gene: MMADHC
Prepair 1000+ v1.3 MMACHC Seb Lunke Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) for gene: MMACHC
Prepair 1000+ v1.3 MMAB Seb Lunke Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) for gene: MMAB
Prepair 1000+ v1.3 MMAA Seb Lunke Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) for gene: MMAA
Prepair 1000+ v1.3 MLYCD Seb Lunke Added phenotypes Malonyl-CoA decarboxylase deficiency, 248360 (3) for gene: MLYCD
Prepair 1000+ v1.3 MLC1 Seb Lunke Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) for gene: MLC1
Prepair 1000+ v1.3 MKS1 Seb Lunke Added phenotypes Meckel syndrome 1, 249000 (3) for gene: MKS1
Prepair 1000+ v1.3 MKKS Seb Lunke Added phenotypes McKusick-Kaufman syndrome, 236700 (3) for gene: MKKS
Prepair 1000+ v1.3 MID1 Seb Lunke Added phenotypes Opitz GBBB syndrome, type I, 300000 (3) for gene: MID1
Prepair 1000+ v1.3 MFSD8 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951 (3) for gene: MFSD8
Prepair 1000+ v1.3 MFN2 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive for gene: MFN2
Prepair 1000+ v1.3 METTL23 Seb Lunke Added phenotypes Mental retardation, autosomal recessive 44, 615942 (3) for gene: METTL23
Prepair 1000+ v1.3 MESP2 Seb Lunke Added phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) for gene: MESP2
Prepair 1000+ v1.3 MED17 Seb Lunke Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) for gene: MED17
Prepair 1000+ v1.3 MED12 Seb Lunke Added phenotypes Lujan-Fryns syndrome, 309520 (3) for gene: MED12
Prepair 1000+ v1.3 MECP2 Seb Lunke Added phenotypes Encephalopathy, neonatal severe, 300673 (3) for gene: MECP2
Prepair 1000+ v1.3 MCPH1 Seb Lunke Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 (3) for gene: MCPH1
Prepair 1000+ v1.3 MCOLN1 Seb Lunke Added phenotypes Mucolipidosis IV, 252650 (3) for gene: MCOLN1
Prepair 1000+ v1.3 MASP1 Seb Lunke Added phenotypes 3MC syndrome 1, 257920 (3) for gene: MASP1
Prepair 1000+ v1.3 MANBA Seb Lunke Added phenotypes Mannosidosis, beta, 248510 (3) for gene: MANBA
Prepair 1000+ v1.3 MAN2B1 Seb Lunke Added phenotypes Mannosidosis, alpha-, types I and II, 248500 (3) for gene: MAN2B1
Prepair 1000+ v1.3 LZTFL1 Seb Lunke Added phenotypes Bardet-Biedl syndrome 17, 615994 (3) for gene: LZTFL1
Prepair 1000+ v1.3 LYST Seb Lunke Added phenotypes Chediak-Higashi syndrome, 214500 (3) for gene: LYST
Prepair 1000+ v1.3 LRPPRC Seb Lunke Added phenotypes Leigh syndrome, French-Canadian type, 220111 (3) for gene: LRPPRC
Prepair 1000+ v1.3 LRP2 Seb Lunke Added phenotypes Donnai-Barrow syndrome, 222448 (3) for gene: LRP2
Prepair 1000+ v1.3 LRAT Seb Lunke Added phenotypes Leber congenital amaurosis 14, 613341 (3) for gene: LRAT
Prepair 1000+ v1.3 LPL Seb Lunke Added phenotypes Lipoprotein lipase deficiency, 238600 (3) for gene: LPL
Prepair 1000+ v1.3 LMNA Seb Lunke Added phenotypes Restrictive dermopathy, lethal, 275210 (3) for gene: LMNA
Publications for gene LMNA were updated from 18551513; 15148145; 17377071 to 15148145; 18551513; 17377071
Prepair 1000+ v1.3 LMBRD1 Seb Lunke Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) for gene: LMBRD1
Prepair 1000+ v1.3 LIPA Seb Lunke Added phenotypes Cholesteryl ester storage disease, 278000 (3) for gene: LIPA
Prepair 1000+ v1.3 LIG4 Seb Lunke Added phenotypes LIG4 syndrome, 606593 (3) for gene: LIG4
Prepair 1000+ v1.3 LIFR Seb Lunke Added phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) for gene: LIFR
Prepair 1000+ v1.3 LHX3 Seb Lunke Added phenotypes Pituitary hormone deficiency, combined, 3, 221750 (3) for gene: LHX3
Prepair 1000+ v1.3 LDLRAP1 Seb Lunke Added phenotypes Hypercholesterolemia, familial, autosomal recessive, 603813 (3) for gene: LDLRAP1
Prepair 1000+ v1.3 LDLR Seb Lunke Added phenotypes LDL cholesterol level QTL2/Hypercholesterolemia, familial for gene: LDLR
Prepair 1000+ v1.3 LCA5 Seb Lunke Added phenotypes Leber congenital amaurosis 5, 604537 (3) for gene: LCA5
Prepair 1000+ v1.3 LARS Seb Lunke Added phenotypes Infantile liver failure syndrome 1, MIM# 615438 for gene: LARS
Prepair 1000+ v1.3 LARGE1 Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) for gene: LARGE1
Prepair 1000+ v1.3 LAMC2 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMC2
Prepair 1000+ v1.3 LAMB3 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMB3
Prepair 1000+ v1.3 LAMB2 Seb Lunke Added phenotypes Pierson syndrome, 609049 (3) for gene: LAMB2
Prepair 1000+ v1.3 LAMB1 Seb Lunke Added phenotypes Lissencephaly 5, 615191 (3) for gene: LAMB1
Prepair 1000+ v1.3 LAMA3 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMA3
Prepair 1000+ v1.3 LAMA2 Seb Lunke Added phenotypes Muscular dystrophy, congenital merosin-deficient, 607855 (3) for gene: LAMA2
Prepair 1000+ v1.3 L2HGDH Seb Lunke Added phenotypes L-2-hydroxyglutaric aciduria, 236792 (3) for gene: L2HGDH
Prepair 1000+ v1.3 L1CAM Seb Lunke Added phenotypes MASA syndrome, 303350 (3) for gene: L1CAM
Prepair 1000+ v1.3 KRT14 Seb Lunke Added phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3) for gene: KRT14
Prepair 1000+ v1.3 KIF7 Seb Lunke Added phenotypes Hydrolethalus syndrome 2, 614120 (3) for gene: KIF7
Prepair 1000+ v1.3 KIF1A Seb Lunke Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 (3) for gene: KIF1A
Prepair 1000+ v1.3 KDM5C Seb Lunke Added phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) for gene: KDM5C
Prepair 1000+ v1.3 KCNQ1 Seb Lunke Added phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3) for gene: KCNQ1
Publications for gene KCNQ1 were updated from 29033053; 28438721 to 29033053; 28438721
Prepair 1000+ v1.3 KCNJ11 Seb Lunke Added phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) for gene: KCNJ11
Prepair 1000+ v1.3 KCNJ1 Seb Lunke Added phenotypes Bartter syndrome, type 2, 241200 (3) for gene: KCNJ1
Prepair 1000+ v1.3 KATNB1 Seb Lunke Added phenotypes Lissencephaly 6, with microcephaly, 616212 (3) for gene: KATNB1
Prepair 1000+ v1.3 JAK3 Seb Lunke Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) for gene: JAK3
Prepair 1000+ v1.3 IVD Seb Lunke Added phenotypes Isovaleric acidemia, 243500 (3) for gene: IVD
Prepair 1000+ v1.3 ITPR1 Seb Lunke Added phenotypes Gillespie syndrome, 206700 (3), Autosomal recessive for gene: ITPR1
Prepair 1000+ v1.3 ITGB4 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) for gene: ITGB4
Prepair 1000+ v1.3 ITGA6 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) for gene: ITGA6
Publications for gene ITGA6 were updated from 31502654; 27607025; 9158140; 34525201; 20301336 to 9158140; 20301336; 27607025; 34525201; 31502654
Prepair 1000+ v1.3 IQSEC2 Seb Lunke Added phenotypes Mental retardation, X-linked 1, 309530 (3) for gene: IQSEC2
Prepair 1000+ v1.3 INVS Seb Lunke Added phenotypes Nephronophthisis 2, infantile, 602088 (3) for gene: INVS
Prepair 1000+ v1.3 INPP5E Seb Lunke Added phenotypes Joubert syndrome 1, 213300 (3) for gene: INPP5E
Prepair 1000+ v1.3 IL7R Seb Lunke Added phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) for gene: IL7R
Prepair 1000+ v1.3 IL2RG Seb Lunke Added phenotypes Severe combined immunodeficiency, X-linked, 300400 (3) for gene: IL2RG
Prepair 1000+ v1.3 IL1RAPL1 Seb Lunke Added phenotypes Mental retardation, X-linked 21/34, 300143 (3) for gene: IL1RAPL1
Prepair 1000+ v1.3 IKBKB Seb Lunke Added phenotypes Immunodeficiency 15, 615592 (3) for gene: IKBKB
Prepair 1000+ v1.3 IGHMBP2 Seb Lunke Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 (3) for gene: IGHMBP2
Prepair 1000+ v1.3 IDUA Seb Lunke Added phenotypes Mucopolysaccharidosis Ih, 607014 (3) for gene: IDUA
Prepair 1000+ v1.3 IDS Seb Lunke Added phenotypes Mucopolysaccharidosis II, 309900 (3) for gene: IDS
Prepair 1000+ v1.3 HYLS1 Seb Lunke Added phenotypes Hydrolethalus syndrome, 236680 (3) for gene: HYLS1
Prepair 1000+ v1.3 HUWE1 Seb Lunke Added phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 (3) for gene: HUWE1
Prepair 1000+ v1.3 HSD3B2 Seb Lunke Added phenotypes 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) for gene: HSD3B2
Prepair 1000+ v1.3 HSD17B4 Seb Lunke Added phenotypes D-bifunctional protein deficiency, 261515 (3) for gene: HSD17B4
Prepair 1000+ v1.3 HSD17B10 Seb Lunke Added phenotypes HSD10 mitochondrial disease for gene: HSD17B10
Prepair 1000+ v1.3 HPS6 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 6, 614075 (3) for gene: HPS6
Prepair 1000+ v1.3 HPS5 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 5, 614074 (3) for gene: HPS5
Prepair 1000+ v1.3 HPS4 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 4, 614073 (3) for gene: HPS4
Prepair 1000+ v1.3 HPS3 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 3, 614072 (3) for gene: HPS3
Prepair 1000+ v1.3 HPS1 Seb Lunke Added phenotypes Hermansky-Pudlak syndrome 1, 203300 (3) for gene: HPS1
Prepair 1000+ v1.3 HPRT1 Seb Lunke Added phenotypes Lesch-Nyhan syndrome, 300322 (3) for gene: HPRT1
Prepair 1000+ v1.3 HPD Seb Lunke Added phenotypes Tyrosinemia, type III, 276710 (3) for gene: HPD
Prepair 1000+ v1.3 HMGCS2 Seb Lunke Added phenotypes HMG-CoA synthase-2 deficiency, 605911 (3) for gene: HMGCS2
Prepair 1000+ v1.3 HMGCL Seb Lunke Added phenotypes HMG-CoA lyase deficiency, 246450 (3) for gene: HMGCL
Prepair 1000+ v1.3 HLCS Seb Lunke Added phenotypes Holocarboxylase synthetase deficiency, 253270 (3) for gene: HLCS
Prepair 1000+ v1.3 HIBCH Seb Lunke Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) for gene: HIBCH
Prepair 1000+ v1.3 HGSNAT Seb Lunke Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) for gene: HGSNAT
Prepair 1000+ v1.3 HFE2 Seb Lunke Added phenotypes Hemochromatosis, type 2A, 602390 (3) for gene: HFE2
Prepair 1000+ v1.3 HEXB Seb Lunke Added phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) for gene: HEXB
Prepair 1000+ v1.3 HEXA Seb Lunke Added phenotypes Tay-Sachs disease, 272800 (3) for gene: HEXA
Prepair 1000+ v1.3 HCFC1 Seb Lunke Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) for gene: HCFC1
Prepair 1000+ v1.3 HBB Seb Lunke Added phenotypes Thalassemias, beta-, 613985 (3) for gene: HBB
Prepair 1000+ v1.3 HAX1 Seb Lunke Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) for gene: HAX1
Prepair 1000+ v1.3 HAMP Seb Lunke Added phenotypes Hemochromatosis, type 2B, 613313 (3) for gene: HAMP
Prepair 1000+ v1.3 HADHB Seb Lunke Added phenotypes Trifunctional protein deficiency, 609015 (3) for gene: HADHB
Prepair 1000+ v1.3 HADHA Seb Lunke Added phenotypes Fatty liver, acute, of pregnancy, 609016 (3) for gene: HADHA
Prepair 1000+ v1.3 HADH Seb Lunke Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) for gene: HADH
Prepair 1000+ v1.3 GUSB Seb Lunke Added phenotypes Mucopolysaccharidosis VII, 253220 (3) for gene: GUSB
Prepair 1000+ v1.3 GUCY2D Seb Lunke Added phenotypes Leber congenital amaurosis 1, 204000 (3) for gene: GUCY2D
Prepair 1000+ v1.3 GSS Seb Lunke Added phenotypes Glutathione synthetase deficiency, 266130 (3) for gene: GSS
Prepair 1000+ v1.3 GPSM2 Seb Lunke Added phenotypes Chudley-McCullough syndrome, 604213 (3) for gene: GPSM2
Prepair 1000+ v1.3 GPR143 Seb Lunke Added phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 (3) for gene: GPR143
Prepair 1000+ v1.3 GPC3 Seb Lunke Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) for gene: GPC3
Prepair 1000+ v1.3 GORAB Seb Lunke Added phenotypes Geroderma osteodysplasticum, 231070 (3) for gene: GORAB
Prepair 1000+ v1.3 GNS Seb Lunke Added phenotypes Mucopolysaccharidosis type IIID, 252940 (3) for gene: GNS
Prepair 1000+ v1.3 GNPTG Seb Lunke Added phenotypes Mucolipidosis III gamma, 252605 (3) for gene: GNPTG
Prepair 1000+ v1.3 GNPTAB Seb Lunke Added phenotypes Mucolipidosis III alpha/beta, 252600 (3) for gene: GNPTAB
Prepair 1000+ v1.3 GNPAT Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) for gene: GNPAT
Prepair 1000+ v1.3 GNE Seb Lunke Added phenotypes Inclusion body myopathy, autosomal recessive, 600737 (3) for gene: GNE
Prepair 1000+ v1.3 GNB5 Seb Lunke Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive for gene: GNB5
Prepair 1000+ v1.3 GLE1 Seb Lunke Added phenotypes Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) for gene: GLE1
Prepair 1000+ v1.3 GLDC Seb Lunke Added phenotypes Glycine encephalopathy, 605899 (3) for gene: GLDC
Prepair 1000+ v1.3 GLB1 Seb Lunke Added phenotypes Mucopolysaccharidosis type IVB (Morquio), 253010 (3) for gene: GLB1
Prepair 1000+ v1.3 GLA Seb Lunke Added phenotypes Fabry disease, MIM#301500 for gene: GLA
Prepair 1000+ v1.3 GJB1 Seb Lunke Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800) for gene: GJB1
Prepair 1000+ v1.3 GHR Seb Lunke Added phenotypes Laron dwarfism, 262500 (3) for gene: GHR
Prepair 1000+ v1.3 GFM1 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 (3) for gene: GFM1
Prepair 1000+ v1.3 GDF5 Seb Lunke Added phenotypes Chondrodysplasia, Grebe type, 200700 (3) for gene: GDF5
Prepair 1000+ v1.3 GDF1 Seb Lunke Added phenotypes Right atrial isomerism, 208530 (3) for gene: GDF1
Prepair 1000+ v1.3 GDAP1 Seb Lunke Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) for gene: GDAP1
Prepair 1000+ v1.3 GCH1 Seb Lunke Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) for gene: GCH1
Prepair 1000+ v1.3 GCDH Seb Lunke Added phenotypes Glutaricaciduria, type I, 231670 (3) for gene: GCDH
Prepair 1000+ v1.3 GBE1 Seb Lunke Added phenotypes Glycogen storage disease IV, 232500 (3) for gene: GBE1
Prepair 1000+ v1.3 GATM Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 3, 612718 (3) for gene: GATM
Prepair 1000+ v1.3 GAMT Seb Lunke Added phenotypes Cerebral creatine deficiency syndrome 2, 612736 (3) for gene: GAMT
Prepair 1000+ v1.3 GALT Seb Lunke Added phenotypes Galactosemia, 230400 (3) for gene: GALT
Prepair 1000+ v1.3 GALNS Seb Lunke Added phenotypes Mucopolysaccharidosis IVA, 253000 (3) for gene: GALNS
Prepair 1000+ v1.3 GALC Seb Lunke Added phenotypes Krabbe disease, 245200 (3) for gene: GALC
Prepair 1000+ v1.3 GAA Seb Lunke Added phenotypes Glycogen storage disease II, 232300 (3) for gene: GAA
Prepair 1000+ v1.3 G6PC3 Seb Lunke Added phenotypes Dursun syndrome, 612541 (3) for gene: G6PC3
Prepair 1000+ v1.3 G6PC Seb Lunke Added phenotypes Glycogen storage disease Ia, 232200 (3) for gene: G6PC
Prepair 1000+ v1.3 FUCA1 Seb Lunke Added phenotypes Fucosidosis, 230000 (3) for gene: FUCA1
Prepair 1000+ v1.3 FTSJ1 Seb Lunke Added phenotypes Mental retardation, X-linked 9, 309549 (3) for gene: FTSJ1
Prepair 1000+ v1.3 FREM2 Seb Lunke Added phenotypes Fraser syndrome, 219000 (3) for gene: FREM2
Prepair 1000+ v1.3 FRAS1 Seb Lunke Added phenotypes Fraser syndrome, 219000 (3) for gene: FRAS1
Prepair 1000+ v1.3 FOXRED1 Seb Lunke Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: FOXRED1
Prepair 1000+ v1.3 FOXN1 Seb Lunke Added phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) for gene: FOXN1
Prepair 1000+ v1.3 FMR1 Seb Lunke Added phenotypes Fragile X syndrome for gene: FMR1
Prepair 1000+ v1.3 FLNA Seb Lunke Added phenotypes FG syndrome 2, 300321 (3) for gene: FLNA
Prepair 1000+ v1.3 FKTN Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) for gene: FKTN
Prepair 1000+ v1.3 FKRP Seb Lunke Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) for gene: FKRP
Prepair 1000+ v1.3 FKBP10 Seb Lunke Added phenotypes Bruck syndrome 1, 259450 (3) for gene: FKBP10
Prepair 1000+ v1.3 FHL1 Seb Lunke Added phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) for gene: FHL1
Prepair 1000+ v1.3 FH Seb Lunke Added phenotypes Fumarase deficiency, 606812 (3) for gene: FH
Prepair 1000+ v1.3 FBXO7 Seb Lunke Added phenotypes Parkinson disease 15, autosomal recessive, 260300 (3) for gene: FBXO7
Prepair 1000+ v1.3 FBP1 Seb Lunke Added phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 (3) for gene: FBP1
Prepair 1000+ v1.3 FAT4 Seb Lunke Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) for gene: FAT4
Prepair 1000+ v1.3 FANCL Seb Lunke Added phenotypes Fanconi anemia, complementation group L, 614083 (3) for gene: FANCL
Prepair 1000+ v1.3 FANCI Seb Lunke Added phenotypes Fanconi anemia, complementation group I, 609053 (3) for gene: FANCI
Prepair 1000+ v1.3 FANCG Seb Lunke Added phenotypes Fanconi anemia, complementation group G, 614082 (3) for gene: FANCG
Prepair 1000+ v1.3 FANCF Seb Lunke Added phenotypes Fanconi anemia, complementation group F, 603467 (3) for gene: FANCF
Prepair 1000+ v1.3 FANCE Seb Lunke Added phenotypes Fanconi anemia, complementation group E, 600901 (3) for gene: FANCE
Prepair 1000+ v1.3 FANCD2 Seb Lunke Added phenotypes Fanconi anemia, complementation group D2, 227646 (3) for gene: FANCD2
Prepair 1000+ v1.3 FANCC Seb Lunke Added phenotypes Fanconi anemia, complementation group C, 227645 (3) for gene: FANCC
Prepair 1000+ v1.3 FANCB Seb Lunke Added phenotypes Fanconi anemia, complementation group B, 300514 (3) for gene: FANCB
Prepair 1000+ v1.3 FANCA Seb Lunke Added phenotypes Fanconi anemia, complementation group A, 227650 (3) for gene: FANCA
Prepair 1000+ v1.3 FAM126A Seb Lunke Added phenotypes Leukodystrophy, hypomyelinating, 5, 610532 (3) for gene: FAM126A
Prepair 1000+ v1.3 FAH Seb Lunke Added phenotypes Tyrosinemia, type I, 276700 (3) for gene: FAH
Prepair 1000+ v1.3 F2 Seb Lunke Added phenotypes Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679) for gene: F2
Prepair 1000+ v1.3 EXOSC8 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 1C, 616081 (3) for gene: EXOSC8
Prepair 1000+ v1.3 EXOSC3 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 1B, 614678 (3) for gene: EXOSC3
Prepair 1000+ v1.3 EVC2 Seb Lunke Added phenotypes Ellis-van Creveld syndrome, 225500 (3) for gene: EVC2
Prepair 1000+ v1.3 EVC Seb Lunke Added phenotypes Ellis-van Creveld syndrome, 225500 (3) for gene: EVC
Prepair 1000+ v1.3 ETHE1 Seb Lunke Added phenotypes Ethylmalonic encephalopathy, 602473 (3) for gene: ETHE1
Prepair 1000+ v1.3 ETFDH Seb Lunke Added phenotypes Glutaric acidemia IIC, 231680 (3) for gene: ETFDH
Prepair 1000+ v1.3 ETFB Seb Lunke Added phenotypes Glutaric acidemia IIB, 231680 (3) for gene: ETFB
Prepair 1000+ v1.3 ETFA Seb Lunke Added phenotypes Glutaric acidemia IIA, 231680 (3) for gene: ETFA
Prepair 1000+ v1.3 ESCO2 Seb Lunke Added phenotypes SC phocomelia syndrome, 269000 (3) for gene: ESCO2
Prepair 1000+ v1.3 ERCC8 Seb Lunke Added phenotypes Cockayne syndrome, type A, 216400 (3) for gene: ERCC8
Prepair 1000+ v1.3 ERCC6 Seb Lunke Added phenotypes Cockayne syndrome, type B, 133540 (3) for gene: ERCC6
Prepair 1000+ v1.3 ERCC5 Seb Lunke Added phenotypes Xeroderma pigmentosum, group G, 278780 (3) for gene: ERCC5
Prepair 1000+ v1.3 ERCC4 Seb Lunke Added phenotypes Fanconi anemia, complementation group Q, 615272 (3) for gene: ERCC4
Prepair 1000+ v1.3 ERCC2 Seb Lunke Added phenotypes Cerebrooculofacioskeletal syndrome 2, 610756 (3) for gene: ERCC2
Prepair 1000+ v1.3 EPG5 Seb Lunke Added phenotypes Vici syndrome, 242840 (3) for gene: EPG5
Prepair 1000+ v1.3 ENPP1 Seb Lunke Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) for gene: ENPP1
Prepair 1000+ v1.3 EMD Seb Lunke Added phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) for gene: EMD
Prepair 1000+ v1.3 ELP1 Seb Lunke Added phenotypes Dysautonomia, familial, 223900 (3) for gene: ELP1
Prepair 1000+ v1.3 EIF2B5 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B5
Prepair 1000+ v1.3 EIF2B4 Seb Lunke Added phenotypes Leukoencephaly with vanishing white matter, 603896 (3) for gene: EIF2B4
Prepair 1000+ v1.3 EIF2B3 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B3
Prepair 1000+ v1.3 EIF2B2 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B2
Prepair 1000+ v1.3 EIF2B1 Seb Lunke Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B1
Prepair 1000+ v1.3 EIF2AK3 Seb Lunke Added phenotypes Wolcott-Rallison syndrome, 226980 (3) for gene: EIF2AK3
Prepair 1000+ v1.3 EDA Seb Lunke Added phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) for gene: EDA
Prepair 1000+ v1.3 ECHS1 Seb Lunke Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3) for gene: ECHS1
Prepair 1000+ v1.3 DYSF Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2B, 253601 (3) for gene: DYSF
Prepair 1000+ v1.3 DYNC2H1 Seb Lunke Added phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) for gene: DYNC2H1
Prepair 1000+ v1.3 DYM Seb Lunke Added phenotypes Dyggve-Melchior-Clausen disease, 223800 (3) for gene: DYM
Prepair 1000+ v1.3 DOK7 Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 10, 254300 (3) for gene: DOK7
Prepair 1000+ v1.3 DOCK6 Seb Lunke Added phenotypes Adams-Oliver syndrome 2, 614219 (3) for gene: DOCK6
Prepair 1000+ v1.3 DNMT3B Seb Lunke Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3) for gene: DNMT3B
Prepair 1000+ v1.3 DNAI2 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) for gene: DNAI2
Prepair 1000+ v1.3 DNAI1 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) for gene: DNAI1
Prepair 1000+ v1.3 DNAH5 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) for gene: DNAH5
Prepair 1000+ v1.3 DNAH11 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) for gene: DNAH11
Prepair 1000+ v1.3 DMD Seb Lunke Added phenotypes Duchenne muscular dystrophy, 310200 (3) for gene: DMD
Prepair 1000+ v1.3 DLL3 Seb Lunke Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) for gene: DLL3
Prepair 1000+ v1.3 DLG3 Seb Lunke Added phenotypes Mental retardation, X-linked 90, 300850 (3) for gene: DLG3
Prepair 1000+ v1.3 DLD Seb Lunke Added phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 (3) for gene: DLD
Prepair 1000+ v1.3 DKC1 Seb Lunke Added phenotypes Dyskeratosis congenita, X-linked, 305000 (3) for gene: DKC1
Prepair 1000+ v1.3 DIS3L2 Seb Lunke Added phenotypes Perlman syndrome, 267000 (3) for gene: DIS3L2
Prepair 1000+ v1.3 DHDDS Seb Lunke Added phenotypes Retinitis pigmentosa 59, 613861 (3) for gene: DHDDS
Prepair 1000+ v1.3 DHCR7 Seb Lunke Added phenotypes Smith-Lemli-Opitz syndrome, 270400 (3) for gene: DHCR7
Prepair 1000+ v1.3 DHCR24 Seb Lunke Added phenotypes Desmosterolosis, 602398 (3) for gene: DHCR24
Prepair 1000+ v1.3 DGUOK Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) for gene: DGUOK
Prepair 1000+ v1.3 DGAT1 Seb Lunke Added phenotypes ?Diarrhea 7, protein-losing enteropathy type for gene: DGAT1
Prepair 1000+ v1.3 DDX11 Seb Lunke Added phenotypes Warsaw breakage syndrome, 613398 (3) for gene: DDX11
Prepair 1000+ v1.3 DDC Seb Lunke Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 (3) for gene: DDC
Prepair 1000+ v1.3 DCX Seb Lunke Added phenotypes Lissencephaly, X-linked, 300067 (3) for gene: DCX
Prepair 1000+ v1.3 DCLRE1C Seb Lunke Added phenotypes Severe combined immunodeficiency, Athabascan type, 602450 (3) for gene: DCLRE1C
Prepair 1000+ v1.3 DCAF17 Seb Lunke Added phenotypes Woodhouse-Sakati syndrome, 241080 (3) for gene: DCAF17
Prepair 1000+ v1.3 DBT Seb Lunke Added phenotypes Maple syrup urine disease, type II, 248600 (3) for gene: DBT
Prepair 1000+ v1.3 D2HGDH Seb Lunke Added phenotypes D-2-hydroxyglutaric aciduria, 600721 (3) for gene: D2HGDH
Prepair 1000+ v1.3 CYP7B1 Seb Lunke Added phenotypes Bile acid synthesis defect, congenital, 3, 613812 (3) for gene: CYP7B1
Prepair 1000+ v1.3 CYP27A1 Seb Lunke Added phenotypes Cerebrotendinous xanthomatosis, 213700 (3) for gene: CYP27A1
Prepair 1000+ v1.3 CYP1B1 Seb Lunke Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) for gene: CYP1B1
Prepair 1000+ v1.3 CYP17A1 Seb Lunke Added phenotypes 17,20-lyase deficiency, isolated, 202110 (3) for gene: CYP17A1
Prepair 1000+ v1.3 CYP11B2 Seb Lunke Added phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) for gene: CYP11B2
Prepair 1000+ v1.3 CYP11A1 Seb Lunke Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) for gene: CYP11A1
Prepair 1000+ v1.3 CYBB Seb Lunke Added phenotypes Chronic granulomatous disease, X-linked, 306400 (3) for gene: CYBB
Prepair 1000+ v1.3 CYBA Seb Lunke Added phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) for gene: CYBA
Prepair 1000+ v1.3 CUL4B Seb Lunke Added phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3) for gene: CUL4B
Prepair 1000+ v1.3 CTSK Seb Lunke Added phenotypes Pycnodysostosis, 265800 (3) for gene: CTSK
Prepair 1000+ v1.3 CTSD Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 (3) for gene: CTSD
Prepair 1000+ v1.3 CTSC Seb Lunke Added phenotypes Papillon-Lefevre syndrome, 245000 (3) for gene: CTSC
Prepair 1000+ v1.3 CTSA Seb Lunke Added phenotypes Galactosialidosis, 256540 (3) for gene: CTSA
Prepair 1000+ v1.3 CTNS Seb Lunke Added phenotypes Cystinosis, nephropathic, 219800 (3) for gene: CTNS
Prepair 1000+ v1.3 CSPP1 Seb Lunke Added phenotypes Joubert syndrome 21, 615636 (3) for gene: CSPP1
Prepair 1000+ v1.3 CRTAP Seb Lunke Added phenotypes Osteogenesis imperfecta, type VII, 610682 (3) for gene: CRTAP
Prepair 1000+ v1.3 CRB1 Seb Lunke Added phenotypes Leber congenital amaurosis 8, 613835 (3) for gene: CRB1
Prepair 1000+ v1.3 CPT2 Seb Lunke Added phenotypes CPT II deficiency, lethal neonatal, 608836 (3) for gene: CPT2
Prepair 1000+ v1.3 CPT1A Seb Lunke Added phenotypes CPT deficiency, hepatic, type IA, 255120 (3) for gene: CPT1A
Prepair 1000+ v1.3 CPS1 Seb Lunke Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 (3) for gene: CPS1
Prepair 1000+ v1.3 COX15 Seb Lunke Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) for gene: COX15
Prepair 1000+ v1.3 COLQ Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 5, 603034 (3) for gene: COLQ
Prepair 1000+ v1.3 COLEC11 Seb Lunke Added phenotypes 3MC syndrome 2, 265050 (3) for gene: COLEC11
Prepair 1000+ v1.3 COL7A1 Seb Lunke Added phenotypes Epidermolysis bullosa dystrophica, AR, 226600 (3) for gene: COL7A1
Prepair 1000+ v1.3 COL6A1 Seb Lunke Added phenotypes Ullrich congenital muscular dystrophy 1, 254090 (3) for gene: COL6A1
Prepair 1000+ v1.3 COL4A5 Seb Lunke Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5
Prepair 1000+ v1.3 COL4A4 Seb Lunke Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A4
Prepair 1000+ v1.3 COL4A3 Seb Lunke Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A3
Prepair 1000+ v1.3 COL27A1 Seb Lunke Added phenotypes Steel Syndrome for gene: COL27A1
Prepair 1000+ v1.3 COL18A1 Seb Lunke Added phenotypes Knobloch syndrome, type 1, 267750 (3) for gene: COL18A1
Prepair 1000+ v1.3 COL17A1 Seb Lunke Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) for gene: COL17A1
Prepair 1000+ v1.3 COL11A2 Seb Lunke Added phenotypes Fibrochondrogenesis 2, 614524 (3) for gene: COL11A2
Prepair 1000+ v1.3 CNGB3 Seb Lunke Added phenotypes Macular degeneration, juvenile, 248200 (3) for gene: CNGB3
Prepair 1000+ v1.3 CLRN1 Seb Lunke Added phenotypes Usher syndrome, type 3A, 276902 (3) for gene: CLRN1
Prepair 1000+ v1.3 CLPB Seb Lunke Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) for gene: CLPB
Prepair 1000+ v1.3 CLP1 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 10, 615803 (3) for gene: CLP1
Prepair 1000+ v1.3 CLN8 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143 (3) for gene: CLN8
Prepair 1000+ v1.3 CLN6 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal 6, 601780 (3) for gene: CLN6
Prepair 1000+ v1.3 CLN5 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 5, 256731 (3) for gene: CLN5
Prepair 1000+ v1.3 CLN3 Seb Lunke Added phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 (3) for gene: CLN3
Prepair 1000+ v1.3 CLCN7 Seb Lunke Added phenotypes Osteopetrosis, autosomal recessive 4, 611490 (3) for gene: CLCN7
Prepair 1000+ v1.3 CLCN5 Seb Lunke Added phenotypes Dent disease, 300009 (3) for gene: CLCN5
Prepair 1000+ v1.3 CKAP2L Seb Lunke Added phenotypes Filippi syndrome, 272440 (3) for gene: CKAP2L
Prepair 1000+ v1.3 CIITA Seb Lunke Added phenotypes Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) for gene: CIITA
Prepair 1000+ v1.3 CHRNG Seb Lunke Added phenotypes Escobar syndrome, 265000 (3) for gene: CHRNG
Prepair 1000+ v1.3 CHRNE Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) for gene: CHRNE
Prepair 1000+ v1.3 CHAT Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) for gene: CHAT
Prepair 1000+ v1.3 CFTR Seb Lunke Added phenotypes Cystic fibrosis, 219700 (3) for gene: CFTR
Prepair 1000+ v1.3 CEP41 Seb Lunke Added phenotypes Joubert syndrome 15, 614464 (3) for gene: CEP41
Prepair 1000+ v1.3 CEP290 Seb Lunke Added phenotypes Joubert syndrome 5, 610188 (3) for gene: CEP290
Prepair 1000+ v1.3 CEP152 Seb Lunke Added phenotypes Seckel syndrome 5, 613823 (3) for gene: CEP152
Prepair 1000+ v1.3 CENPJ Seb Lunke Added phenotypes Microcephaly 6, primary, autosomal recessive, 608393 (3) for gene: CENPJ
Prepair 1000+ v1.3 CDH23 Seb Lunke Added phenotypes Usher syndrome, type 1D, 601067 (3) for gene: CDH23
Prepair 1000+ v1.3 CD40LG Seb Lunke Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) for gene: CD40LG
Prepair 1000+ v1.3 CD40 Seb Lunke Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 (3) for gene: CD40
Prepair 1000+ v1.3 CD3D Seb Lunke Added phenotypes Immunodeficiency 19, 615617 (3) for gene: CD3D
Prepair 1000+ v1.3 CCDC88C Seb Lunke Added phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) for gene: CCDC88C
Prepair 1000+ v1.3 CCDC39 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 14, 613807 (3) for gene: CCDC39
Prepair 1000+ v1.3 CCDC103 Seb Lunke Added phenotypes Ciliary dyskinesia, primary, 17, 614679 (3) for gene: CCDC103
Prepair 1000+ v1.3 CCBE1 Seb Lunke Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) for gene: CCBE1
Prepair 1000+ v1.3 CC2D2A Seb Lunke Added phenotypes Joubert syndrome 9, 612285 (3) for gene: CC2D2A
Prepair 1000+ v1.3 CC2D1A Seb Lunke Added phenotypes Mental retardation, autosomal recessive 3, 608443 (3) for gene: CC2D1A
Prepair 1000+ v1.3 CASQ2 Seb Lunke Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) for gene: CASQ2
Prepair 1000+ v1.3 CASK Seb Lunke Added phenotypes Mental retardation, with or without nystagmus for gene: CASK
Prepair 1000+ v1.3 CAPN3 Seb Lunke Added phenotypes Muscular dystrophy, limb-girdle, type 2A, 253600 (3) for gene: CAPN3
Prepair 1000+ v1.3 CANT1 Seb Lunke Added phenotypes Desbuquois dysplasia, 251450 (3) for gene: CANT1
Prepair 1000+ v1.3 C5orf42 Seb Lunke Added phenotypes Joubert syndrome 17, 614615 (3) for gene: C5orf42
Prepair 1000+ v1.3 BTK Seb Lunke Added phenotypes Agammaglobulinemia and isolated hormone deficiency, 307200 (3) for gene: BTK
Prepair 1000+ v1.3 BSND Seb Lunke Added phenotypes Bartter syndrome, type 4a, 602522 (3) for gene: BSND
Prepair 1000+ v1.3 BRWD3 Seb Lunke Added phenotypes Mental retardation, X-linked 93, 300659 (3) for gene: BRWD3
Prepair 1000+ v1.3 BRAT1 Seb Lunke Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) for gene: BRAT1
Prepair 1000+ v1.3 BLM Seb Lunke Added phenotypes Bloom syndrome, 210900 (3) for gene: BLM
Prepair 1000+ v1.3 BCS1L Seb Lunke Added phenotypes GRACILE syndrome, 603358 (3) for gene: BCS1L
Prepair 1000+ v1.3 BCKDHB Seb Lunke Added phenotypes Maple syrup urine disease, type Ib, 248600 (3) for gene: BCKDHB
Prepair 1000+ v1.3 BCKDHA Seb Lunke Added phenotypes Maple syrup urine disease, type Ia, 248600 (3) for gene: BCKDHA
Prepair 1000+ v1.3 BBS9 Seb Lunke Added phenotypes Bardet-Biedl syndrome 9, 615986 (3) for gene: BBS9
Prepair 1000+ v1.3 BBS7 Seb Lunke Added phenotypes Bardet-Biedl syndrome 7, 615984 (3) for gene: BBS7
Prepair 1000+ v1.3 BBS5 Seb Lunke Added phenotypes Bardet-Biedl syndrome 5, 615983 (3) for gene: BBS5
Prepair 1000+ v1.3 BBS4 Seb Lunke Added phenotypes Bardet-Biedl syndrome 4, 615982 (3) for gene: BBS4
Prepair 1000+ v1.3 BBS2 Seb Lunke Added phenotypes Bardet-Biedl syndrome 2, 615981 (3) for gene: BBS2
Prepair 1000+ v1.3 BBS12 Seb Lunke Added phenotypes Bardet-Biedl syndrome 12, 615989 (3) for gene: BBS12
Prepair 1000+ v1.3 BBS10 Seb Lunke Added phenotypes Bardet-Biedl syndrome 10, 615987 (3) for gene: BBS10
Prepair 1000+ v1.3 BBS1 Seb Lunke Added phenotypes Bardet-Biedl syndrome 1, 209900 (3) for gene: BBS1
Prepair 1000+ v1.3 B3GLCT Seb Lunke Added phenotypes Peters-plus syndrome, 261540 (3) for gene: B3GLCT
Prepair 1000+ v1.3 AUH Seb Lunke Added phenotypes 3-methylglutaconic aciduria, type I, 250950 (3) for gene: AUH
Prepair 1000+ v1.3 ATRX Seb Lunke Added phenotypes Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) for gene: ATRX
Prepair 1000+ v1.3 ATR Seb Lunke Added phenotypes Seckel syndrome 1, 210600 (3) for gene: ATR
Prepair 1000+ v1.3 ATP8B1 Seb Lunke Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 (3) for gene: ATP8B1
Prepair 1000+ v1.3 ATP7B Seb Lunke Added phenotypes Wilson disease, 277900 (3) for gene: ATP7B
Prepair 1000+ v1.3 ATP7A Seb Lunke Added phenotypes Menkes disease, 309400 (3) for gene: ATP7A
Prepair 1000+ v1.3 ATP6V1B1 Seb Lunke Added phenotypes Renal tubular acidosis with deafness, 267300 (3) for gene: ATP6V1B1
Prepair 1000+ v1.3 ATM Seb Lunke Added phenotypes Ataxia-telangiectasia, 208900 (3) for gene: ATM
Prepair 1000+ v1.3 ASS1 Seb Lunke Added phenotypes Citrullinemia, 215700 (3) for gene: ASS1
Prepair 1000+ v1.3 ASPM Seb Lunke Added phenotypes Microcephaly 5, primary, autosomal recessive, 608716 (3) for gene: ASPM
Prepair 1000+ v1.3 ASPA Seb Lunke Added phenotypes Canavan disease, 271900 (3) for gene: ASPA
Prepair 1000+ v1.3 ASNS Seb Lunke Added phenotypes Asparagine synthetase deficiency, 615574 (3) for gene: ASNS
Prepair 1000+ v1.3 ASL Seb Lunke Added phenotypes Argininosuccinic aciduria, 207900 (3) for gene: ASL
Prepair 1000+ v1.3 ARX Seb Lunke Added phenotypes Hydranencephaly with abnormal genitalia, 300215 (3) for gene: ARX
Prepair 1000+ v1.3 ARSB Seb Lunke Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) for gene: ARSB
Prepair 1000+ v1.3 ARSA Seb Lunke Added phenotypes Metachromatic leukodystrophy, 250100 (3) for gene: ARSA
Prepair 1000+ v1.3 ARL6 Seb Lunke Added phenotypes Bardet-Biedl syndrome 3, 600151 (3) for gene: ARL6
Prepair 1000+ v1.3 ARL13B Seb Lunke Added phenotypes Joubert syndrome 8, 612291 (3) for gene: ARL13B
Prepair 1000+ v1.3 ARG1 Seb Lunke Added phenotypes Argininemia, 207800 (3) for gene: ARG1
Prepair 1000+ v1.3 AQP2 Seb Lunke Added phenotypes Diabetes insipidus, nephrogenic, 125800 (3) for gene: AQP2
Prepair 1000+ v1.3 AP1S2 Seb Lunke Added phenotypes Mental retardation, X-linked syndromic 5, 304340 (3) for gene: AP1S2
Prepair 1000+ v1.3 AMT Seb Lunke Added phenotypes Glycine encephalopathy, 605899 (3) for gene: AMT
Prepair 1000+ v1.3 AMPD2 Seb Lunke Added phenotypes Pontocerebellar hypoplasia, type 9, 615809 (3) for gene: AMPD2
Prepair 1000+ v1.3 ALPL Seb Lunke Added phenotypes Hypophosphatasia, infantile, 241500 (3) for gene: ALPL
Prepair 1000+ v1.3 ALMS1 Seb Lunke Added phenotypes Alstrom syndrome, 203800 (3) for gene: ALMS1
Prepair 1000+ v1.3 ALG6 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ic, 603147 (3) for gene: ALG6
Prepair 1000+ v1.3 ALG3 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Id, 601110 (3) for gene: ALG3
Prepair 1000+ v1.3 ALG1 Seb Lunke Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 (3) for gene: ALG1
Prepair 1000+ v1.3 ALDOB Seb Lunke Added phenotypes Fructose intolerance, 229600 (3) for gene: ALDOB
Prepair 1000+ v1.3 ALDH7A1 Seb Lunke Added phenotypes Epilepsy, pyridoxine-dependent, 266100 (3) for gene: ALDH7A1
Prepair 1000+ v1.3 ALDH5A1 Seb Lunke Added phenotypes Succinic semialdehyde dehydrogenase deficiency, 271980 (3) for gene: ALDH5A1
Prepair 1000+ v1.3 ALDH3A2 Seb Lunke Added phenotypes Sjogren-Larsson syndrome, 270200 (3) for gene: ALDH3A2
Prepair 1000+ v1.3 ALDH18A1 Seb Lunke Added phenotypes Spastic paraplegia 9B, autosomal recessive, 616586 (3) for gene: ALDH18A1
Prepair 1000+ v1.3 AK2 Seb Lunke Added phenotypes Reticular dysgenesis, 267500 (3) for gene: AK2
Prepair 1000+ v1.3 AIPL1 Seb Lunke Added phenotypes Cone-rod dystrophy, 604393 (3) for gene: AIPL1
Prepair 1000+ v1.3 AIFM1 Seb Lunke Added phenotypes Cowchock syndrome, 310490 (3) for gene: AIFM1
Prepair 1000+ v1.3 AHI1 Seb Lunke Added phenotypes Joubert syndrome-3, 608629 (3) for gene: AHI1
Prepair 1000+ v1.3 AGXT Seb Lunke Added phenotypes Hyperoxaluria, primary, type 1, 259900 (3) for gene: AGXT
Prepair 1000+ v1.3 AGPS Seb Lunke Added phenotypes Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) for gene: AGPS
Prepair 1000+ v1.3 AGL Seb Lunke Added phenotypes Glycogen storage disease IIIa, 232400 (3) for gene: AGL
Prepair 1000+ v1.3 AGK Seb Lunke Added phenotypes Sengers syndrome, 212350 (3) for gene: AGK
Prepair 1000+ v1.3 AGA Seb Lunke Added phenotypes Aspartylglucosaminuria, 208400 (3) for gene: AGA
Prepair 1000+ v1.3 ADSL Seb Lunke Added phenotypes Adenylosuccinase deficiency, 103050 (3) for gene: ADSL
Prepair 1000+ v1.3 ADGRV1 Seb Lunke Added phenotypes Usher syndrome, type 2C, 605472 (3) for gene: ADGRV1
Prepair 1000+ v1.3 ADGRG1 Seb Lunke Added phenotypes Polymicrogyria, bilateral frontoparietal, 606854 (3) for gene: ADGRG1
Prepair 1000+ v1.3 ADAR Seb Lunke Added phenotypes Aicardi-Goutieres syndrome 6, 615010 (3) for gene: ADAR
Prepair 1000+ v1.3 ADAMTS2 Seb Lunke Added phenotypes Ehlers-Danlos syndrome, type VIIC, 225410 (3) for gene: ADAMTS2
Prepair 1000+ v1.3 ADA Seb Lunke Added phenotypes Adenosine deaminase deficiency, partial, 102700 (3) for gene: ADA
Prepair 1000+ v1.3 ACOX1 Seb Lunke Added phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) for gene: ACOX1
Prepair 1000+ v1.3 ACAT1 Seb Lunke Added phenotypes Alpha-methylacetoacetic aciduria, 203750 (3) for gene: ACAT1
Prepair 1000+ v1.3 ACADVL Seb Lunke Added phenotypes VLCAD deficiency, 201475 (3) for gene: ACADVL
Prepair 1000+ v1.3 ACADM Seb Lunke Added phenotypes Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 for gene: ACADM
Prepair 1000+ v1.3 ACAD9 Seb Lunke Added phenotypes Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) for gene: ACAD9
Prepair 1000+ v1.3 ABCD1 Seb Lunke Added phenotypes Adrenoleukodystrophy, 300100 (3) for gene: ABCD1
Prepair 1000+ v1.3 ABCC8 Seb Lunke Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) for gene: ABCC8
Prepair 1000+ v1.3 ABCB4 Seb Lunke Added phenotypes Cholestasis, progressive familial intrahepatic 3, 602347 (3) for gene: ABCB4
Prepair 1000+ v1.3 ABCB11 Seb Lunke Added phenotypes Cholestasis, progressive familial intrahepatic 2, 601847 (3) for gene: ABCB11
Prepair 1000+ v1.3 ABCA3 Seb Lunke Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) for gene: ABCA3
Prepair 1000+ v1.3 ABCA12 Seb Lunke Added phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) for gene: ABCA12
Prepair 1000+ v1.3 AARS2 Seb Lunke Added phenotypes Combined oxidative phosphorylation deficiency 8, 614096 (3) for gene: AARS2
Prepair 1000+ v1.3 AAAS Seb Lunke Added phenotypes Achalasia-addisonianism-alacrimia syndrome, 231550 (3) for gene: AAAS
Prepair 1000+ v1.2 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to ATR-X-related syndrome MONDO:0016980
Prepair 1000+ v1.1 AMN Crystle Lee gene: AMN was added
gene: AMN was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 (MIM#618882)
Review for gene: AMN was set to AMBER
Added comment: Well established gene-disease association.

Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anaemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood.

Clinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections.
Sources: Literature
Prepair 1000+ v1.1 SCN1B Crystle Lee gene: SCN1B was added
gene: SCN1B was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: SCN1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN1B were set to 36291443; 31709768
Phenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy 52, MIM#617350
Review for gene: SCN1B was set to AMBER
Added comment: Bi-allelic variants cause EE/ID. Heterozygous variants linked to cardiac phenotypes and to GEFS+
Sources: Literature
Prepair 1000+ v1.0 AIRE Zornitza Stark changed review comment from: Highly variable phenotype in terms of severity and age of onset. Manifestations of the condition are generally treatable.; to: Highly variable phenotype in terms of severity and age of onset. Manifestations of the condition are generally treatable.
Prepair 1000+ v1.0 BRIP1 Himanshu Goel gene: BRIP1 was added
gene: BRIP1 was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 16116423
Phenotypes for gene: BRIP1 were set to Fanconi Anaemia
Penetrance for gene: BRIP1 were set to Complete
Mode of pathogenicity for gene: BRIP1 was set to Other
Review for gene: BRIP1 was set to GREEN
gene: BRIP1 was marked as current diagnostic
Added comment: Sources: Literature
Prepair 1000+ v1.0 NLGN4X Zornitza Stark reviewed gene: NLGN4X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.0 Zornitza Stark promoted panel to version 1.0
Prepair 1000+ v0.200 TAT Zornitza Stark Marked gene: TAT as ready
Prepair 1000+ v0.200 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Prepair 1000+ v0.200 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Prepair 1000+ v0.200 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Prepair 1000+ v0.199 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services
Prepair 1000+ v0.198 BTD Zornitza Stark Classified gene: BTD as Amber List (moderate evidence)
Prepair 1000+ v0.198 BTD Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.197 BTD Zornitza Stark changed review comment from: Variable severity, but treatable disorder.; to: Variable severity, but treatable disorder. Difficult to predict phenotype from genotype.
Prepair 1000+ v0.197 BTD Zornitza Stark edited their review of gene: BTD: Changed rating: AMBER
Prepair 1000+ v0.197 Zornitza Stark Panel status changed from internal to public
Prepair 1000+ v0.196 BTD Zornitza Stark Classified gene: BTD as Green List (high evidence)
Prepair 1000+ v0.196 BTD Zornitza Stark Gene: btd has been classified as Green List (High Evidence).
Prepair 1000+ v0.195 BTD Zornitza Stark Tag for review was removed from gene: BTD.
Prepair 1000+ v0.195 BTD Zornitza Stark changed review comment from: Variable severity, but treatable disorder. Consider genotype-phenotype correlation before final decision.; to: Variable severity, but treatable disorder.
Prepair 1000+ v0.195 BTD Zornitza Stark edited their review of gene: BTD: Changed rating: GREEN
Prepair 1000+ v0.195 PCDH19 Zornitza Stark Marked gene: PCDH19 as ready
Prepair 1000+ v0.195 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Prepair 1000+ v0.195 PCDH19 Zornitza Stark Mode of inheritance for gene: PCDH19 was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 1000+ v0.194 PCDH19 Zornitza Stark Classified gene: PCDH19 as Green List (high evidence)
Prepair 1000+ v0.194 PCDH19 Zornitza Stark Gene: pcdh19 has been classified as Green List (High Evidence).
Prepair 1000+ v0.193 PCDH19 Zornitza Stark reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 9 (MIM#300088); 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+ v0.193 RS1 Zornitza Stark Tag for review was removed from gene: RS1.
Prepair 1000+ v0.193 OAT Zornitza Stark Tag for review was removed from gene: OAT.
Prepair 1000+ v0.193 NR2E3 Zornitza Stark Tag for review was removed from gene: NR2E3.
Prepair 1000+ v0.193 TAT Zornitza Stark Tag for review was removed from gene: TAT.
Prepair 1000+ v0.193 TAT Zornitza Stark edited their review of gene: TAT: Changed rating: GREEN
Prepair 1000+ v0.193 GP1BA Zornitza Stark Marked gene: GP1BA as ready
Prepair 1000+ v0.193 GP1BA Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence).
Prepair 1000+ v0.193 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Prepair 1000+ v0.193 HBA1 Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.193 HBA1 Zornitza Stark Classified gene: HBA1 as Red List (low evidence)
Prepair 1000+ v0.193 HBA1 Zornitza Stark Gene: hba1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.192 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Prepair 1000+ v0.192 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.192 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.191 HBA2 Zornitza Stark Classified gene: HBA2 as Red List (low evidence)
Prepair 1000+ v0.191 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.190 GP1BA Zornitza Stark Classified gene: GP1BA as Red List (low evidence)
Prepair 1000+ v0.190 GP1BA Zornitza Stark Gene: gp1ba has been classified as Red List (Low Evidence).
Prepair 1000+ v0.189 GP1BA Zornitza Stark Tag for review was removed from gene: GP1BA.
Prepair 1000+ v0.189 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Prepair 1000+ v0.189 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.189 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Prepair 1000+ v0.189 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.189 GP9 Zornitza Stark Marked gene: GP9 as ready
Prepair 1000+ v0.189 GP9 Zornitza Stark Gene: gp9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.189 GP9 Zornitza Stark Classified gene: GP9 as Red List (low evidence)
Prepair 1000+ v0.189 GP9 Zornitza Stark Gene: gp9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.188 GP9 Zornitza Stark Tag for review was removed from gene: GP9.
Prepair 1000+ v0.188 GP9 Zornitza Stark reviewed gene: GP9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type C (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.188 GP1BA Zornitza Stark reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.188 GJB1 Zornitza Stark Marked gene: GJB1 as ready
Prepair 1000+ v0.188 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.188 F11 Zornitza Stark Marked gene: F11 as ready
Prepair 1000+ v0.188 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.188 GJB1 Zornitza Stark Mode of inheritance for gene: GJB1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.187 GJB1 Zornitza Stark Classified gene: GJB1 as Green List (high evidence)
Prepair 1000+ v0.187 GJB1 Zornitza Stark Gene: gjb1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.186 F11 Zornitza Stark Phenotypes for gene: F11 were changed from Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416) to Factor XI deficiency, autosomal recessive, (MIM#612416)
Prepair 1000+ v0.185 GJB1 Zornitza Stark Tag for review was removed from gene: GJB1.
Prepair 1000+ v0.185 GJB1 Zornitza Stark edited their review of gene: GJB1: Added comment: Childhood onset, motor disability can be severe.; Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.185 F11 Zornitza Stark Classified gene: F11 as Red List (low evidence)
Prepair 1000+ v0.185 F11 Zornitza Stark Gene: f11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.184 F11 Zornitza Stark Tag for review was removed from gene: F11.
Prepair 1000+ v0.184 F11 Zornitza Stark reviewed gene: F11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XI deficiency, autosomal recessive, (MIM#612416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.184 Zornitza Stark removed gene:CYP19A1 from the panel
Prepair 1000+ v0.183 GRHPR Zornitza Stark Tag for review was removed from gene: GRHPR.
Prepair 1000+ v0.183 Zornitza Stark removed gene:CYP11B1 from the panel
Prepair 1000+ v0.182 IGHM Zornitza Stark Classified gene: IGHM as Amber List (moderate evidence)
Prepair 1000+ v0.182 IGHM Zornitza Stark Gene: ighm has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.181 IGHM Zornitza Stark changed review comment from: Workaround in place to detect variants in this gene.; to: Workaround possible to detect variants in this gene. However, residual risk of false negative results.
Prepair 1000+ v0.181 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: AMBER
Prepair 1000+ v0.181 F9 Zornitza Stark Marked gene: F9 as ready
Prepair 1000+ v0.181 F9 Zornitza Stark Gene: f9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.181 F9 Zornitza Stark Classified gene: F9 as Red List (low evidence)
Prepair 1000+ v0.181 F9 Zornitza Stark Gene: f9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.180 F9 Zornitza Stark Tag for review was removed from gene: F9.
Prepair 1000+ v0.180 IGHM Zornitza Stark Tag for review was removed from gene: IGHM.
Prepair 1000+ v0.180 F9 Zornitza Stark reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.180 F5 Zornitza Stark Marked gene: F5 as ready
Prepair 1000+ v0.180 F5 Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.180 F5 Zornitza Stark Classified gene: F5 as Amber List (moderate evidence)
Prepair 1000+ v0.180 F5 Zornitza Stark Gene: f5 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.179 F5 Zornitza Stark Tag for review was removed from gene: F5.
Prepair 1000+ v0.179 F5 Zornitza Stark reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.179 F2 Zornitza Stark Marked gene: F2 as ready
Prepair 1000+ v0.179 F2 Zornitza Stark Gene: f2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.179 F2 Zornitza Stark Phenotypes for gene: F2 were changed from Dysprothrombinemia, 613679 (3) to Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679)
Prepair 1000+ v0.178 F2 Zornitza Stark Tag for review was removed from gene: F2.
Prepair 1000+ v0.178 F2 Zornitza Stark reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoprothrombinaemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.178 RPGR Zornitza Stark Marked gene: RPGR as ready
Prepair 1000+ v0.178 RPGR Zornitza Stark Gene: rpgr has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.178 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from Macular degeneration, X-linked atrophic, 300834 (3) to Retinitis pigmentosa 3 (MIM#300029)
Prepair 1000+ v0.177 RPGR Zornitza Stark Publications for gene: RPGR were set to
Prepair 1000+ v0.176 RPGR Zornitza Stark Classified gene: RPGR as Amber List (moderate evidence)
Prepair 1000+ v0.176 RPGR Zornitza Stark Gene: rpgr has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.175 RPGR Zornitza Stark Tag for review was removed from gene: RPGR.
Prepair 1000+ v0.175 HYDIN Zornitza Stark Marked gene: HYDIN as ready
Prepair 1000+ v0.175 HYDIN Zornitza Stark Gene: hydin has been classified as Green List (High Evidence).
Prepair 1000+ v0.175 GBA Zornitza Stark Marked gene: GBA as ready
Prepair 1000+ v0.175 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.175 GBA Zornitza Stark Publications for gene: GBA were set to
Prepair 1000+ v0.174 GBA Zornitza Stark Classified gene: GBA as Amber List (moderate evidence)
Prepair 1000+ v0.174 GBA Zornitza Stark Gene: gba has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.173 GBA Zornitza Stark Tag for review was removed from gene: GBA.
Prepair 1000+ v0.173 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Prepair 1000+ v0.173 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.173 NCF1 Zornitza Stark Phenotypes for gene: NCF1 were changed from Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3) to Chronic granulomatous disease 1, autosomal recessive (MIM#233700)
Prepair 1000+ v0.172 NCF1 Zornitza Stark Publications for gene: NCF1 were set to
Prepair 1000+ v0.171 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Prepair 1000+ v0.171 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.170 NCF1 Zornitza Stark Tag for review was removed from gene: NCF1.
Prepair 1000+ v0.170 HYDIN Zornitza Stark Publications for gene: HYDIN were set to
Prepair 1000+ v0.169 HYDIN Zornitza Stark Tag for review was removed from gene: HYDIN.
Prepair 1000+ v0.169 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Prepair 1000+ v0.169 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.169 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from Mental retardation, autosomal recessive 38, 615516 (3) to Intellectual developmental disorder, autosomal recessive 38 (MIM#615516)
Prepair 1000+ v0.168 HERC2 Zornitza Stark Tag for review was removed from gene: HERC2.
Prepair 1000+ v0.168 RPGR Crystle Lee changed review comment from: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209; to: Gene is mostly well covered however is missing critical region (ORF15) - ChrX:38286208-38286209
Prepair 1000+ v0.168 RPGR Crystle Lee commented on gene: RPGR: Gene is mostly well covered however is missing critical region (ORG15) which accounts for up to 50% of cases. - ChrX:38286208-38286209
Prepair 1000+ v0.168 GBA Crystle Lee commented on gene: GBA: Most common pathogenic variant Asn409Ser detectable. Technically challenging to accurately detect the 2nd most common pathogenic variant, Leu483Pro
Prepair 1000+ v0.168 NCF1 Crystle Lee commented on gene: NCF1: 5 out of 11 exons in the gene does not map accurately (exon 1, 5, 8, 9, 11)
Prepair 1000+ v0.168 HYDIN Crystle Lee edited their review of gene: HYDIN: Added comment: Mapping issues reviewed: Gene is mostly well covered. Insufficient evidence to exclude on technical ground.; Changed rating: GREEN
Prepair 1000+ v0.168 HERC2 Crystle Lee edited their review of gene: HERC2: Added comment: Mapping issues reviewed: Majority of exons in this gene are well covered and there is no evidence of any recurrent variants. Insufficient mapping issues to exclude gene.

Note: most SNVs reported as VUS. Lots of multigenic CNVs reported.; Changed rating: GREEN
Prepair 1000+ v0.167 VPS13A Zornitza Stark Marked gene: VPS13A as ready
Prepair 1000+ v0.167 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.167 VPS13A Zornitza Stark Publications for gene: VPS13A were set to
Prepair 1000+ v0.166 VPS13A Zornitza Stark Classified gene: VPS13A as Red List (low evidence)
Prepair 1000+ v0.166 VPS13A Zornitza Stark Gene: vps13a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.165 VPS13A Zornitza Stark Tag for review was removed from gene: VPS13A.
Prepair 1000+ v0.165 VPS13A Zornitza Stark changed review comment from: Appears to be adult onset disorder. For further review.; to: Appears to be adult onset disorder.
Prepair 1000+ v0.165 VPS13A Zornitza Stark edited their review of gene: VPS13A: Changed rating: RED
Prepair 1000+ v0.165 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Prepair 1000+ v0.164 RYR1 Zornitza Stark Tag for review was removed from gene: RYR1.
Prepair 1000+ v0.164 RYR1 Zornitza Stark commented on gene: RYR1: Hard to predict outcome in a screening context. However, multiple reports of severe perinatal outcomes.
Prepair 1000+ v0.164 TFR2 Zornitza Stark Marked gene: TFR2 as ready
Prepair 1000+ v0.164 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.164 TFR2 Zornitza Stark Phenotypes for gene: TFR2 were changed from Hemochromatosis, type 3, MIM#604250 to Haemochromatosis, type 3, MIM#604250
Prepair 1000+ v0.163 TFR2 Zornitza Stark Classified gene: TFR2 as Red List (low evidence)
Prepair 1000+ v0.163 TFR2 Zornitza Stark Gene: tfr2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.162 TFR2 Zornitza Stark Tag for review was removed from gene: TFR2.
Prepair 1000+ v0.162 TFR2 Zornitza Stark reviewed gene: TFR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, type 3, MIM#604250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.162 TAT Zornitza Stark reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.162 PYGM Zornitza Stark Marked gene: PYGM as ready
Prepair 1000+ v0.162 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Prepair 1000+ v0.162 SLC12A3 Zornitza Stark Marked gene: SLC12A3 as ready
Prepair 1000+ v0.162 SLC12A3 Zornitza Stark Gene: slc12a3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.162 PYGM Zornitza Stark Classified gene: PYGM as Red List (low evidence)
Prepair 1000+ v0.162 PYGM Zornitza Stark Gene: pygm has been classified as Red List (Low Evidence).
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.161 PYGM Zornitza Stark Tag for review was removed from gene: PYGM.
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Classified gene: SLC4A11 as Red List (low evidence)
Prepair 1000+ v0.161 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.160 SLC4A11 Zornitza Stark Tag for review was removed from gene: SLC4A11.
Prepair 1000+ v0.160 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.160 OAT Zornitza Stark Marked gene: OAT as ready
Prepair 1000+ v0.160 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Prepair 1000+ v0.160 SLC12A3 Zornitza Stark Classified gene: SLC12A3 as Red List (low evidence)
Prepair 1000+ v0.160 SLC12A3 Zornitza Stark Gene: slc12a3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.159 SLC12A3 Zornitza Stark Tag for review was removed from gene: SLC12A3.
Prepair 1000+ v0.159 SLC12A3 Zornitza Stark reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM#263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.159 RS1 Zornitza Stark Marked gene: RS1 as ready
Prepair 1000+ v0.159 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.159 OAT Zornitza Stark Classified gene: OAT as Red List (low evidence)
Prepair 1000+ v0.159 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Prepair 1000+ v0.158 RS1 Zornitza Stark Classified gene: RS1 as Red List (low evidence)
Prepair 1000+ v0.158 RS1 Zornitza Stark Gene: rs1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.157 RS1 Zornitza Stark reviewed gene: RS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinoschisis (MIM#312700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Marked gene: NR2E3 as ready
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.157 PYGM Zornitza Stark reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: McArdle disease (MIM#232600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.157 OAT Zornitza Stark reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia, MIM# 258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Classified gene: NR2E3 as Red List (low evidence)
Prepair 1000+ v0.157 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.156 NR2E3 Zornitza Stark reviewed gene: NR2E3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.156 Zornitza Stark Panel name changed from Reproductive Carrier Screen_VCGS to Prepair 1000+
Prepair 1000+ v0.155 RPGR Zornitza Stark Tag for review tag was added to gene: RPGR.
Prepair 1000+ v0.155 RPGR Crystle Lee reviewed gene: RPGR: Rating: AMBER; Mode of pathogenicity: None; Publications: 12657579, 30193314; Phenotypes: Retinitis pigmentosa 3 (MIM#300029); 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+ v0.155 RYR1 Lilian Downie reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.155 MEFV Zornitza Stark Marked gene: MEFV as ready
Prepair 1000+ v0.155 MEFV Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence).
Prepair 1000+ v0.155 MEFV Zornitza Stark Mode of inheritance for gene: MEFV was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.154 MEFV Zornitza Stark Classified gene: MEFV as Red List (low evidence)
Prepair 1000+ v0.154 MEFV Zornitza Stark Gene: mefv has been classified as Red List (Low Evidence).
Prepair 1000+ v0.153 MEFV Zornitza Stark Tag for review was removed from gene: MEFV.
Prepair 1000+ v0.153 MEFV Zornitza Stark reviewed gene: MEFV: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever, AR (MIM#249100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Marked gene: HOGA1 as ready
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Classified gene: HOGA1 as Red List (low evidence)
Prepair 1000+ v0.153 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.152 HOGA1 Zornitza Stark Tag for review was removed from gene: HOGA1.
Prepair 1000+ v0.152 HOGA1 Zornitza Stark reviewed gene: HOGA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type III (MIM#613616); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.152 GRHPR Zornitza Stark Marked gene: GRHPR as ready
Prepair 1000+ v0.152 GRHPR Zornitza Stark Gene: grhpr has been classified as Red List (Low Evidence).
Prepair 1000+ v0.152 GRHPR Zornitza Stark Classified gene: GRHPR as Red List (low evidence)
Prepair 1000+ v0.152 GRHPR Zornitza Stark Gene: grhpr has been classified as Red List (Low Evidence).
Prepair 1000+ v0.151 GRHPR Zornitza Stark reviewed gene: GRHPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperoxaluria, primary, type II (MIM#260000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.151 GJB1 Zornitza Stark commented on gene: GJB1
Prepair 1000+ v0.151 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Prepair 1000+ v0.151 GALK1 Zornitza Stark Gene: galk1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.151 GALK1 Zornitza Stark Classified gene: GALK1 as Red List (low evidence)
Prepair 1000+ v0.151 GALK1 Zornitza Stark Gene: galk1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.150 GALK1 Zornitza Stark Tag for review was removed from gene: GALK1.
Prepair 1000+ v0.150 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts (MIM#230200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.150 G6PD Zornitza Stark Marked gene: G6PD as ready
Prepair 1000+ v0.150 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.150 G6PD Zornitza Stark Phenotypes for gene: G6PD were changed from Hemolytic anemia, G6PD deficient (favism) (MIM#300908) to Haemolytic anaemia, G6PD deficient (favism) (MIM#300908)
Prepair 1000+ v0.149 G6PD Zornitza Stark Mode of inheritance for gene: G6PD was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.148 G6PD Zornitza Stark Classified gene: G6PD as Red List (low evidence)
Prepair 1000+ v0.148 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.147 G6PD Zornitza Stark Tag for review was removed from gene: G6PD.
Prepair 1000+ v0.147 G6PD Zornitza Stark reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemolytic anaemia, G6PD deficient (favism) (MIM#300908); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.147 EYS Zornitza Stark Marked gene: EYS as ready
Prepair 1000+ v0.147 EYS Zornitza Stark Gene: eys has been classified as Red List (Low Evidence).
Prepair 1000+ v0.147 EYS Zornitza Stark Classified gene: EYS as Red List (low evidence)
Prepair 1000+ v0.147 EYS Zornitza Stark Gene: eys has been classified as Red List (Low Evidence).
Prepair 1000+ v0.146 EYS Zornitza Stark Tag for review was removed from gene: EYS.
Prepair 1000+ v0.146 EYS Zornitza Stark reviewed gene: EYS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 25 (MIM#602772); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Red List (low evidence)
Prepair 1000+ v0.146 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.145 CYP21A2 Zornitza Stark Tag for review was removed from gene: CYP21A2.
Prepair 1000+ v0.145 CYP21A2 Zornitza Stark reviewed gene: CYP21A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Classified gene: CYP11B1 as Amber List (moderate evidence)
Prepair 1000+ v0.145 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.144 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (MIM#202010); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.144 CERKL Zornitza Stark Marked gene: CERKL as ready
Prepair 1000+ v0.144 CERKL Zornitza Stark Gene: cerkl has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.144 CERKL Zornitza Stark Classified gene: CERKL as Amber List (moderate evidence)
Prepair 1000+ v0.144 CERKL Zornitza Stark Gene: cerkl has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.143 CERKL Zornitza Stark Tag for review was removed from gene: CERKL.
Prepair 1000+ v0.143 CERKL Zornitza Stark reviewed gene: CERKL: Rating: AMBER; Mode of pathogenicity: None; Publications: 33322828; Phenotypes: Retinitis pigmentosa 26 (MIM#608380); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.143 BTD Zornitza Stark Marked gene: BTD as ready
Prepair 1000+ v0.143 BTD Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.143 BTD Zornitza Stark Classified gene: BTD as Amber List (moderate evidence)
Prepair 1000+ v0.143 BTD Zornitza Stark Gene: btd has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.142 BTD Zornitza Stark reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency (MIM#253260); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.142 AIRE Zornitza Stark Marked gene: AIRE as ready
Prepair 1000+ v0.142 AIRE Zornitza Stark Gene: aire has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.142 AIRE Zornitza Stark Publications for gene: AIRE were set to 35521792; 28323927
Prepair 1000+ v0.141 AIRE Zornitza Stark Classified gene: AIRE as Amber List (moderate evidence)
Prepair 1000+ v0.141 AIRE Zornitza Stark Gene: aire has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.140 AIRE Zornitza Stark Tag for review was removed from gene: AIRE.
Prepair 1000+ v0.140 AIRE Zornitza Stark reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.140 C8B Zornitza Stark Tag for review was removed from gene: C8B.
Prepair 1000+ v0.140 TRAC Zornitza Stark Marked gene: TRAC as ready
Prepair 1000+ v0.140 TRAC Zornitza Stark Gene: trac has been classified as Red List (Low Evidence).
Prepair 1000+ v0.140 TRAC Zornitza Stark Tag for review was removed from gene: TRAC.
Prepair 1000+ v0.140 RPL10 Zornitza Stark Tag for review was removed from gene: RPL10.
Prepair 1000+ v0.140 RPL10 Zornitza Stark Marked gene: RPL10 as ready
Prepair 1000+ v0.140 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Prepair 1000+ v0.140 RPL10 Zornitza Stark Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 (MIM#300998) to Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998
Prepair 1000+ v0.139 RPL10 Zornitza Stark Publications for gene: RPL10 were set to
Prepair 1000+ v0.138 TRAC Zornitza Stark Classified gene: TRAC as Red List (low evidence)
Prepair 1000+ v0.138 TRAC Zornitza Stark Gene: trac has been classified as Red List (Low Evidence).
Prepair 1000+ v0.137 TRAC Zornitza Stark 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+ v0.137 RPL10 Zornitza Stark Classified gene: RPL10 as Green List (high evidence)
Prepair 1000+ v0.137 RPL10 Zornitza Stark Gene: rpl10 has been classified as Green List (High Evidence).
Prepair 1000+ v0.136 RPL10 Zornitza Stark reviewed gene: RPL10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.136 AIRE Crystle Lee edited their review of gene: AIRE: Changed publications: 35521792, 28323927, 33352647
Prepair 1000+ v0.136 VPS13A Zornitza Stark reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29518281; Phenotypes: Choreoacanthocytosis (MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.136 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Prepair 1000+ v0.136 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.136 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Minicore myopathy with external ophthalmoplegia, 255320 (3) to Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000
Prepair 1000+ v0.135 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000, Central core disease, MIM# 117000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PROC Zornitza Stark Marked gene: PROC as ready
Prepair 1000+ v0.135 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PROC Zornitza Stark Tag for review was removed from gene: PROC.
Prepair 1000+ v0.135 PROC Zornitza Stark reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PRKRA Zornitza Stark changed review comment from: Founder variant but multiple other families reported.

Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection.; to: Founder variant but multiple other families reported.

Pseudogene is a processed pseudogene and therefore false positives can be identified on manual inspection. Risk of false negatives is low.
Prepair 1000+ v0.135 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Prepair 1000+ v0.135 PRKRA Zornitza Stark Gene: prkra has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PRKRA Zornitza Stark Tag for review was removed from gene: PRKRA.
Prepair 1000+ v0.135 PRKRA Zornitza Stark reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.135 PGK1 Zornitza Stark Marked gene: PGK1 as ready
Prepair 1000+ v0.135 PGK1 Zornitza Stark Gene: pgk1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PLG Zornitza Stark Marked gene: PLG as ready
Prepair 1000+ v0.135 PLG Zornitza Stark Gene: plg has been classified as Green List (High Evidence).
Prepair 1000+ v0.135 PLG Zornitza Stark Publications for gene: PLG were set to
Prepair 1000+ v0.134 PLG Zornitza Stark Tag for review was removed from gene: PLG.
Prepair 1000+ v0.134 PLG Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.134 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Prepair 1000+ v0.134 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.134 PGK1 Zornitza Stark Publications for gene: PGK1 were set to
Prepair 1000+ v0.133 PGK1 Zornitza Stark Tag for review was removed from gene: PGK1.
Prepair 1000+ v0.133 PGK1 Zornitza Stark reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.133 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency to Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)
Prepair 1000+ v0.132 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Prepair 1000+ v0.131 PDHA1 Zornitza Stark Tag for review was removed from gene: PDHA1.
Prepair 1000+ v0.131 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.131 KCNQ1 Zornitza Stark Tag for review was removed from gene: KCNQ1.
Prepair 1000+ v0.131 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Prepair 1000+ v0.131 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.131 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, brown oculocutaneous, 203200 (3) to Albinism, oculocutaneous, type II (MIM#203200)
Prepair 1000+ v0.130 OCA2 Zornitza Stark Classified gene: OCA2 as Red List (low evidence)
Prepair 1000+ v0.130 OCA2 Zornitza Stark Gene: oca2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.129 OCA2 Zornitza Stark Tag for review was removed from gene: OCA2.
Prepair 1000+ v0.129 OCA2 Zornitza Stark reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.129 NEB Zornitza Stark Marked gene: NEB as ready
Prepair 1000+ v0.129 NEB Zornitza Stark Gene: neb has been classified as Green List (High Evidence).
Prepair 1000+ v0.129 NEB Zornitza Stark Phenotypes for gene: NEB were changed from Nemaline myopathy 2, autosomal recessive, 256030 (3) to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030)
Prepair 1000+ v0.128 NEB Zornitza Stark Publications for gene: NEB were set to
Prepair 1000+ v0.127 MPZ Zornitza Stark Marked gene: MPZ as ready
Prepair 1000+ v0.127 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Prepair 1000+ v0.127 MPZ Zornitza Stark Publications for gene: MPZ were set to
Prepair 1000+ v0.126 MPZ Zornitza Stark Tag for review was removed from gene: MPZ.
Prepair 1000+ v0.126 NEB Zornitza Stark Tag for review was removed from gene: NEB.
Prepair 1000+ v0.126 NEB Zornitza Stark reviewed gene: NEB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 LDLR Zornitza Stark Marked gene: LDLR as ready
Prepair 1000+ v0.126 LDLR Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence).
Prepair 1000+ v0.126 MPZ Zornitza Stark changed review comment from: More than 3 families reported with biallelic variants.; to: More than 3 families reported with biallelic variants. Childhood/congenital onset.
Prepair 1000+ v0.126 MPZ Zornitza Stark reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dejerine-Sottas disease, MIM#145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 LDLR Zornitza Stark Tag for review was removed from gene: LDLR.
Prepair 1000+ v0.126 LDLR Zornitza Stark reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 1 143890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.126 IGHM Zornitza Stark Marked gene: IGHM as ready
Prepair 1000+ v0.126 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Prepair 1000+ v0.126 KCNQ1 Zornitza Stark Marked gene: KCNQ1 as ready
Prepair 1000+ v0.126 KCNQ1 Zornitza Stark Gene: kcnq1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.126 IGHM Zornitza Stark Phenotypes for gene: IGHM were changed from Agammaglobulinemia 1, 601495 (3) to Agammaglobulinaemia 1, 601495 (3)
Prepair 1000+ v0.125 IGHM Zornitza Stark Publications for gene: IGHM were set to
Prepair 1000+ v0.124 KCNQ1 Zornitza Stark Publications for gene: KCNQ1 were set to
Prepair 1000+ v0.123 KCNQ1 Zornitza Stark reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.123 IGHM Zornitza Stark reviewed gene: IGHM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.123 GYS2 Zornitza Stark Marked gene: GYS2 as ready
Prepair 1000+ v0.123 GYS2 Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.123 GYS2 Zornitza Stark Publications for gene: GYS2 were set to
Prepair 1000+ v0.122 GYS2 Zornitza Stark Classified gene: GYS2 as Red List (low evidence)
Prepair 1000+ v0.122 GYS2 Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.121 GYS2 Zornitza Stark Tag for review was removed from gene: GYS2.
Prepair 1000+ v0.121 GYS2 Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.121 GK Zornitza Stark edited their review of gene: GK: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.121 GK Zornitza Stark Marked gene: GK as ready
Prepair 1000+ v0.121 GK Zornitza Stark Gene: gk has been classified as Red List (Low Evidence).
Prepair 1000+ v0.121 GK Zornitza Stark Publications for gene: GK were set to
Prepair 1000+ v0.120 GK Zornitza Stark Classified gene: GK as Red List (low evidence)
Prepair 1000+ v0.120 GK Zornitza Stark Gene: gk has been classified as Red List (Low Evidence).
Prepair 1000+ v0.119 GK Zornitza Stark Tag for review was removed from gene: GK.
Prepair 1000+ v0.119 GK Zornitza Stark edited their review of gene: GK: Changed rating: RED; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.119 GK Zornitza Stark reviewed gene: GK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency (MIM#307030); Mode of inheritance: None
Prepair 1000+ v0.119 PCDH19 Crystle Lee gene: PCDH19 was added
gene: PCDH19 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: PCDH19 was set to Other
Publications for gene: PCDH19 were set to 18469813; 30287595
Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)
Review for gene: PCDH19 was set to AMBER
Added comment: XLD. Affects heterozygous females, hemizygous males are mainly unaffected
> 3 unrelated families with phenotype, > 3 de novo mutation carriers with phenotype
Evidence of mosaicism and incomplete penetrance
Sources: Literature
Prepair 1000+ v0.119 FTCD Zornitza Stark Marked gene: FTCD as ready
Prepair 1000+ v0.119 FTCD Zornitza Stark Gene: ftcd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.119 FTCD Zornitza Stark Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency, 229100 (3) to Glutamate formiminotransferase deficiency (MIM#229100)
Prepair 1000+ v0.118 FTCD Zornitza Stark Classified gene: FTCD as Red List (low evidence)
Prepair 1000+ v0.118 FTCD Zornitza Stark Gene: ftcd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.117 FTCD Zornitza Stark Tag for review was removed from gene: FTCD.
Prepair 1000+ v0.117 FTCD Zornitza Stark reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: 29178637, 30740726; Phenotypes: Glutamate formiminotransferase deficiency (MIM#229100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.117 EFNB1 Zornitza Stark Marked gene: EFNB1 as ready
Prepair 1000+ v0.117 EFNB1 Zornitza Stark Gene: efnb1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.117 EFNB1 Zornitza Stark Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia, 304110 (3) to Craniofrontonasal dysplasia (MIM#304110)
Prepair 1000+ v0.116 EFNB1 Zornitza Stark Tag for review was removed from gene: EFNB1.
Prepair 1000+ v0.116 EFNB1 Zornitza Stark reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.116 CNGA3 Zornitza Stark Marked gene: CNGA3 as ready
Prepair 1000+ v0.116 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.116 CNGA3 Zornitza Stark Publications for gene: CNGA3 were set to
Prepair 1000+ v0.115 CNGA3 Zornitza Stark Classified gene: CNGA3 as Amber List (moderate evidence)
Prepair 1000+ v0.115 CNGA3 Zornitza Stark Gene: cnga3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.114 CNGA3 Zornitza Stark Tag for review was removed from gene: CNGA3.
Prepair 1000+ v0.114 CNGA3 Zornitza Stark reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 2 (MIM#216900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.114 CHM Zornitza Stark Marked gene: CHM as ready
Prepair 1000+ v0.114 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Prepair 1000+ v0.114 CHM Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia (MIM#303100)
Prepair 1000+ v0.113 CHM Zornitza Stark Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia
Prepair 1000+ v0.112 CHM Zornitza Stark Publications for gene: CHM were set to 33110609; 27820636
Prepair 1000+ v0.112 CHM Zornitza Stark Publications for gene: CHM were set to
Prepair 1000+ v0.111 CHM Zornitza Stark Classified gene: CHM as Red List (low evidence)
Prepair 1000+ v0.111 CHM Zornitza Stark Gene: chm has been classified as Red List (Low Evidence).
Prepair 1000+ v0.110 CHM Zornitza Stark Tag for review was removed from gene: CHM.
Prepair 1000+ v0.110 CHM Zornitza Stark reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.110 CASQ2 Zornitza Stark Marked gene: CASQ2 as ready
Prepair 1000+ v0.110 CASQ2 Zornitza Stark Gene: casq2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.110 CASQ2 Zornitza Stark Publications for gene: CASQ2 were set to
Prepair 1000+ v0.109 CASQ2 Zornitza Stark Tag for review was removed from gene: CASQ2.
Prepair 1000+ v0.109 CASQ2 Zornitza Stark reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.109 CARD9 Zornitza Stark Marked gene: CARD9 as ready
Prepair 1000+ v0.109 CARD9 Zornitza Stark Gene: card9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.109 CARD9 Zornitza Stark Phenotypes for gene: CARD9 were changed from Candidiasis, familial, 2, autosomal recessive, 212050 (3) to Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050
Prepair 1000+ v0.108 CARD9 Zornitza Stark Publications for gene: CARD9 were set to
Prepair 1000+ v0.107 CARD9 Zornitza Stark Classified gene: CARD9 as Red List (low evidence)
Prepair 1000+ v0.107 CARD9 Zornitza Stark Gene: card9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.106 CARD9 Zornitza Stark Tag for review was removed from gene: CARD9.
Prepair 1000+ v0.106 CARD9 Zornitza Stark reviewed gene: CARD9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.106 C8B Alison Yeung Marked gene: C8B as ready
Prepair 1000+ v0.106 C8B Alison Yeung Gene: c8b has been classified as Red List (Low Evidence).
Prepair 1000+ v0.106 C8B Alison Yeung Classified gene: C8B as Red List (low evidence)
Prepair 1000+ v0.106 C8B Alison Yeung Added comment: Comment on list classification: susceptibility to infection - not suitable for reproductive screening panel
Prepair 1000+ v0.106 C8B Alison Yeung Gene: c8b has been classified as Red List (Low Evidence).
Prepair 1000+ v0.105 C8B Alison Yeung Phenotypes for gene: C8B were changed from C8 deficiency, type II, 613789 (3) to C8 deficiency, type II (MIM#613789)
Prepair 1000+ v0.104 C8B Alison Yeung Publications for gene: C8B were set to
Prepair 1000+ v0.103 C7 Zornitza Stark Marked gene: C7 as ready
Prepair 1000+ v0.103 C7 Zornitza Stark Gene: c7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.103 C7 Zornitza Stark Publications for gene: C7 were set to
Prepair 1000+ v0.102 C7 Zornitza Stark Classified gene: C7 as Red List (low evidence)
Prepair 1000+ v0.102 C7 Zornitza Stark Gene: c7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.101 C6 Zornitza Stark Marked gene: C6 as ready
Prepair 1000+ v0.101 C6 Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.101 C6 Zornitza Stark Publications for gene: C6 were set to
Prepair 1000+ v0.100 C6 Zornitza Stark Classified gene: C6 as Red List (low evidence)
Prepair 1000+ v0.100 C6 Zornitza Stark Gene: c6 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.99 C6 Zornitza Stark Tag for review was removed from gene: C6.
Prepair 1000+ v0.99 C6 Zornitza Stark reviewed gene: C6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.99 C7 Zornitza Stark Tag for review was removed from gene: C7.
Prepair 1000+ v0.99 C7 Zornitza Stark reviewed gene: C7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.99 BGN Zornitza Stark Tag for review was removed from gene: BGN.
Prepair 1000+ v0.99 BGN Zornitza Stark Marked gene: BGN as ready
Prepair 1000+ v0.99 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Prepair 1000+ v0.99 BGN Zornitza Stark Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 (3), X-linked to Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)
Prepair 1000+ v0.98 BGN Zornitza Stark Publications for gene: BGN were set to
Prepair 1000+ v0.97 BGN Zornitza Stark reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.97 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Prepair 1000+ v0.97 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.97 ATP13A2 Zornitza Stark Publications for gene: ATP13A2 were set to
Prepair 1000+ v0.96 ATP13A2 Zornitza Stark Phenotypes for gene: ATP13A2 were changed from Spastic paraplegia 78, autosomal recessive, 617225 (3) to Kufor-Rakeb syndrome (MIM#606693)
Prepair 1000+ v0.95 ATP13A2 Zornitza Stark Tag for review was removed from gene: ATP13A2.
Prepair 1000+ v0.95 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome (MIM#606693); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.95 WNT10A Zornitza Stark Marked gene: WNT10A as ready
Prepair 1000+ v0.95 WNT10A Zornitza Stark Gene: wnt10a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.95 WNT10A Zornitza Stark Classified gene: WNT10A as Red List (low evidence)
Prepair 1000+ v0.95 WNT10A Zornitza Stark Gene: wnt10a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.94 TFR2 Zornitza Stark Tag for review tag was added to gene: TFR2.
Prepair 1000+ v0.94 TECPR2 Zornitza Stark Marked gene: TECPR2 as ready
Prepair 1000+ v0.94 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.94 TECPR2 Zornitza Stark Classified gene: TECPR2 as Green List (high evidence)
Prepair 1000+ v0.94 TECPR2 Zornitza Stark Gene: tecpr2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.93 TECPR2 Zornitza Stark reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.93 TAT Zornitza Stark Tag for review tag was added to gene: TAT.
Prepair 1000+ v0.93 SLC4A11 Zornitza Stark Tag for review tag was added to gene: SLC4A11.
Prepair 1000+ v0.93 SLC26A4 Zornitza Stark Marked gene: SLC26A4 as ready
Prepair 1000+ v0.93 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.93 SLC26A4 Zornitza Stark Classified gene: SLC26A4 as Red List (low evidence)
Prepair 1000+ v0.93 SLC26A4 Zornitza Stark Gene: slc26a4 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.92 SLC26A4 Zornitza Stark reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791), Pendred syndrome (MIM#274600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.92 SLC12A3 Zornitza Stark Tag for review tag was added to gene: SLC12A3.
Prepair 1000+ v0.92 RS1 Zornitza Stark Tag for review tag was added to gene: RS1.
Prepair 1000+ v0.92 PYGM Zornitza Stark Tag for review tag was added to gene: PYGM.
Prepair 1000+ v0.92 OAT Zornitza Stark Tag for review tag was added to gene: OAT.
Prepair 1000+ v0.92 NR2E3 Zornitza Stark Tag for review tag was added to gene: NR2E3.
Prepair 1000+ v0.92 MEFV Zornitza Stark Tag for review tag was added to gene: MEFV.
Prepair 1000+ v0.92 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
Prepair 1000+ v0.92 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.92 MCCC2 Zornitza Stark Classified gene: MCCC2 as Red List (low evidence)
Prepair 1000+ v0.92 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.91 MCCC1 Zornitza Stark reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.91 MCCC1 Zornitza Stark Marked gene: MCCC1 as ready
Prepair 1000+ v0.91 MCCC1 Zornitza Stark Gene: mccc1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.91 MCCC1 Zornitza Stark Classified gene: MCCC1 as Red List (low evidence)
Prepair 1000+ v0.91 MCCC1 Zornitza Stark Gene: mccc1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.90 LOXHD1 Zornitza Stark Marked gene: LOXHD1 as ready
Prepair 1000+ v0.90 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.90 LOXHD1 Zornitza Stark Classified gene: LOXHD1 as Red List (low evidence)
Prepair 1000+ v0.90 LOXHD1 Zornitza Stark Gene: loxhd1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.89 LOXHD1 Zornitza Stark reviewed gene: LOXHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77 (MIM#613079); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.89 HYAL1 Zornitza Stark Marked gene: HYAL1 as ready
Prepair 1000+ v0.89 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.89 HYAL1 Zornitza Stark Classified gene: HYAL1 as Red List (low evidence)
Prepair 1000+ v0.89 HYAL1 Zornitza Stark Gene: hyal1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.88 HOGA1 Zornitza Stark Tag for review tag was added to gene: HOGA1.
Prepair 1000+ v0.88 HGD Zornitza Stark Marked gene: HGD as ready
Prepair 1000+ v0.88 HGD Zornitza Stark Gene: hgd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.88 HGD Zornitza Stark Classified gene: HGD as Red List (low evidence)
Prepair 1000+ v0.88 HGD Zornitza Stark Gene: hgd has been classified as Red List (Low Evidence).
Prepair 1000+ v0.87 HFE Zornitza Stark Marked gene: HFE as ready
Prepair 1000+ v0.87 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Prepair 1000+ v0.87 HFE Zornitza Stark Classified gene: HFE as Red List (low evidence)
Prepair 1000+ v0.87 HFE Zornitza Stark Gene: hfe has been classified as Red List (Low Evidence).
Prepair 1000+ v0.86 HBA2 Zornitza Stark Tag for review tag was added to gene: HBA2.
Prepair 1000+ v0.86 HBA1 Zornitza Stark Tag for review tag was added to gene: HBA1.
Prepair 1000+ v0.86 GRHPR Zornitza Stark Tag for review tag was added to gene: GRHPR.
Prepair 1000+ v0.86 GP9 Zornitza Stark Tag for review tag was added to gene: GP9.
Prepair 1000+ v0.86 GP1BA Zornitza Stark Tag for review tag was added to gene: GP1BA.
Prepair 1000+ v0.86 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Prepair 1000+ v0.86 GJB2 Zornitza Stark Gene: gjb2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.86 GJB2 Zornitza Stark Classified gene: GJB2 as Red List (low evidence)
Prepair 1000+ v0.86 GJB2 Zornitza Stark Gene: gjb2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.85 GJB2 Zornitza Stark reviewed gene: GJB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.85 GJB1 Zornitza Stark Tag for review tag was added to gene: GJB1.
Prepair 1000+ v0.85 GALK1 Zornitza Stark Tag for review tag was added to gene: GALK1.
Prepair 1000+ v0.85 G6PD Zornitza Stark Tag for review tag was added to gene: G6PD.
Prepair 1000+ v0.85 F11 Zornitza Stark Tag for review tag was added to gene: F11.
Prepair 1000+ v0.85 EYS Zornitza Stark Tag for review tag was added to gene: EYS.
Prepair 1000+ v0.85 CYP21A2 Zornitza Stark Tag for review tag was added to gene: CYP21A2.
Prepair 1000+ v0.85 CYP19A1 Zornitza Stark Tag for review tag was added to gene: CYP19A1.
Prepair 1000+ v0.85 WNT10A Crystle Lee gene: WNT10A was added
gene: WNT10A was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: WNT10A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: WNT10A were set to 19559398; 30426266
Phenotypes for gene: WNT10A were set to Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD
Penetrance for gene: WNT10A were set to Incomplete
Review for gene: WNT10A was set to RED
Added comment: Well established gene disease association.

Genotype-phenotype correlation is unclear. The same variant has been associated with all 3 phenotypes and both AR and AD inheritance. Variable expressivity, however milder phenotypes seem to be associated with AD (PMID: 19559398; 30426266)
Sources: Literature
Prepair 1000+ v0.85 TFR2 Crystle Lee gene: TFR2 was added
gene: TFR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFR2 were set to 29743178
Phenotypes for gene: TFR2 were set to Hemochromatosis, type 3, MIM#604250
Review for gene: TFR2 was set to AMBER
Added comment: Age of onset in individuals with TFR2-HHC is earlier than in individuals with HFE-associated hereditary hemochromatosis (Gene Reviews)

PMID: 29743178: Mean age at diagnosis for TFR2 HH (32 years) was significantly higher than for HJV HH
Sources: Literature
Prepair 1000+ v0.85 TECPR2 Crystle Lee gene: TECPR2 was added
gene: TECPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466; 35130874
Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Review for gene: TECPR2 was set to GREEN
Added comment: SPG49 is an autosomal recessive complicated form of spastic paraplegia. PMID 23176824 reported 4 Jewish Bukharian individuals homozygous for same founder variant and delayed psychomotor development, intellectual disability, and onset of spastic paraplegia in the first decade. Affected individuals also had dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, some of which were fatal. Three additional patients from unrelated non-Bukharian families reported in PMID 26542466, harboring two novel variants (c.1319delT, c.C566T) in this gene. In addition to intellectual disability and evolving spasticity, autonomic-sensory neuropathy accompanied by chronic respiratory disease and paroxysmal autonomic events were prominent
Sources: Literature
Prepair 1000+ v0.85 TAT Crystle Lee gene: TAT was added
gene: TAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAT were set to 16574453
Phenotypes for gene: TAT were set to Tyrosinemia, type II (MIM#276600)
Review for gene: TAT was set to AMBER
Added comment: Well established gene-disease association. Also known as Richner-Hanhart syndrome, the clinical hallmarks consist of a triad of painful palmoplantar keratoderma, keratitis with photophobia and variable mental impairment.

RHS shows inter and intrafamilial phenotypic variability. Phenotype variability observed even among individuals sharing the same pathogenic variant.
Sources: Literature
Prepair 1000+ v0.85 SLC4A11 Crystle Lee gene: SLC4A11 was added
gene: SLC4A11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A11 were set to 26451371; 20118786; 21203343
Phenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
Review for gene: SLC4A11 was set to AMBER
Added comment: Well established gene-disease association. Inter- and intra-familial variability and no genotype-phenotype correlation
Sources: Literature
Prepair 1000+ v0.85 SLC26A4 Crystle Lee gene: SLC26A4 was added
gene: SLC26A4 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: SLC26A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A4 were set to 24599119
Phenotypes for gene: SLC26A4 were set to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791); Pendred syndrome (MIM#274600)
Review for gene: SLC26A4 was set to AMBER
Added comment: PDS and NSEVA are considered a disease spectrum and are distinguishable based on the presence of thyroid dysfunction in PDS (GeneReviews).

In relation to severity of hearing, there's no correlation between missense vs PTCs. There was great variation in hearing loss severity with the same mutations. Phenotype cannot be predicted from the genotype (PMID: 24599119)
Sources: Literature
Prepair 1000+ v0.85 SLC12A3 Crystle Lee gene: SLC12A3 was added
gene: SLC12A3 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 8528245; 11102542
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (MIM#263800)
Review for gene: SLC12A3 was set to AMBER
Added comment: Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most individuals have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis.

Well established gene-disease association.
Sources: Literature
Prepair 1000+ v0.85 CYP11B1 Zornitza Stark Tag for review tag was added to gene: CYP11B1.
Prepair 1000+ v0.85 RS1 Crystle Lee gene: RS1 was added
gene: RS1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RS1 were set to 15932525; 23453514; 23847049
Phenotypes for gene: RS1 were set to Retinoschisis (MIM#312700)
Review for gene: RS1 was set to AMBER
Added comment: - This gene is known to be associated with X-linked recessive disease, however, some affected females have been reported (OMIM).
- May not clinically manifest until middle life (OMIM)
- Many PTCs and missense reported. All result in same XLRS phenotype (although expression can be variable). Also a knockout mouse with similar phenotype.
- PTCs and missense involving cysteines tend to result in a more severe phenotype, whereas other missense can vary widely in severity (PMID: 23847049).
Sources: Literature
Prepair 1000+ v0.85 PYGM Crystle Lee gene: PYGM was added
gene: PYGM was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGM were set to McArdle disease (MIM#232600)
Review for gene: PYGM was set to AMBER
Added comment: Gene-disease association for bi-allelic variants is well established.

McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria

Clinical heterogeneity exists; about 10% of all affected individuals have mild manifestations (e.g., fatigue or poor stamina without contractures) and remain virtually asymptomatic during daily activities of living(Gene Reviews)
Sources: Literature
Prepair 1000+ v0.85 OAT Crystle Lee gene: OAT was added
gene: OAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 33463379; 34340878
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia (MIM#258870)
Review for gene: OAT was set to AMBER
Added comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.

There is evidence of intra-familial variability.
Sources: Literature
Prepair 1000+ v0.85 NR2E3 Crystle Lee gene: NR2E3 was added
gene: NR2E3 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NR2E3 were set to 32679203; 33138239; 19139342; 26910043
Phenotypes for gene: NR2E3 were set to Enhanced S-cone syndrome (MIM#268100); Retinitis pigmentosa 37 (MIM#611131)
Review for gene: NR2E3 was set to AMBER
Added comment: Both biallelic and monoallelic variants associated with a range of phenotypes including retinitis pigments (NR2E3-related retinal dystrophy). Highly variable phenotype.

PMID: 26910043: Single variant associated with a wide range of phenotypic characteristics
Sources: Literature
Prepair 1000+ v0.85 MEFV Crystle Lee gene: MEFV was added
gene: MEFV was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR (MIM#249100)
Penetrance for gene: MEFV were set to Incomplete
Review for gene: MEFV was set to AMBER
Added comment: Well established association. Predominantly bi-allelic, though a limited range of heterozygous variants have been associated with disease.
Sources: Literature
Prepair 1000+ v0.85 MCCC2 Crystle Lee gene: MCCC2 was added
gene: MCCC2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210)
Review for gene: MCCC2 was set to RED
Added comment: Variants in this gene cause a biochemical defect. Relationship to clinical features is less certain.

Variants in this gene have been reported in multiple individuals with ID/regression/neurological phenotypes. However, ascertainment through NBS programs indicates most individuals remain asymptomatic and therefore caution should be applied in interpreting the clinical significance of variants in this gene (though they undoubtedly cause a biochemical phenotype).
Sources: Literature
Prepair 1000+ v0.85 CERKL Zornitza Stark Tag for review tag was added to gene: CERKL.
Prepair 1000+ v0.85 MCCC1 Crystle Lee gene: MCCC1 was added
gene: MCCC1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC1 were set to 31730530
Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200)
Review for gene: MCCC1 was set to RED
Added comment: Highly variable phenotype. May present in infancy but also be present in asymptomatic adults (OMIM)

Variants in this gene cause a biochemical defect. The relationship to clinical phenotype has been questioned by NBS programs, PMID 31730530.
Sources: Literature
Prepair 1000+ v0.85 BTD Zornitza Stark Tag for review tag was added to gene: BTD.
Prepair 1000+ v0.85 AIRE Zornitza Stark Tag for review tag was added to gene: AIRE.
Prepair 1000+ v0.85 KCNE1 Zornitza Stark Marked gene: KCNE1 as ready
Prepair 1000+ v0.85 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.85 KCNE1 Zornitza Stark Phenotypes for gene: KCNE1 were changed from Jervell and Lange-Nielsen syndrome 2, 612347 (3) to Jervell and Lange-Nielsen syndrome 2, MIM# 612347
Prepair 1000+ v0.84 KCNE1 Zornitza Stark Classified gene: KCNE1 as Red List (low evidence)
Prepair 1000+ v0.84 KCNE1 Zornitza Stark Gene: kcne1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.83 KCNE1 Zornitza Stark reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.83 VPS13A Zornitza Stark Tag for review tag was added to gene: VPS13A.
Prepair 1000+ v0.83 TH Zornitza Stark Marked gene: TH as ready
Prepair 1000+ v0.83 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Prepair 1000+ v0.83 TH Zornitza Stark Phenotypes for gene: TH were changed from Segawa syndrome, recessive, 605407 (3) to Segawa syndrome, recessive, MIM# 605407
Prepair 1000+ v0.82 SPG11 Zornitza Stark Marked gene: SPG11 as ready
Prepair 1000+ v0.82 SPG11 Zornitza Stark Gene: spg11 has been classified as Green List (High Evidence).
Prepair 1000+ v0.82 SPG11 Zornitza Stark Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive, 604360 (3) to Spastic paraplegia 11, autosomal recessive, MIM# 604360
Prepair 1000+ v0.81 SPG11 Zornitza Stark Publications for gene: SPG11 were set to
Prepair 1000+ v0.80 SPART Zornitza Stark Marked gene: SPART as ready
Prepair 1000+ v0.80 SPART Zornitza Stark Gene: spart has been classified as Green List (High Evidence).
Prepair 1000+ v0.80 SPART Zornitza Stark Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 (3) to Troyer syndrome (MIM#275900); SPG20; MONDO:0010156
Prepair 1000+ v0.79 SPART Zornitza Stark Publications for gene: SPART were set to
Prepair 1000+ v0.78 SETX Zornitza Stark Marked gene: SETX as ready
Prepair 1000+ v0.78 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Prepair 1000+ v0.78 SETX Zornitza Stark Phenotypes for gene: SETX were changed from Spinocerebellar ataxia, autosomal recessive 1, 606002 (3) to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002)
Prepair 1000+ v0.77 SETX Zornitza Stark Publications for gene: SETX were set to
Prepair 1000+ v0.76 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Prepair 1000+ v0.76 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Prepair 1000+ v0.76 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from Neurodegeneration with brain iron accumulation 2B, 610217 (3) to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217
Prepair 1000+ v0.75 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Prepair 1000+ v0.74 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Prepair 1000+ v0.74 PANK2 Zornitza Stark Gene: pank2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.74 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200 (3) to Neurodegeneration with brain iron accumulation 1, MIM#234200
Prepair 1000+ v0.73 PANK2 Zornitza Stark Publications for gene: PANK2 were set to
Prepair 1000+ v0.72 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Prepair 1000+ v0.72 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.72 NPC2 Zornitza Stark Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2, 607625 (3) to Niemann-pick disease, type C2, MIM#607625
Prepair 1000+ v0.71 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Prepair 1000+ v0.70 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Prepair 1000+ v0.70 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.70 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from Niemann-Pick disease, type C1, 257220 (3) to Niemann-Pick disease, type C1, MIM#257220
Prepair 1000+ v0.69 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Prepair 1000+ v0.68 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Restrictive dermopathy, lethal, MIM#275210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.68 LMNA Zornitza Stark Marked gene: LMNA as ready
Prepair 1000+ v0.68 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Prepair 1000+ v0.68 LMNA Zornitza Stark Publications for gene: LMNA were set to
Prepair 1000+ v0.67 LDLR Zornitza Stark Tag for review tag was added to gene: LDLR.
Prepair 1000+ v0.67 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Prepair 1000+ v0.67 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Prepair 1000+ v0.67 FIG4 Zornitza Stark Phenotypes for gene: FIG4 were changed from Yunis-Varon syndrome, 216340 (3) to Yunis-Varon syndrome, MIM#216340
Prepair 1000+ v0.66 FIG4 Zornitza Stark Publications for gene: FIG4 were set to
Prepair 1000+ v0.65 LOXHD1 Crystle Lee gene: LOXHD1 was added
gene: LOXHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LOXHD1 were set to 31547530
Phenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive 77 (MIM#613079)
Review for gene: LOXHD1 was set to AMBER
Added comment: Well established gene disease association with non-syndromic hearing loss.
Sources: Literature
Prepair 1000+ v0.65 IGHM Zornitza Stark Tag for review tag was added to gene: IGHM.
Prepair 1000+ v0.65 DOCK2 Zornitza Stark Marked gene: DOCK2 as ready
Prepair 1000+ v0.65 DOCK2 Zornitza Stark Gene: dock2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.65 DOCK2 Zornitza Stark Publications for gene: DOCK2 were set to
Prepair 1000+ v0.64 PRKRA Zornitza Stark Tag for review tag was added to gene: PRKRA.
Prepair 1000+ v0.64 KCNQ1 Zornitza Stark Tag for review tag was added to gene: KCNQ1.
Prepair 1000+ v0.64 GLA Zornitza Stark Marked gene: GLA as ready
Prepair 1000+ v0.64 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Prepair 1000+ v0.64 GLA Zornitza Stark Phenotypes for gene: GLA were changed from Fabry disease, 301500 (3) to Fabry disease, MIM#301500
Prepair 1000+ v0.63 GLA Zornitza Stark Publications for gene: GLA were set to
Prepair 1000+ v0.62 FA2H Zornitza Stark Marked gene: FA2H as ready
Prepair 1000+ v0.62 FA2H Zornitza Stark Gene: fa2h has been classified as Green List (High Evidence).
Prepair 1000+ v0.62 FA2H Zornitza Stark Publications for gene: FA2H were set to
Prepair 1000+ v0.61 HYAL1 Crystle Lee gene: HYAL1 was added
gene: HYAL1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL1 were set to 10339581; 18344557; 21559944
Phenotypes for gene: HYAL1 were set to Mucopolysaccharidosis type IX (MIM#601492)
Review for gene: HYAL1 was set to RED
Added comment: Two families reported: in one, multiple soft tissue masses were the predominant clinical manifestation, and in the second, juvenile arthritis. Mouse model.

>15 pLoF variants reported as pathogenic in ClinVar. All submitted by a single lab and evidence suggests that the variant has not been previously reported.

Insufficient gene disease association. Not suitable for inclusion in a carrier screening panel
Sources: Literature
Prepair 1000+ v0.61 HOGA1 Crystle Lee gene: HOGA1 was added
gene: HOGA1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 31123811
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III (MIM#613616)
Review for gene: HOGA1 was set to AMBER
Added comment: Well-established association with primary hyperoxaluria type III (PH3). Variable phenotype

Three distinct genetic forms of PH have been defined: PH1–3. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. It does not develop ESRD generally
Sources: Literature
Prepair 1000+ v0.61 HGD Crystle Lee gene: HGD was added
gene: HGD was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGD were set to 25804398
Phenotypes for gene: HGD were set to Alkaptonuria (MIM#203500)
Review for gene: HGD was set to RED
Added comment: Well established gene disease association. Symptoms occur in adulthood.

Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. (Gene Reviews)
Sources: Literature
Prepair 1000+ v0.61 HFE Crystle Lee gene: HFE was added
gene: HFE was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Hemochromatosis (MIM#235200)
Penetrance for gene: HFE were set to Incomplete
Review for gene: HFE was set to RED
Added comment: Well established gene disease association. HFE hemochromatosis is an adult-onset, treatable disorder with low clinical penetrance (Gene Reviews).

Not suitable for population carrier screening.
Sources: Literature
Prepair 1000+ v0.61 HBA2 Crystle Lee gene: HBA2 was added
gene: HBA2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131
Review for gene: HBA2 was set to RED
Added comment: Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.

Note deletions are common.
Sources: Literature
Prepair 1000+ v0.61 HBA1 Crystle Lee gene: HBA1 was added
gene: HBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Erythrocytosis 7, MIM# 617981; Heinz body anemias, alpha-, MIM# 140700; Methemoglobinemia, alpha type , MIM#617973; Thalassemias, alpha-, MIM# 604131; Hemoglobin H disease, nondeletional, MIM# 613978
Review for gene: HBA1 was set to RED
Added comment: Well established gene-disease associations. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.

Note deletions are common.
Sources: Literature
Prepair 1000+ v0.61 GRHPR Crystle Lee gene: GRHPR was added
gene: GRHPR was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II (MIM#260000)
Review for gene: GRHPR was set to AMBER
Added comment: Well established gene-disease association, more than 10 families reported.
Onset usually in infancy or early childhood, variable severity and some patients may be asymptomatic (OMIM; Gene Reviews)
Sources: Literature
Prepair 1000+ v0.61 GP9 Crystle Lee gene: GP9 was added
gene: GP9 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP9 were set to 8049428; 33553065; 32030720; 31484196
Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C (MIM#231200)
Review for gene: GP9 was set to AMBER
Added comment: Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5.

At least 3 unrelated families reported, animal model.
Sources: Literature
Prepair 1000+ v0.61 GP1BA Crystle Lee gene: GP1BA was added
gene: GP1BA was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GP1BA were set to 21173099; 24934643; 18081445
Phenotypes for gene: GP1BA were set to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930
Review for gene: GP1BA was set to AMBER
Added comment: Bernard-Soulier syndrome is usually transmitted as a recessive trait with giant platelets and severe bleeding tendency.
Sources: Literature
Prepair 1000+ v0.61 GJB2 Crystle Lee gene: GJB2 was added
gene: GJB2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Review for gene: GJB2 was set to AMBER
Added comment: Well established gene disease association. AR deafness MIM#220290 is associated with biallelic variants or digenic dominant with large deletion in GJB6
Sources: Literature
Prepair 1000+ v0.61 GJB1 Crystle Lee gene: GJB1 was added
gene: GJB1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Review for gene: GJB1 was set to AMBER
Added comment: CMTX has both demyelinating and axonal features. Well established gene-disease association, over 100 families reported. Variable phenotype with incomplete penetrance (OMIM)

PMID 31842800: Three unrelated males with GJB1 variants and recurrent episodes of reversible posterior leukoencephalopathy reported.
Sources: Literature
Prepair 1000+ v0.61 GALK1 Crystle Lee gene: GALK1 was added
gene: GALK1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALK1 were set to 32807972
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts (MIM#230200)
Review for gene: GALK1 was set to AMBER
Added comment: Well established gene disease association. Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable
Sources: Literature
Prepair 1000+ v0.61 G6PD Crystle Lee gene: G6PD was added
gene: G6PD was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism) (MIM#300908)
Review for gene: G6PD was set to AMBER
Added comment: Well established gene disease association. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening

Note: OMIM states this is XLD, however it is males that a repeatedly reported affected and just carrier females; females are affected when HOMOZYGOUS, meaning this is primarily an XLR condition
Sources: Literature
Prepair 1000+ v0.61 F11 Crystle Lee gene: F11 was added
gene: F11 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: F11 were set to 18446632; 15026311; 27723456
Phenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant (MIM#612416); Factor XI deficiency, autosomal recessive, (MIM#612416)
Review for gene: F11 was set to AMBER
Added comment: Recessive cases are more severe than heterozygous carriers, who may be asymptomatic despite having FXI deficiency (PMID:18446632). Dominant negative missense tend to have dominant inheritance patterns (PMID:15026311), while PTCs are generally recessive, though symptomatic carriers have been reported (OMIM).

PMID: 27723456 - "Bleeding due to FXI deficiency is variable and does not correlate with the plasma FXI level or FXI coagulant activity1"
Sources: Literature
Prepair 1000+ v0.61 EYS Crystle Lee gene: EYS was added
gene: EYS was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: EYS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EYS were set to 31074760
Phenotypes for gene: EYS were set to Retinitis pigmentosa 25 (MIM#602772)
Review for gene: EYS was set to AMBER
Added comment: Well established gene disease association. Highly variable age of onset of retinal disease
Sources: Literature
Prepair 1000+ v0.61 CYP21A2 Crystle Lee gene: CYP21A2 was added
gene: CYP21A2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910)
Review for gene: CYP21A2 was set to RED
Added comment: Well established gene-disease association.

Pseudogene and structural variants make NGS data difficult to interpret. Not suitable for inclusion in a carrier screening panel due to technical reasons
Sources: Literature
Prepair 1000+ v0.61 CERKL Crystle Lee edited their review of gene: CERKL: Changed rating: AMBER
Prepair 1000+ v0.61 CYP19A1 Crystle Lee gene: CYP19A1 was added
gene: CYP19A1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP19A1 were set to 29553041; 17164303; 25264451
Phenotypes for gene: CYP19A1 were set to Aromatase deficiency (MIM#613546)
Review for gene: CYP19A1 was set to AMBER
Added comment: Aromatase deficiency is a rare disease characterized by a decrease in estrogen synthesis. Clinical characteristics of patients with aromatase deficiency vary depending on gender, age and enzymatic activity

CYP19A1 loss-of-function because of biallelic mutations leads to aromatase deficiency, whereas CYP19A1 overexpression because of genomic rearrangements results in aromatase excess syndrome (https://doi.org/10.1016/j.coemr.2020.03.002)
Sources: Literature
Prepair 1000+ v0.61 CYP11B1 Crystle Lee gene: CYP11B1 was added
gene: CYP11B1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B1 were set to 8768848
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (MIM#202010)
Review for gene: CYP11B1 was set to AMBER
Added comment: CAH due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension.

Well established gene-disease association.
Sources: Literature
Prepair 1000+ v0.61 CERKL Crystle Lee edited their review of gene: CERKL: Changed publications: 33322828, 32036094
Prepair 1000+ v0.61 CERKL Crystle Lee changed review comment from: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease. Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype.
Sources: Literature; to: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease. Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype.
Sources: Literature
Prepair 1000+ v0.61 CERKL Crystle Lee gene: CERKL was added
gene: CERKL was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERKL were set to 33322828
Phenotypes for gene: CERKL were set to Retinitis pigmentosa 26 (MIM#608380)
Review for gene: CERKL was set to RED
Added comment: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease. Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype.
Sources: Literature
Prepair 1000+ v0.61 BTD Crystle Lee gene: BTD was added
gene: BTD was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 16435182; 20301497; 32440248
Phenotypes for gene: BTD were set to Biotinidase deficiency (MIM#253260)
Review for gene: BTD was set to RED
Added comment: Well-established gene disease association. Genotype/phenotype correlations in biotinidase deficiency are not well established, decisions regarding treatment should be based on the results of enzyme activity rather than molecular genetic testing.

May be challenging to predict phenotypic outcome in a carrier screening context.
Sources: Literature
Prepair 1000+ v0.61 AIRE Crystle Lee gene: AIRE was added
gene: AIRE was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIRE were set to 35521792; 28323927
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300)
Review for gene: AIRE was set to AMBER
Added comment: Well established gene disease association. Onset in childhood however phenotype can vary even between siblings with the same genotype. Therefore, it may be difficult (?impossible) to predict the severity/age of onset from the genotype

Most reported individuals have bi-allelic variants. AD inheritance has been reported in a single family (OMIM) p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM)
Sources: Literature
Prepair 1000+ v0.61 KCNE1 Crystle Lee reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 5, MIM# 613695, Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Acquired LQTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 VPS13A Crystle Lee reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28446873; Phenotypes: Choreoacanthocytosis (MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 TH Crystle Lee reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive (MIM#605407); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 SPG11 Crystle Lee reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33581793; Phenotypes: Spastic paraplegia 11, autosomal recessive (MIM#604360); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 SPART Crystle Lee reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 31535723, 28875386, 28679690; Phenotypes: Troyer syndrome (MIM#275900), SPG20, MONDO:0010156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 SETX Crystle Lee 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+ v0.61 PLA2G6 Crystle Lee reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35803092; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 PANK2 Crystle Lee reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15911822; Phenotypes: HARP syndrome (MIM#607236), Neurodegeneration with brain iron accumulation 1 (MIM#234200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 NPC2 Crystle Lee reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29625568, 17470133; Phenotypes: Niemann-pick disease, type C2 (MIM#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 NPC1 Crystle Lee reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11333381, 26910362; Phenotypes: Niemann-Pick disease, type C1 (MIM#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 LMNA Crystle Lee reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18551513, 15148145, 17377071; Phenotypes: Emery-Dreifuss muscular dystrophy 3, autosomal recessive (MIM#616516), Mandibuloacral dysplasia (MIM#248370); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.61 LDLR Crystle Lee reviewed gene: LDLR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: LDL cholesterol level QTL2/Hypercholesterolemia, familial, 1 (MIM#143890); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.61 FIG4 Crystle Lee reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30740813, 23623387, 17572665, 24878229; Phenotypes: Yunis-Varon syndrome (MIM#216340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 IGHM Crystle Lee reviewed gene: IGHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12370281, 8890099; Phenotypes: Agammaglobulinemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 DOCK2 Crystle Lee reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26083206, 29204803, 33928462, 30826364; Phenotypes: Immunodeficiency 40 (MIM#616433); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 PRKRA Crystle Lee reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: None; Publications: 35844281, 18243799, 25142429, 35844287; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 KCNQ1 Crystle Lee reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29033053, 28438721; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.61 GLA Crystle Lee reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29649853, 20301469; Phenotypes: Fabry disease (MIM#301500); 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+ v0.61 DSP Zornitza Stark Marked gene: DSP as ready
Prepair 1000+ v0.61 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Prepair 1000+ v0.61 DSP Zornitza Stark Phenotypes for gene: DSP were changed from Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) to Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676); Epidermolysis bullosa, lethal acantholytic (MIM#609638)
Prepair 1000+ v0.60 DSP Zornitza Stark Publications for gene: DSP were set to
Prepair 1000+ v0.59 CASQ2 Zornitza Stark Tag for review tag was added to gene: CASQ2.
Prepair 1000+ v0.59 ATP7B Zornitza Stark Marked gene: ATP7B as ready
Prepair 1000+ v0.59 ATP7B Zornitza Stark Gene: atp7b has been classified as Green List (High Evidence).
Prepair 1000+ v0.59 ATP7B Zornitza Stark Publications for gene: ATP7B were set to
Prepair 1000+ v0.58 ATP13A2 Zornitza Stark Tag for review tag was added to gene: ATP13A2.
Prepair 1000+ v0.58 BGN Zornitza Stark Tag for review tag was added to gene: BGN.
Prepair 1000+ v0.58 C8B Zornitza Stark Tag for review tag was added to gene: C8B.
Prepair 1000+ v0.58 C7 Zornitza Stark Tag for review tag was added to gene: C7.
Prepair 1000+ v0.58 C6 Zornitza Stark Tag for review tag was added to gene: C6.
Prepair 1000+ v0.58 FA2H Crystle Lee reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive (MIM#612319); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 DSP Crystle Lee reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22795705, 16175511, 20302578, 20613772, 16467215; Phenotypes: Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676), Epidermolysis bullosa, lethal acantholytic (MIM#609638); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 PGK1 Zornitza Stark Tag for review tag was added to gene: PGK1.
Prepair 1000+ v0.58 GK Zornitza Stark Tag for review tag was added to gene: GK.
Prepair 1000+ v0.58 CASQ2 Crystle Lee reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34012068; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 ATP7B Crystle Lee reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28433102; Phenotypes: Wilson disease (MIM#277900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 ATP13A2 Crystle Lee reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: None; Publications: 28137957, 30746398; Phenotypes: Kufor-Rakeb syndrome (MIM#606693), Spastic paraplegia 78, autosomal recessive (MIM#617225); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 BGN Crystle Lee reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27632686, 17502576, 27236923; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.58 C8B Crystle Lee reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484, 31440263; Phenotypes: C8 deficiency, type II (MIM#613789); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 C7 Crystle Lee reviewed gene: C7: Rating: AMBER; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 C6 Crystle Lee reviewed gene: C6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31440263, 23537992, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency (MIM#612446); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 PGK1 Crystle Lee reviewed gene: PGK1: Rating: ; Mode of pathogenicity: None; Publications: 16567715, 30887539, 22348148, 28580215; Phenotypes: Phosphoglycerate kinase 1 deficiency (MIM#300653); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.58 GK Crystle Lee reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: None; Publications: 33212314, 16549535, 10851254, 9719371, 8651297; Phenotypes: Glycerol kinase deficiency (MIM#307030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.58 HERC2 Zornitza Stark Tag for review tag was added to gene: HERC2.
Prepair 1000+ v0.58 GBA Zornitza Stark Tag for review tag was added to gene: GBA.
Prepair 1000+ v0.58 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Prepair 1000+ v0.58 SAMD9 Zornitza Stark Gene: samd9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.58 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Prepair 1000+ v0.57 SAMD9 Zornitza Stark Classified gene: SAMD9 as Red List (low evidence)
Prepair 1000+ v0.57 SAMD9 Zornitza Stark Gene: samd9 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.56 FTCD Zornitza Stark Tag for review tag was added to gene: FTCD.
Prepair 1000+ v0.56 KRT85 Zornitza Stark Marked gene: KRT85 as ready
Prepair 1000+ v0.56 KRT85 Zornitza Stark Gene: krt85 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.56 KRT85 Zornitza Stark Classified gene: KRT85 as Red List (low evidence)
Prepair 1000+ v0.56 KRT85 Zornitza Stark Gene: krt85 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.55 KRT85 Zornitza Stark reviewed gene: KRT85: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 4, hair/nail type (MIM#602032); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.55 RAG2 Zornitza Stark Marked gene: RAG2 as ready
Prepair 1000+ v0.55 RAG2 Zornitza Stark Gene: rag2 has been classified as Green List (High Evidence).
Prepair 1000+ v0.55 RAG2 Zornitza Stark Publications for gene: RAG2 were set to
Prepair 1000+ v0.54 CARD9 Zornitza Stark Tag for review tag was added to gene: CARD9.
Prepair 1000+ v0.54 PLG Zornitza Stark Tag for review tag was added to gene: PLG.
Prepair 1000+ v0.54 GYS2 Zornitza Stark Tag for review tag was added to gene: GYS2.
Prepair 1000+ v0.54 MPZ Zornitza Stark Tag for review tag was added to gene: MPZ.
Prepair 1000+ v0.54 HERC2 Crystle Lee reviewed gene: HERC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31124564, 11896453; Phenotypes: Intellectual developmental disorder, autosomal recessive 38 (MIM#615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.54 GBA Crystle Lee reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28727984; Phenotypes: Gaucher disease, perinatal lethal (MIM#608013); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.54 NCF1 Zornitza Stark Tag for review tag was added to gene: NCF1.
Prepair 1000+ v0.54 NEB Zornitza Stark Tag for review tag was added to gene: NEB.
Prepair 1000+ v0.54 HYDIN Zornitza Stark Tag for review tag was added to gene: HYDIN.
Prepair 1000+ v0.54 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Prepair 1000+ v0.54 SNORD118 Zornitza Stark Gene: snord118 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.54 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Prepair 1000+ v0.53 SNORD118 Zornitza Stark Classified gene: SNORD118 as Red List (low evidence)
Prepair 1000+ v0.53 SNORD118 Zornitza Stark Gene: snord118 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.52 SNORD118 Zornitza Stark reviewed gene: SNORD118: Rating: RED; Mode of pathogenicity: None; Publications: 32361877, 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.52 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Prepair 1000+ v0.52 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.52 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Prepair 1000+ v0.51 CHM Zornitza Stark Tag for review tag was added to gene: CHM.
Prepair 1000+ v0.51 PROC Zornitza Stark Tag for review tag was added to gene: PROC.
Prepair 1000+ v0.51 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Prepair 1000+ v0.51 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.51 IKBKG Zornitza Stark Classified gene: IKBKG as Amber List (moderate evidence)
Prepair 1000+ v0.51 IKBKG Zornitza Stark Gene: ikbkg has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.50 IKBKG Zornitza Stark reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.50 SAMD9 Crystle Lee reviewed gene: SAMD9: Rating: RED; Mode of pathogenicity: None; Publications: 16960814, 18094730; Phenotypes: MIRAGE syndrome (MIM#617053), Monosomy 7 myelodysplasia and leukemia syndrome 2 (MIM#619041), Tumoral calcinosis, familial, normophosphatemic (MIM#610455); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.50 FTCD Crystle Lee reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: None; Publications: 29178637, 30740726, 12815595; Phenotypes: Glutamate formiminotransferase deficiency (MIM#229100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 KRT85 Crystle Lee reviewed gene: KRT85: Rating: AMBER; Mode of pathogenicity: None; Publications: 16525032, 19865094, 31273852; Phenotypes: Ectodermal dysplasia 4, hair/nail type (MIM#602032); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 RAG2 Crystle Lee reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26996199, 30046960; Phenotypes: 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+ v0.50 CARD9 Crystle Lee reviewed gene: CARD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 30136218; Phenotypes: Immunodeficiency 103, susceptibility to fungal infection (MIM#212050); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 PLG Crystle Lee changed review comment from: 2 AR conditions associated with PLG; Type I plasminogen deficiency and type II plasminogen deficiency, also known as 'dysplasminogenemia'. Patients with type II deficiency are usually asymptomatic (OMIM). The most common clinical manifestation is ligneous conjunctivitis. Other neurological manifestations such as hydrocephalus and Dandy Walker malformation can also be present in some patients

PMID: 21174000: Phenotype shows inter- and intra- familial variability. Residual PLG activity does not always correlate with clinical severity

AR condition can be associated with severe, early onset presentation; to: 2 AR conditions associated with PLG; Type I plasminogen deficiency and type II plasminogen deficiency, also known as 'dysplasminogenemia'. Patients with type II deficiency are usually asymptomatic (OMIM). The most common clinical manifestation is ligneous conjunctivitis. Other neurological manifestations such as hydrocephalus and Dandy Walker malformation can also be present in some patients

PMID: 21174000: Phenotype shows inter- and intra- familial variability. Residual PLG activity does not always correlate with clinical severity

AR condition can be associated with severe, early onset presentation
Prepair 1000+ v0.50 PLG Crystle Lee reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 9242524, 35244080; Phenotypes: Angioedema, hereditary, 4 (MIM#619360), Dysplasminogenemia (MIM#217090), Plasminogen deficiency, type I (MIM#217090); Mode of inheritance: None
Prepair 1000+ v0.50 GYS2 Crystle Lee reviewed gene: GYS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18341095, 32395408; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 MPZ Crystle Lee reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 30239779, 8816708, 12845552, 16488608, 26310628, 8630052; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate D (MIM#607791), Charcot-Marie-Tooth disease, type 1B (MIM#118200), Charcot-Marie-Tooth disease, type 2I (MIM#607677), Charcot-Marie-Tooth disease, type 2J (MIM#607736), Dejerine-Sottas disease (MIM#145900), Hypomyelinating neuropathy, congenital, 2 (MIM#618184), Roussy-Levy syndrome (MIM#180800); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 NCF1 Crystle Lee reviewed gene: NCF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30651282, 23688784; Phenotypes: Chronic granulomatous disease 1, autosomal recessive (MIM#233700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 NEB Crystle Lee reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27228465; Phenotypes: Arthrogryposis multiplex congenita 6 (MIM#619334), Nemaline myopathy 2, autosomal recessive (MIM#256030); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 HYDIN Crystle Lee reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 23022101, 28441829, 31116566; Phenotypes: Ciliary dyskinesia, primary, 5 (MIM#608647); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 SNORD118 Crystle Lee reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: None; Publications: 33029936; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts (MIM#614561); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.50 UBA1 Crystle Lee reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179898, 32181232, 31932168, 29034082, 23518311, 26028276; 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+ v0.50 CHM Crystle Lee reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 33110609, 27820636; Phenotypes: Choroideremia (MIM#303100); 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+ v0.50 PROC Crystle Lee reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 PROC Crystle Lee Deleted their review
Prepair 1000+ v0.50 PROC Crystle Lee changed review comment from: Gene is associated AD and AR thrombophilia 3 due to protein C deficiency

AR form of condition is associated with variable severity and occasional late-onset of symptoms with homozygosity

Heterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis.

Difficult to define penetrance as represents risk factor for thrombophilia.

Challenge in interpretation and reporting in a carrier screening context; to: Gene is associated AD and AR thrombophilia 3 due to protein C deficiency

AR form of condition is associated with variable severity and occasional late-onset of symptoms with homozygosity

Heterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis.

Difficult to define penetrance as represents risk factor for thrombophilia.

Challenge in interpretation and reporting in a carrier screening context
Prepair 1000+ v0.50 PROC Crystle Lee reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304), Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.50 IKBKG Crystle Lee reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.50 RYR1 Zornitza Stark Tag for review tag was added to gene: RYR1.
Prepair 1000+ v0.50 CNGA3 Zornitza Stark Tag for review tag was added to gene: CNGA3.
Prepair 1000+ v0.50 F2 Zornitza Stark Tag for review tag was added to gene: F2.
Prepair 1000+ v0.50 F5 Zornitza Stark Tag for review tag was added to gene: F5.
Prepair 1000+ v0.50 F9 Zornitza Stark Tag for review tag was added to gene: F9.
Prepair 1000+ v0.50 ITGA6 Zornitza Stark Marked gene: ITGA6 as ready
Prepair 1000+ v0.50 ITGA6 Zornitza Stark Gene: itga6 has been classified as Green List (High Evidence).
Prepair 1000+ v0.50 ITGA6 Zornitza Stark Publications for gene: ITGA6 were set to
Prepair 1000+ v0.49 PDHA1 Zornitza Stark Tag for review tag was added to gene: PDHA1.
Prepair 1000+ v0.49 RYR1 Crystle Lee reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease (MIM#117000), Minicore myopathy with external ophthalmoplegia (MIM#255320), Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.49 CNGA3 Crystle Lee reviewed gene: CNGA3: Rating: RED; Mode of pathogenicity: None; Publications: 11536077, 35332618; Phenotypes: Achromatopsia 2 (MIM#216900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.49 F2 Crystle Lee reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysprothrombinemia (MIM#613679), Hypoprothrombinemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.49 F5 Crystle Lee reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 F9 Crystle Lee reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.49 ITGA6 Crystle Lee reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140, 34525201, 20301336; Phenotypes: Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.49 PDHA1 Crystle Lee reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28584645, 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); 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+ v0.49 TTN Zornitza Stark Marked gene: TTN as ready
Prepair 1000+ v0.49 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.49 TTN Zornitza Stark Classified gene: TTN as Amber List (moderate evidence)
Prepair 1000+ v0.49 TTN Zornitza Stark Gene: ttn has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.48 VWF Zornitza Stark Marked gene: VWF as ready
Prepair 1000+ v0.48 VWF Zornitza Stark Gene: vwf has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.48 VWF Zornitza Stark Classified gene: VWF as Amber List (moderate evidence)
Prepair 1000+ v0.48 VWF Zornitza Stark Gene: vwf has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.47 SHOX Zornitza Stark Marked gene: SHOX as ready
Prepair 1000+ v0.47 SHOX Zornitza Stark Gene: shox has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.47 SHOX Zornitza Stark Mode of inheritance for gene: SHOX was changed from BIALLELIC, autosomal or pseudoautosomal to Other
Prepair 1000+ v0.46 SHOX Zornitza Stark Classified gene: SHOX as Amber List (moderate evidence)
Prepair 1000+ v0.46 SHOX Zornitza Stark Gene: shox has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v0.45 SHOX Zornitza Stark Tag SV/CNV tag was added to gene: SHOX.
Prepair 1000+ v0.45 EFNB1 Zornitza Stark Tag for review tag was added to gene: EFNB1.
Prepair 1000+ v0.45 VPS11 Zornitza Stark Marked gene: VPS11 as ready
Prepair 1000+ v0.45 VPS11 Zornitza Stark Gene: vps11 has been classified as Green List (High Evidence).
Prepair 1000+ v0.45 VPS11 Zornitza Stark Publications for gene: VPS11 were set to
Prepair 1000+ v0.44 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Prepair 1000+ v0.44 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Red List (Low Evidence).
Prepair 1000+ v0.44 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Prepair 1000+ v0.43 TNFRSF13B Zornitza Stark Classified gene: TNFRSF13B as Red List (low evidence)
Prepair 1000+ v0.43 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Red List (Low Evidence).
Prepair 1000+ v0.42 RPL10 Zornitza Stark Tag for review tag was added to gene: RPL10.
Prepair 1000+ v0.42 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Prepair 1000+ v0.42 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.42 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Red List (low evidence)
Prepair 1000+ v0.42 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.41 TRAC Zornitza Stark Tag for review tag was added to gene: TRAC.
Prepair 1000+ v0.41 OCA2 Zornitza Stark Tag for review tag was added to gene: OCA2.
Prepair 1000+ v0.41 F8 Zornitza Stark Marked gene: F8 as ready
Prepair 1000+ v0.41 F8 Zornitza Stark Gene: f8 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.41 F8 Zornitza Stark Tag SV/CNV tag was added to gene: F8.
Prepair 1000+ v0.41 F8 Zornitza Stark Classified gene: F8 as Red List (low evidence)
Prepair 1000+ v0.41 F8 Zornitza Stark Gene: f8 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.40 TTN Crystle Lee reviewed gene: TTN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1G (MIM#604145), Cardiomyopathy, familial hypertrophic, 9 (MIM#613765), Muscular dystrophy, limb-girdle, autosomal recessive 10 (MIM#608807), Myopathy, myofibrillar, 9, with early respiratory failure (MIM#603689), Salih myopathy (MIM#611705), Tibial muscular dystrophy, tardive (MIM#600334); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 VWF Crystle Lee reviewed gene: VWF: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1 (MIM#193400), von Willebrand disease, type 3 (MIM#277480), von Willebrand disease, types 2A, 2B, 2M, and 2N (MIM#613554); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 SHOX Crystle Lee reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Langer mesomelic dysplasia (MIM#249700), Leri-Weill dyschondrosteosis (MIM#127300), Short stature, idiopathic familial (MIM#300582); Mode of inheritance: Other
Prepair 1000+ v0.40 EFNB1 Crystle Lee reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); 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+ v0.40 VPS11 Crystle Lee reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12 (MIM#616683); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 TNFRSF13B Crystle Lee reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: None; Publications: 31681265; Phenotypes: Immunodeficiency, common variable, 2 (MIM#240500); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v0.40 RPL10 Crystle Lee reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 25316788, 26290468, 25846674, 29066376; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.40 SERPINA1 Crystle Lee reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency (MIM#613490), Emphysema-cirrhosis, due to AAT deficiency (MIM#613490), Hemorrhagic diathesis due to antithrombin Pittsburgh (MIM#613490); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 TRAC Crystle Lee reviewed gene: TRAC: Rating: RED; Mode of pathogenicity: None; Publications: 33909184, 21206088; Phenotypes: Immunodeficiency 7, TCR-alpha/beta deficient (MIM#615387); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 OCA2 Crystle Lee reviewed gene: OCA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, brown oculocutaneous (MIM#203200), Albinism, oculocutaneous, type II (MIM#203200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.40 F8 Crystle Lee reviewed gene: F8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia A (MIM#306700); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.40 VPS37A Zornitza Stark Marked gene: VPS37A as ready
Prepair 1000+ v0.40 VPS37A Zornitza Stark Gene: vps37a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.40 VPS37A Zornitza Stark Publications for gene: VPS37A were set to
Prepair 1000+ v0.39 VPS37A Zornitza Stark Classified gene: VPS37A as Red List (low evidence)
Prepair 1000+ v0.39 VPS37A Zornitza Stark Gene: vps37a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.38 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Prepair 1000+ v0.38 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Prepair 1000+ v0.38 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Prepair 1000+ v0.37 UQCRQ Zornitza Stark Classified gene: UQCRQ as Red List (low evidence)
Prepair 1000+ v0.37 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Prepair 1000+ v0.36 SGO1 Zornitza Stark Marked gene: SGO1 as ready
Prepair 1000+ v0.36 SGO1 Zornitza Stark Gene: sgo1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.36 SGO1 Zornitza Stark Publications for gene: SGO1 were set to
Prepair 1000+ v0.35 SGO1 Zornitza Stark Classified gene: SGO1 as Red List (low evidence)
Prepair 1000+ v0.35 SGO1 Zornitza Stark Gene: sgo1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.34 SGO1 Zornitza Stark Tag founder tag was added to gene: SGO1.
Prepair 1000+ v0.34 TSPAN7 Zornitza Stark Marked gene: TSPAN7 as ready
Prepair 1000+ v0.34 TSPAN7 Zornitza Stark Gene: tspan7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.34 TSPAN7 Zornitza Stark Phenotypes for gene: TSPAN7 were changed from Mental retardation, X-linked 58, 300210 (3) to Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266
Prepair 1000+ v0.33 TSPAN7 Zornitza Stark Publications for gene: TSPAN7 were set to
Prepair 1000+ v0.32 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v0.32 TSPAN7 Zornitza Stark Classified gene: TSPAN7 as Red List (low evidence)
Prepair 1000+ v0.32 TSPAN7 Zornitza Stark Gene: tspan7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.31 TSPAN7 Zornitza Stark Tag disputed tag was added to gene: TSPAN7.
Prepair 1000+ v0.31 VPS37A Crystle Lee reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: None; Publications: 22717650, 29473047; Phenotypes: Spastic paraplegia 53, autosomal recessive (MIM#614898); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.31 UQCRQ Crystle Lee reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4 (MIM#615159); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.31 SGO1 Crystle Lee reviewed gene: SGO1: Rating: RED; Mode of pathogenicity: None; Publications: 25282101; Phenotypes: Chronic atrial and intestinal dysrhythmia, MIM# 616201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.31 TSPAN7 Crystle Lee reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.31 ALG2 Crystle Lee commented on gene: ALG2: One additional variant reported in association with CDG on top of the previously reviewed patients reported with CDG/congenital myasthenia

PMID: 33644825: R251L reported in 3 probands from 2 families with CDG (same patients in PMID: 30397276)
Prepair 1000+ v0.31 SEMA4A Zornitza Stark Marked gene: SEMA4A as ready
Prepair 1000+ v0.31 SEMA4A Zornitza Stark Gene: sema4a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.31 SEMA4A Zornitza Stark Phenotypes for gene: SEMA4A were changed from Cone-rod dystrophy 10, 610283 (3) to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282
Prepair 1000+ v0.30 SEMA4A Zornitza Stark Publications for gene: SEMA4A were set to
Prepair 1000+ v0.29 SEMA4A Zornitza Stark Classified gene: SEMA4A as Red List (low evidence)
Prepair 1000+ v0.29 SEMA4A Zornitza Stark Gene: sema4a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.28 SEMA4A Zornitza Stark reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.28 SEC23A Zornitza Stark Marked gene: SEC23A as ready
Prepair 1000+ v0.28 SEC23A Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.28 SEC23A Zornitza Stark Phenotypes for gene: SEC23A were changed from Craniolenticulosutural dysplasia, 607812 (3) to Craniolenticulosutural dysplasia (MIM# 607812)
Prepair 1000+ v0.27 SEC23A Zornitza Stark Publications for gene: SEC23A were set to
Prepair 1000+ v0.26 SEC23A Zornitza Stark Classified gene: SEC23A as Red List (low evidence)
Prepair 1000+ v0.26 SEC23A Zornitza Stark Gene: sec23a has been classified as Red List (Low Evidence).
Prepair 1000+ v0.25 SEC23A Zornitza Stark reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.25 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Prepair 1000+ v0.25 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.25 NUP62 Zornitza Stark Phenotypes for gene: NUP62 were changed from Striatonigral degeneration, infantile, 271930 (3) to Striatonigral degeneration, infantile - MIM#271930
Prepair 1000+ v0.24 NUP62 Zornitza Stark Publications for gene: NUP62 were set to
Prepair 1000+ v0.23 NUP62 Zornitza Stark Classified gene: NUP62 as Red List (low evidence)
Prepair 1000+ v0.23 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.22 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.22 NLGN4X Zornitza Stark Marked gene: NLGN4X as ready
Prepair 1000+ v0.22 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Prepair 1000+ v0.22 NLGN4X Zornitza Stark Phenotypes for gene: NLGN4X were changed from Mental retardation, X-linked, 300495 (3) to Intellectual developmental disorder, X-linked (MIM#300495)
Prepair 1000+ v0.21 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to
Prepair 1000+ v0.20 NLGN4X Zornitza Stark Classified gene: NLGN4X as Red List (low evidence)
Prepair 1000+ v0.20 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Red List (Low Evidence).
Prepair 1000+ v0.19 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Prepair 1000+ v0.19 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.19 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Prepair 1000+ v0.18 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Prepair 1000+ v0.17 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Red List (low evidence)
Prepair 1000+ v0.17 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.16 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.16 MCM4 Zornitza Stark Marked gene: MCM4 as ready
Prepair 1000+ v0.16 MCM4 Zornitza Stark Gene: mcm4 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.16 MCM4 Zornitza Stark Phenotypes for gene: MCM4 were changed from Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3) to Immunodeficiency 54, MIM# 609981
Prepair 1000+ v0.15 MCM4 Zornitza Stark Publications for gene: MCM4 were set to
Prepair 1000+ v0.14 MCM4 Zornitza Stark Classified gene: MCM4 as Red List (low evidence)
Prepair 1000+ v0.14 MCM4 Zornitza Stark Gene: mcm4 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.13 MCM4 Zornitza Stark reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.13 LDHB Zornitza Stark Marked gene: LDHB as ready
Prepair 1000+ v0.13 LDHB Zornitza Stark Gene: ldhb has been classified as Red List (Low Evidence).
Prepair 1000+ v0.13 LDHB Zornitza Stark Classified gene: LDHB as Red List (low evidence)
Prepair 1000+ v0.13 LDHB Zornitza Stark Gene: ldhb has been classified as Red List (Low Evidence).
Prepair 1000+ v0.12 IGFBP7 Zornitza Stark Marked gene: IGFBP7 as ready
Prepair 1000+ v0.12 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.12 IGFBP7 Zornitza Stark Phenotypes for gene: IGFBP7 were changed from Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3) to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, MIM#614224
Prepair 1000+ v0.11 IGFBP7 Zornitza Stark Publications for gene: IGFBP7 were set to
Prepair 1000+ v0.10 IGFBP7 Zornitza Stark Classified gene: IGFBP7 as Red List (low evidence)
Prepair 1000+ v0.10 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.9 IGFBP7 Zornitza Stark reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.9 EMG1 Zornitza Stark Marked gene: EMG1 as ready
Prepair 1000+ v0.9 EMG1 Zornitza Stark Gene: emg1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.9 EMG1 Zornitza Stark Publications for gene: EMG1 were set to
Prepair 1000+ v0.8 EMG1 Zornitza Stark Classified gene: EMG1 as Red List (low evidence)
Prepair 1000+ v0.8 EMG1 Zornitza Stark Gene: emg1 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.7 EMG1 Zornitza Stark reviewed gene: EMG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.7 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Prepair 1000+ v0.7 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Prepair 1000+ v0.7 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, 270750 (3), Autosomal recessive to Spastic paraplegia 23, MIM# 270750
Prepair 1000+ v0.6 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Prepair 1000+ v0.5 DSTYK Zornitza Stark Classified gene: DSTYK as Red List (low evidence)
Prepair 1000+ v0.5 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Prepair 1000+ v0.4 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.4 ALG2 Zornitza Stark Marked gene: ALG2 as ready
Prepair 1000+ v0.4 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.4 ALG2 Zornitza Stark Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906
Prepair 1000+ v0.3 ALG2 Zornitza Stark Publications for gene: ALG2 were set to
Prepair 1000+ v0.2 ALG2 Zornitza Stark Classified gene: ALG2 as Red List (low evidence)
Prepair 1000+ v0.2 ALG2 Zornitza Stark Gene: alg2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.1 ALG2 Zornitza Stark reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Prepair 1000+ v0.1 PIBF1 Zornitza Stark Marked gene: PIBF1 as ready
Prepair 1000+ v0.1 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.1 PIBF1 Zornitza Stark Classified gene: PIBF1 as Green List (high evidence)
Prepair 1000+ v0.1 PIBF1 Zornitza Stark Gene: pibf1 has been classified as Green List (High Evidence).
Prepair 1000+ v0.0 PIBF1 Zornitza Stark reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 33 (MIM#617767); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 SEMA4A Crystle Lee reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: 16199541, 28805479; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v0.0 SEC23A Crystle Lee changed review comment from: Amber in Mendeliome. Insufficient evidence for inclusion.

There is only one family reported with convincing evidence for gene-disease association, and we have downgraded this gene on other panels.; to: Amber in Mendeliome. Insufficient evidence for inclusion.

There is only one family reported with convincing evidence for gene-disease association, and we have downgraded this gene on other panels.
Prepair 1000+ v0.0 SEC23A Crystle Lee reviewed gene: SEC23A: Rating: ; Mode of pathogenicity: None; Publications: 16980979, 21039434, 16980978, 27148587; Phenotypes: Craniolenticulosutural dysplasia (MIM# 607812); Mode of inheritance: None
Prepair 1000+ v0.0 NUP62 Crystle Lee reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 NLGN4X Crystle Lee 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+ v0.0 NDUFA11 Crystle Lee reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 MCM4 Crystle Lee reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: 22354167, 22354170, 22499342; Phenotypes: Immunodeficiency 54, MIM# 609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 LDHB Crystle Lee reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 IGFBP7 Crystle Lee reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosiS, MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 EMG1 Crystle Lee reviewed gene: EMG1: Rating: RED; Mode of pathogenicity: None; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome MIM #2111180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 DSTYK Crystle Lee reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 28157540, 23862974; Phenotypes: Spastic paraplegia 23, MIM# 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.0 ALG2 Crystle Lee reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23404334, 24461433, 12684507; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: None
Prepair 1000+ v0.0 PIBF1 Crystle Lee gene: PIBF1 was added
gene: PIBF1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768; 30858804; 29695797; 33004012
Phenotypes for gene: PIBF1 were set to Joubert syndrome 33 (MIM#617767)
Review for gene: PIBF1 was set to AMBER
Added comment: Green gene to be considered for inclusion

Three unrelated families plus three Hutterite families reported with bi-allelic variants in this gene.
Sources: Literature
Prepair 1000+ v0.0 ZNF469 Zornitza Stark gene: ZNF469 was added
gene: ZNF469 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1, MIM #229200
Prepair 1000+ v0.0 YIF1B Zornitza Stark gene: YIF1B was added
gene: YIF1B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 32006098; 26077767
Phenotypes for gene: YIF1B were set to Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly
Prepair 1000+ v0.0 UQCRC2 Zornitza Stark gene: UQCRC2 was added
gene: UQCRC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
Prepair 1000+ v0.0 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UPB1 were set to 24526388
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM #613161
Prepair 1000+ v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3)
Prepair 1000+ v0.0 TSPYL1 Zornitza Stark gene: TSPYL1 was added
gene: TSPYL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
Prepair 1000+ v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: TRAPPC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC6B were set to 28397838; 28626029; 31687267
Phenotypes for gene: TRAPPC6B were set to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862
Prepair 1000+ v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC12 were set to 32369837; 28777934
Phenotypes for gene: TRAPPC12 were set to Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669
Prepair 1000+ v0.0 TPRKB Zornitza Stark gene: TPRKB was added
gene: TPRKB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPRKB were set to 30053862; 28805828
Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731
Prepair 1000+ v0.0 TP53RK Zornitza Stark gene: TP53RK was added
gene: TP53RK was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP53RK were set to 30053862; 28805828
Phenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730
Prepair 1000+ v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TBX22 were set to Cleft palate with ankyloglossia, MIM #303400
Prepair 1000+ v0.0 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 32162791; 24239381; 32740904
Phenotypes for gene: TBC1D20 were set to Martsolf syndrome; Warburg micro syndrome 4, MIM# 615663
Prepair 1000+ v0.0 PUS7 Zornitza Stark gene: PUS7 was added
gene: PUS7 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862; 31583274; 30778726
Phenotypes for gene: PUS7 were set to OMIM #618342; Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Prepair 1000+ v0.0 PTPN23 Zornitza Stark gene: PTPN23 was added
gene: PTPN23 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 25558065; 31395947; 27848944; 29899372; 29090338
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890
Prepair 1000+ v0.0 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3)
Prepair 1000+ v0.0 PDE6B Zornitza Stark gene: PDE6B was added
gene: PDE6B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, MIM #613801
Prepair 1000+ v0.0 OPN1LW Zornitza Stark gene: OPN1LW was added
gene: OPN1LW was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPN1LW were set to Blue cone monochromacy, MIM#303700; Colorblindness, protan, MIM#303900
Prepair 1000+ v0.0 KRT8 Zornitza Stark gene: KRT8 was added
gene: KRT8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: KRT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT8 were set to 12724528; 11372009; 15235035
Phenotypes for gene: KRT8 were set to CIRRHOSIS, FAMILIAL, MIM #215600
Prepair 1000+ v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 27717396; 22512483; 26854491; 32198874; 25810266
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Prepair 1000+ v0.0 ISCA1 Zornitza Stark gene: ISCA1 was added
gene: ISCA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 32092383; 30113620; 30105122; 31016283; 28356563
Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613
Prepair 1000+ v0.0 IMPG2 Zornitza Stark gene: IMPG2 was added
gene: IMPG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, MIM #613801
Prepair 1000+ v0.0 GTPBP2 Zornitza Stark gene: GTPBP2 was added
gene: GTPBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 30790272; 26675814; 29449720
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988
Prepair 1000+ v0.0 FITM2 Zornitza Stark gene: FITM2 was added
gene: FITM2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FITM2 were set to 30214770; 28067622; 30288795
Phenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635
Prepair 1000+ v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinitis pigmentosa 28, MIM #606068
Prepair 1000+ v0.0 COG5 Zornitza Stark gene: COG5 was added
gene: COG5 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 32174980; 31572517; 23228021
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi, MIM# 613612
Prepair 1000+ v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869 (3)
Prepair 1000+ v0.0 CD81 Zornitza Stark gene: CD81 was added
gene: CD81 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD81 were set to 20237408
Phenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, 613496 (3)
Prepair 1000+ v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Prepair 1000+ v0.0 BCAP31 Zornitza Stark gene: BCAP31 was added
gene: BCAP31 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 31330203; 24011989; 33603160
Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Prepair 1000+ v0.0 AFF2 Zornitza Stark gene: AFF2 was added
gene: AFF2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Red
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AFF2 were set to Mental retardation, X-linked, FRAXE type, #309548
Prepair 1000+ v0.0 ADPRHL2 Zornitza Stark gene: ADPRHL2 was added
gene: ADPRHL2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30401461; 30100084
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Prepair 1000+ v0.0 ACY1 Zornitza Stark gene: ACY1 was added
gene: ACY1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 24117009; 16465618; 16274666; 17562838
Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924
Prepair 1000+ v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, MIM#614265
Prepair 1000+ v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum MIM#264800; Arterial calcification, generalized, of infancy, 2 MIM#614473
Prepair 1000+ v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3 MIM#604116; Stargardt disease 1 MIM#248200; Retinal dystrophy, early-onset severe MIM#248200
Prepair 1000+ v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1, 613159 (3)
Prepair 1000+ v0.0 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
Prepair 1000+ v0.0 TMEM94 Zornitza Stark gene: TMEM94 was added
gene: TMEM94 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316
Prepair 1000+ v0.0 RPL10 Zornitza Stark gene: RPL10 was added
gene: RPL10 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 (MIM#300998)
Prepair 1000+ v0.0 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220; Van Esch-O'Driscoll syndrome, MIM #301030
Prepair 1000+ v0.0 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31692205; 31668703
Phenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Prepair 1000+ v0.0 MOGS Zornitza Stark gene: MOGS was added
gene: MOGS was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 30587846; 33058492; 31925597
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM# 606056
Prepair 1000+ v0.0 MBTPS1 Zornitza Stark gene: MBTPS1 was added
gene: MBTPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Literature,Expert Review
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 30046013; 32420688
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392
Prepair 1000+ v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Prepair 1000+ v0.0 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, 607598 (3)
Prepair 1000+ v0.0 DYNC1I2 Zornitza Stark gene: DYNC1I2 was added
gene: DYNC1I2 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Expert Review
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Prepair 1000+ v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Mackenzie's Mission
Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL2A1 were set to 32896647; 31755234
Phenotypes for gene: COL2A1 were set to Spondyloperipheral dysplasia, MIM #271700
Prepair 1000+ v0.0 B9D1 Zornitza Stark gene: B9D1 was added
gene: B9D1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627; 24886560; 25920555
Phenotypes for gene: B9D1 were set to Joubert syndrome 27, MIM# 617120; Meckel syndrome 9, MIM# 614209
Prepair 1000+ v0.0 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565 (3), Autosomal recessive
Prepair 1000+ v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)
Prepair 1000+ v0.0 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive
Prepair 1000+ v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to Ciliary dyskinesia, primary, 22, 615444 (3)
Prepair 1000+ v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy, lethal, 275210 (3)
Prepair 1000+ v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)
Prepair 1000+ v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)
Prepair 1000+ v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)
Prepair 1000+ v0.0 ZC4H2 Zornitza Stark gene: ZC4H2 was added
gene: ZC4H2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, 314580 (3)
Prepair 1000+ v0.0 ZBTB24 Zornitza Stark gene: ZBTB24 was added
gene: ZBTB24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)
Prepair 1000+ v0.0 ZAP70 Zornitza Stark gene: ZAP70 was added
gene: ZAP70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3)
Prepair 1000+ v0.0 YARS2 Zornitza Stark gene: YARS2 was added
gene: YARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Prepair 1000+ v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822 (3), Autosomal recessive
Prepair 1000+ v0.0 XYLT1 Zornitza Stark gene: XYLT1 was added
gene: XYLT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, 615777 (3)
Prepair 1000+ v0.0 XRCC4 Zornitza Stark gene: XRCC4 was added
gene: XRCC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive
Prepair 1000+ v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)
Prepair 1000+ v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)
Prepair 1000+ v0.0 XIAP Zornitza Stark gene: XIAP was added
gene: XIAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)
Prepair 1000+ v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)
Prepair 1000+ v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRN were set to Werner syndrome, 277700 (3)
Prepair 1000+ v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988 (3)
Prepair 1000+ v0.0 WNT7A Zornitza Stark gene: WNT7A was added
gene: WNT7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT7A were set to Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)
Prepair 1000+ v0.0 WNT10B Zornitza Stark gene: WNT10B was added
gene: WNT10B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6, 225300 (3)
Prepair 1000+ v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, 615220 (3)
Prepair 1000+ v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Prepair 1000+ v0.0 WISP3 Zornitza Stark gene: WISP3 was added
gene: WISP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Prepair 1000+ v0.0 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)
Prepair 1000+ v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome, 222300 (3)
Prepair 1000+ v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
Prepair 1000+ v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome, 251300 (3)
Prepair 1000+ v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Prepair 1000+ v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
Prepair 1000+ v0.0 WDR45B Zornitza Stark gene: WDR45B was added
gene: WDR45B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR45B were set to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive
Prepair 1000+ v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
Prepair 1000+ v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Prepair 1000+ v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Senior-Loken syndrome 8, 616307 (3)
Prepair 1000+ v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)
Prepair 1000+ v0.0 WARS2 Zornitza Stark gene: WARS2 was added
gene: WARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive
Prepair 1000+ v0.0 VWF Zornitza Stark gene: VWF was added
gene: VWF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VWF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VWF were set to von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
Prepair 1000+ v0.0 VSX2 Zornitza Stark gene: VSX2 was added
gene: VSX2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)
Prepair 1000+ v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)
Prepair 1000+ v0.0 VPS53 Zornitza Stark gene: VPS53 was added
gene: VPS53 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)
Prepair 1000+ v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)
Prepair 1000+ v0.0 VPS37A Zornitza Stark gene: VPS37A was added
gene: VPS37A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898 (3)
Prepair 1000+ v0.0 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
Prepair 1000+ v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)
Prepair 1000+ v0.0 VPS13A Zornitza Stark gene: VPS13A was added
gene: VPS13A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150 (3)
Prepair 1000+ v0.0 VPS11 Zornitza Stark gene: VPS11 was added
gene: VPS11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
Prepair 1000+ v0.0 VMA21 Zornitza Stark gene: VMA21 was added
gene: VMA21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive
Prepair 1000+ v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Prepair 1000+ v0.0 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)
Prepair 1000+ v0.0 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)
Prepair 1000+ v0.0 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917 (3)
Prepair 1000+ v0.0 VARS Zornitza Stark gene: VARS was added
gene: VARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive
Prepair 1000+ v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)
Prepair 1000+ v0.0 USH2A Zornitza Stark gene: USH2A was added
gene: USH2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)
Prepair 1000+ v0.0 USH1G Zornitza Stark gene: USH1G was added
gene: USH1G was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)
Prepair 1000+ v0.0 USH1C Zornitza Stark gene: USH1C was added
gene: USH1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)
Prepair 1000+ v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3)
Prepair 1000+ v0.0 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3)
Prepair 1000+ v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)
Prepair 1000+ v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)
Prepair 1000+ v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive
Prepair 1000+ v0.0 UNC13D Zornitza Stark gene: UNC13D was added
gene: UNC13D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Prepair 1000+ v0.0 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to Orotic aciduria, 258900 (3)
Prepair 1000+ v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)
Prepair 1000+ v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive
Prepair 1000+ v0.0 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)
Prepair 1000+ v0.0 UBE3B Zornitza Stark gene: UBE3B was added
gene: UBE3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, 244450 (3)
Prepair 1000+ v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)
Prepair 1000+ v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)
Prepair 1000+ v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive
Prepair 1000+ v0.0 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
Prepair 1000+ v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)
Prepair 1000+ v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)
Prepair 1000+ v0.0 TYMP Zornitza Stark gene: TYMP was added
gene: TYMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
Prepair 1000+ v0.0 TYK2 Zornitza Stark gene: TYK2 was added
gene: TYK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYK2 were set to Immunodeficiency 35, 611521 (3)
Prepair 1000+ v0.0 TXNL4A Zornitza Stark gene: TXNL4A was added
gene: TXNL4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, 608572 (3)
Prepair 1000+ v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)
Prepair 1000+ v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3)
Prepair 1000+ v0.0 TULP1 Zornitza Stark gene: TULP1 was added
gene: TULP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)
Prepair 1000+ v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678 (3)
Prepair 1000+ v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
Prepair 1000+ v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)
Prepair 1000+ v0.0 TTPA Zornitza Stark gene: TTPA was added
gene: TTPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)
Prepair 1000+ v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Prepair 1000+ v0.0 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39, 615541 (3)
Prepair 1000+ v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)
Prepair 1000+ v0.0 TTC7A Zornitza Stark gene: TTC7A was added
gene: TTC7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
Prepair 1000+ v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)
Prepair 1000+ v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
Prepair 1000+ v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
Prepair 1000+ v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3)
Prepair 1000+ v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
Prepair 1000+ v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)
Prepair 1000+ v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)
Prepair 1000+ v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)
Prepair 1000+ v0.0 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)
Prepair 1000+ v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
Prepair 1000+ v0.0 TRMU Zornitza Stark gene: TRMU was added
gene: TRMU was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)
Prepair 1000+ v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)
Prepair 1000+ v0.0 TRIT1 Zornitza Stark gene: TRIT1 was added
gene: TRIT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive
Prepair 1000+ v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, 200600 (3)
Prepair 1000+ v0.0 TRIM37 Zornitza Stark gene: TRIM37 was added
gene: TRIM37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)
Prepair 1000+ v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)
Prepair 1000+ v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)
Prepair 1000+ v0.0 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Prepair 1000+ v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, 613192 (3)
Prepair 1000+ v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
Prepair 1000+ v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Prepair 1000+ v0.0 TPM3 Zornitza Stark gene: TPM3 was added
gene: TPM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)
Prepair 1000+ v0.0 TPK1 Zornitza Stark gene: TPK1 was added
gene: TPK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
Prepair 1000+ v0.0 TPI1 Zornitza Stark gene: TPI1 was added
gene: TPI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)
Prepair 1000+ v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive
Prepair 1000+ v0.0 TNNT1 Zornitza Stark gene: TNNT1 was added
gene: TNNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3)
Prepair 1000+ v0.0 TNFSF11 Zornitza Stark gene: TNFSF11 was added
gene: TNFSF11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, 259710 (3)
Prepair 1000+ v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2, 240500 (3)
Prepair 1000+ v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)
Prepair 1000+ v0.0 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)
Prepair 1000+ v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive
Prepair 1000+ v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Prepair 1000+ v0.0 TMEM67 Zornitza Stark gene: TMEM67 was added
gene: TMEM67 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)
Prepair 1000+ v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)
Prepair 1000+ v0.0 TMEM237 Zornitza Stark gene: TMEM237 was added
gene: TMEM237 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)
Prepair 1000+ v0.0 TMEM231 Zornitza Stark gene: TMEM231 was added
gene: TMEM231 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)
Prepair 1000+ v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)
Prepair 1000+ v0.0 TMEM165 Zornitza Stark gene: TMEM165 was added
gene: TMEM165 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk, 614727 (3)
Prepair 1000+ v0.0 TMEM138 Zornitza Stark gene: TMEM138 was added
gene: TMEM138 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)
Prepair 1000+ v0.0 TMEM126A Zornitza Stark gene: TMEM126A was added
gene: TMEM126A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126A were set to Optic atrophy 7, 612989 (3)
Prepair 1000+ v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM107 were set to Orofaciodigital syndrome XVI, 617563 (3), Autosomal recessive
Prepair 1000+ v0.0 TMCO1 Zornitza Stark gene: TMCO1 was added
gene: TMCO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMCO1 were set to Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
Prepair 1000+ v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Prepair 1000+ v0.0 TJP2 Zornitza Stark gene: TJP2 was added
gene: TJP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TJP2 were set to Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Prepair 1000+ v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to Jensen syndrome, 311150 (3)
Prepair 1000+ v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Prepair 1000+ v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3)
Prepair 1000+ v0.0 TGM1 Zornitza Stark gene: TGM1 was added
gene: TGM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Prepair 1000+ v0.0 TF Zornitza Stark gene: TF was added
gene: TF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TF were set to Atransferrinemia, 209300 (3)
Prepair 1000+ v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive
Prepair 1000+ v0.0 TDRD7 Zornitza Stark gene: TDRD7 was added
gene: TDRD7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to Cataract 36, 613887 (3)
Prepair 1000+ v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)
Prepair 1000+ v0.0 TCTN2 Zornitza Stark gene: TCTN2 was added
gene: TCTN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to Joubert syndrome 24
Prepair 1000+ v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)
Prepair 1000+ v0.0 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)
Prepair 1000+ v0.0 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G, 601954 (3)
Prepair 1000+ v0.0 TBX19 Zornitza Stark gene: TBX19 was added
gene: TBX19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, 201400 (3)
Prepair 1000+ v0.0 TBCK Zornitza Stark gene: TBCK was added
gene: TBCK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCK were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive
Prepair 1000+ v0.0 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)
Prepair 1000+ v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Prepair 1000+ v0.0 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)
Prepair 1000+ v0.0 TBC1D23 Zornitza Stark gene: TBC1D23 was added
gene: TBC1D23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive
Prepair 1000+ v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)
Prepair 1000+ v0.0 TAP1 Zornitza Stark gene: TAP1 was added
gene: TAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAP1 were set to Bare lymphocyte syndrome, type I, 604571 (3)
Prepair 1000+ v0.0 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Prepair 1000+ v0.0 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency, 606003 (3)
Prepair 1000+ v0.0 SYP Zornitza Stark gene: SYP was added
gene: SYP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to Mental retardation, X-linked 96, 300802 (3)
Prepair 1000+ v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Prepair 1000+ v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)
Prepair 1000+ v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)
Prepair 1000+ v0.0 SUMF1 Zornitza Stark gene: SUMF1 was added
gene: SUMF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)
Prepair 1000+ v0.0 SUCLG1 Zornitza Stark gene: SUCLG1 was added
gene: SUCLG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)
Prepair 1000+ v0.0 SUCLA2 Zornitza Stark gene: SUCLA2 was added
gene: SUCLA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
Prepair 1000+ v0.0 STXBP2 Zornitza Stark gene: STXBP2 was added
gene: STXBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
Prepair 1000+ v0.0 STX11 Zornitza Stark gene: STX11 was added
gene: STX11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)
Prepair 1000+ v0.0 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
Prepair 1000+ v0.0 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive
Prepair 1000+ v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, 601186 (3)
Prepair 1000+ v0.0 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIM1 were set to Immunodeficiency 10, 612783 (3)
Prepair 1000+ v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, 612703 (3)
Prepair 1000+ v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)
Prepair 1000+ v0.0 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)
Prepair 1000+ v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261 (3)
Prepair 1000+ v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive
Prepair 1000+ v0.0 SSR4 Zornitza Stark gene: SSR4 was added
gene: SSR4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive
Prepair 1000+ v0.0 SRD5A3 Zornitza Stark gene: SRD5A3 was added
gene: SRD5A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379 (3)
Prepair 1000+ v0.0 SQSTM1 Zornitza Stark gene: SQSTM1 was added
gene: SQSTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SQSTM1 were set to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3), Autosomal recessive
Prepair 1000+ v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)
Prepair 1000+ v0.0 SPINT2 Zornitza Stark gene: SPINT2 was added
gene: SPINT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINT2 were set to Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)
Prepair 1000+ v0.0 SPINK5 Zornitza Stark gene: SPINK5 was added
gene: SPINK5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)
Prepair 1000+ v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, 604360 (3)
Prepair 1000+ v0.0 SPEG Zornitza Stark gene: SPEG was added
gene: SPEG was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 29614691; 30157964; 25087613; 29474540; 31625632; 28624463; 26578207; 30412272
Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959
Prepair 1000+ v0.0 SPATA7 Zornitza Stark gene: SPATA7 was added
gene: SPATA7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA7 were set to Leber congenital amaurosis 3, 604232 (3)
Prepair 1000+ v0.0 SPATA5 Zornitza Stark gene: SPATA5 was added
gene: SPATA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive
Prepair 1000+ v0.0 SPART Zornitza Stark gene: SPART was added
gene: SPART was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPART were set to Troyer syndrome, 275900 (3)
Prepair 1000+ v0.0 SPAG1 Zornitza Stark gene: SPAG1 was added
gene: SPAG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPAG1 were set to Ciliary dyskinesia, primary, 28, 615505 (3)
Prepair 1000+ v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
Prepair 1000+ v0.0 SOST Zornitza Stark gene: SOST was added
gene: SOST was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Sclerosteosis 1, 269500 (3)
Prepair 1000+ v0.0 SNX14 Zornitza Stark gene: SNX14 was added
gene: SNX14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)
Prepair 1000+ v0.0 SNORD118 Zornitza Stark gene: SNORD118 was added
gene: SNORD118 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive
Prepair 1000+ v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Prepair 1000+ v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)
Prepair 1000+ v0.0 SMPD1 Zornitza Stark gene: SMPD1 was added
gene: SMPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)
Prepair 1000+ v0.0 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)
Prepair 1000+ v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)
Prepair 1000+ v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type
Prepair 1000+ v0.0 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)
Prepair 1000+ v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
Prepair 1000+ v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
Prepair 1000+ v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)
Prepair 1000+ v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Prepair 1000+ v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Prepair 1000+ v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Prepair 1000+ v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)
Prepair 1000+ v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)
Prepair 1000+ v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)
Prepair 1000+ v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)
Prepair 1000+ v0.0 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC38A8 Zornitza Stark gene: SLC38A8 was added
gene: SLC38A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Prepair 1000+ v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)
Prepair 1000+ v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3)
Prepair 1000+ v0.0 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 24031089; 28777481; 28328131
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures (MIM615553)
Prepair 1000+ v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Prepair 1000+ v0.0 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)
Prepair 1000+ v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, 227810 (3)
Prepair 1000+ v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050 (3)
Prepair 1000+ v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Prepair 1000+ v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)
Prepair 1000+ v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)
Prepair 1000+ v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
Prepair 1000+ v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3)
Prepair 1000+ v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710
Prepair 1000+ v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Prepair 1000+ v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Prepair 1000+ v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Prepair 1000+ v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI, 113750 (3)
Prepair 1000+ v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)
Prepair 1000+ v0.0 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Prepair 1000+ v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Prepair 1000+ v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Prepair 1000+ v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)
Prepair 1000+ v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Prepair 1000+ v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3)
Prepair 1000+ v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3)
Prepair 1000+ v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Prepair 1000+ v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)
Prepair 1000+ v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)
Prepair 1000+ v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)
Prepair 1000+ v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)
Prepair 1000+ v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Prepair 1000+ v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)
Prepair 1000+ v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Prepair 1000+ v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
Prepair 1000+ v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive
Prepair 1000+ v0.0 SGO1 Zornitza Stark gene: SGO1 was added
gene: SGO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3)
Prepair 1000+ v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
Prepair 1000+ v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
Prepair 1000+ v0.0 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
Prepair 1000+ v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
Prepair 1000+ v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
Prepair 1000+ v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
Prepair 1000+ v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)
Prepair 1000+ v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)
Prepair 1000+ v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Prepair 1000+ v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
Prepair 1000+ v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)
Prepair 1000+ v0.0 SEMA4A Zornitza Stark gene: SEMA4A was added
gene: SEMA4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283 (3)
Prepair 1000+ v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)
Prepair 1000+ v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)
Prepair 1000+ v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)
Prepair 1000+ v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)
Prepair 1000+ v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)
Prepair 1000+ v0.0 SCYL1 Zornitza Stark gene: SCYL1 was added
gene: SCYL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
Prepair 1000+ v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Prepair 1000+ v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350 (3)
Prepair 1000+ v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)
Prepair 1000+ v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Insensitivity to pain, congenital, 243000 (3)
Prepair 1000+ v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)
Prepair 1000+ v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Prepair 1000+ v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)
Prepair 1000+ v0.0 SBF2 Zornitza Stark gene: SBF2 was added
gene: SBF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
Prepair 1000+ v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, 260400 (3)
Prepair 1000+ v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
Prepair 1000+ v0.0 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 (3)
Prepair 1000+ v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)
Prepair 1000+ v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Prepair 1000+ v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Prepair 1000+ v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)
Prepair 1000+ v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)
Prepair 1000+ v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive
Prepair 1000+ v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Prepair 1000+ v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12, 612650 (3)
Prepair 1000+ v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)
Prepair 1000+ v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)
Prepair 1000+ v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Prepair 1000+ v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Prepair 1000+ v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)
Prepair 1000+ v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)
Prepair 1000+ v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)
Prepair 1000+ v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)
Prepair 1000+ v0.0 RP2 Zornitza Stark gene: RP2 was added
gene: RP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)
Prepair 1000+ v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive
Prepair 1000+ v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, 268310 (3)
Prepair 1000+ v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)
Prepair 1000+ v0.0 ROBO3 Zornitza Stark gene: ROBO3 was added
gene: ROBO3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
Prepair 1000+ v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Prepair 1000+ v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
Prepair 1000+ v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)
Prepair 1000+ v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)
Prepair 1000+ v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)
Prepair 1000+ v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)
Prepair 1000+ v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)
Prepair 1000+ v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive
Prepair 1000+ v0.0 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3)
Prepair 1000+ v0.0 RIN2 Zornitza Stark gene: RIN2 was added
gene: RIN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
Prepair 1000+ v0.0 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Prepair 1000+ v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)
Prepair 1000+ v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710 (3)
Prepair 1000+ v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, 612015 (3)
Prepair 1000+ v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Prepair 1000+ v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)
Prepair 1000+ v0.0 REEP6 Zornitza Stark gene: REEP6 was added
gene: REEP6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77, 617304 (3), Autosomal recessive
Prepair 1000+ v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)
Prepair 1000+ v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)
Prepair 1000+ v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3)
Prepair 1000+ v0.0 RCBTB1 Zornitza Stark gene: RCBTB1 was added
gene: RCBTB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
Prepair 1000+ v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)
Prepair 1000+ v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Prepair 1000+ v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)
Prepair 1000+ v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)
Prepair 1000+ v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)
Prepair 1000+ v0.0 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)
Prepair 1000+ v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive
Prepair 1000+ v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)
Prepair 1000+ v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Prepair 1000+ v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Prepair 1000+ v0.0 RAD50 Zornitza Stark gene: RAD50 was added
gene: RAD50 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, 613078 (3)
Prepair 1000+ v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)
Prepair 1000+ v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)
Prepair 1000+ v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)
Prepair 1000+ v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3)
Prepair 1000+ v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2, 607624 (3)
Prepair 1000+ v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)
Prepair 1000+ v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)
Prepair 1000+ v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Prepair 1000+ v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Prepair 1000+ v0.0 PYROXD1 Zornitza Stark gene: PYROXD1 was added
gene: PYROXD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive
Prepair 1000+ v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)
Prepair 1000+ v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Prepair 1000+ v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)
Prepair 1000+ v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Prepair 1000+ v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Prepair 1000+ v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)
Prepair 1000+ v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)
Prepair 1000+ v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
Prepair 1000+ v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)
Prepair 1000+ v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Prepair 1000+ v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Dejerine-Sottas disease, 145900 (3)
Prepair 1000+ v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
Prepair 1000+ v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)
Prepair 1000+ v0.0 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Prepair 1000+ v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)
Prepair 1000+ v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Prepair 1000+ v0.0 PRKRA Zornitza Stark gene: PRKRA was added
gene: PRKRA was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 25142429; 29279192
Phenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067
Prepair 1000+ v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3)
Prepair 1000+ v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
Prepair 1000+ v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Prepair 1000+ v0.0 PRDM5 Zornitza Stark gene: PRDM5 was added
gene: PRDM5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)
Prepair 1000+ v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive
Prepair 1000+ v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)
Prepair 1000+ v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Prepair 1000+ v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, #259440
Prepair 1000+ v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive
Prepair 1000+ v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)
Prepair 1000+ v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Prepair 1000+ v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
Prepair 1000+ v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Prepair 1000+ v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Prepair 1000+ v0.0 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
Prepair 1000+ v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
Prepair 1000+ v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Prepair 1000+ v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Prepair 1000+ v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
Prepair 1000+ v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
Prepair 1000+ v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Prepair 1000+ v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)
Prepair 1000+ v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Prepair 1000+ v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
Prepair 1000+ v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Prepair 1000+ v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, 215470 (3)
Prepair 1000+ v0.0 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Prepair 1000+ v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)
Prepair 1000+ v0.0 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
Prepair 1000+ v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)
Prepair 1000+ v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Prepair 1000+ v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)
Prepair 1000+ v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, 609220 (3)
Prepair 1000+ v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)
Prepair 1000+ v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3)
Prepair 1000+ v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Prepair 1000+ v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3, 610725 (3)
Prepair 1000+ v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
Prepair 1000+ v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Prepair 1000+ v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)
Prepair 1000+ v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)
Prepair 1000+ v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive
Prepair 1000+ v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Prepair 1000+ v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Prepair 1000+ v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
Prepair 1000+ v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Prepair 1000+ v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)
Prepair 1000+ v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)
Prepair 1000+ v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Prepair 1000+ v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive
Prepair 1000+ v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease, 266500 (3)
Prepair 1000+ v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)
Prepair 1000+ v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Prepair 1000+ v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Prepair 1000+ v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)
Prepair 1000+ v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)
Prepair 1000+ v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)
Prepair 1000+ v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
Prepair 1000+ v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Prepair 1000+ v0.0 PGAP1 Zornitza Stark gene: PGAP1 was added
gene: PGAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
Prepair 1000+ v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)
Prepair 1000+ v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)
Prepair 1000+ v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862
Prepair 1000+ v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110
Prepair 1000+ v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882
Prepair 1000+ v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872
Prepair 1000+ v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866
Prepair 1000+ v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Prepair 1000+ v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883
Prepair 1000+ v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859
Prepair 1000+ v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)
Prepair 1000+ v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870
Prepair 1000+ v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100
Prepair 1000+ v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 1000+ v0.0 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)
Prepair 1000+ v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
Prepair 1000+ v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Prepair 1000+ v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency
Prepair 1000+ v0.0 PDE6C Zornitza Stark gene: PDE6C was added
gene: PDE6C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6C were set to Cone dystrophy 4, 613093 (3)
Prepair 1000+ v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Prepair 1000+ v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)
Prepair 1000+ v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Prepair 1000+ v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)
Prepair 1000+ v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Prepair 1000+ v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)
Prepair 1000+ v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)
Prepair 1000+ v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)
Prepair 1000+ v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
Prepair 1000+ v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3)
Prepair 1000+ v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)
Prepair 1000+ v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)
Prepair 1000+ v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)
Prepair 1000+ v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive
Prepair 1000+ v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)
Prepair 1000+ v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)
Prepair 1000+ v0.0 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Prepair 1000+ v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)
Prepair 1000+ v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690 (3)
Prepair 1000+ v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)
Prepair 1000+ v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Prepair 1000+ v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)
Prepair 1000+ v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive
Prepair 1000+ v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)
Prepair 1000+ v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)
Prepair 1000+ v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
Prepair 1000+ v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, brown oculocutaneous, 203200 (3)
Prepair 1000+ v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)
Prepair 1000+ v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Prepair 1000+ v0.0 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive
Prepair 1000+ v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)
Prepair 1000+ v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive
Prepair 1000+ v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Prepair 1000+ v0.0 NT5C2 Zornitza Stark gene: NT5C2 was added
gene: NT5C2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)
Prepair 1000+ v0.0 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)
Prepair 1000+ v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3)
Prepair 1000+ v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Prepair 1000+ v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Prepair 1000+ v0.0 NPHS2 Zornitza Stark gene: NPHS2 was added
gene: NPHS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)
Prepair 1000+ v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)
Prepair 1000+ v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4, 606996 (3)
Prepair 1000+ v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)
Prepair 1000+ v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)
Prepair 1000+ v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)
Prepair 1000+ v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, 257220 (3)
Prepair 1000+ v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)
Prepair 1000+ v0.0 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)
Prepair 1000+ v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3)
Prepair 1000+ v0.0 NKX6-2 Zornitza Stark gene: NKX6-2 was added
gene: NKX6-2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
Prepair 1000+ v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
Prepair 1000+ v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
Prepair 1000+ v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)
Prepair 1000+ v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
Prepair 1000+ v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
Prepair 1000+ v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)
Prepair 1000+ v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
Prepair 1000+ v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
Prepair 1000+ v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, MIM #300912
Prepair 1000+ v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)
Prepair 1000+ v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
Prepair 1000+ v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Prepair 1000+ v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
Prepair 1000+ v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3)
Prepair 1000+ v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Prepair 1000+ v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)
Prepair 1000+ v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)
Prepair 1000+ v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Prepair 1000+ v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)
Prepair 1000+ v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
Prepair 1000+ v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDRG1 Zornitza Stark gene: NDRG1 was added
gene: NDRG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Prepair 1000+ v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease, 310600 (3)
Prepair 1000+ v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)
Prepair 1000+ v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Prepair 1000+ v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
Prepair 1000+ v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)
Prepair 1000+ v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Prepair 1000+ v0.0 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive
Prepair 1000+ v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)
Prepair 1000+ v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
Prepair 1000+ v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Prepair 1000+ v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)
Prepair 1000+ v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Prepair 1000+ v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)
Prepair 1000+ v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3)
Prepair 1000+ v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)
Prepair 1000+ v0.0 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)
Prepair 1000+ v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive
Prepair 1000+ v0.0 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
Prepair 1000+ v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)
Prepair 1000+ v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)
Prepair 1000+ v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Prepair 1000+ v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)
Prepair 1000+ v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Prepair 1000+ v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Prepair 1000+ v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)
Prepair 1000+ v0.0 MTMR2 Zornitza Stark gene: MTMR2 was added
gene: MTMR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Prepair 1000+ v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)
Prepair 1000+ v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)
Prepair 1000+ v0.0 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Prepair 1000+ v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)
Prepair 1000+ v0.0 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 30684668; 31463572
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#617675
Prepair 1000+ v0.0 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)
Prepair 1000+ v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)
Prepair 1000+ v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)
Prepair 1000+ v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Prepair 1000+ v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Prepair 1000+ v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Prepair 1000+ v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)
Prepair 1000+ v0.0 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
Prepair 1000+ v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)
Prepair 1000+ v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)
Prepair 1000+ v0.0 MMP21 Zornitza Stark gene: MMP21 was added
gene: MMP21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
Prepair 1000+ v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
Prepair 1000+ v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Prepair 1000+ v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Prepair 1000+ v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Prepair 1000+ v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Prepair 1000+ v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)
Prepair 1000+ v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Prepair 1000+ v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)
Prepair 1000+ v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)
Prepair 1000+ v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)
Prepair 1000+ v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)
Prepair 1000+ v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)
Prepair 1000+ v0.0 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)
Prepair 1000+ v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, 212066 (3)
Prepair 1000+ v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Prepair 1000+ v0.0 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive
Prepair 1000+ v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Prepair 1000+ v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)
Prepair 1000+ v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Prepair 1000+ v0.0 MERTK Zornitza Stark gene: MERTK was added
gene: MERTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to Retinitis pigmentosa 38, 613862 (3)
Prepair 1000+ v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2, 614976 (3)
Prepair 1000+ v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Prepair 1000+ v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Prepair 1000+ v0.0 MED23 Zornitza Stark gene: MED23 was added
gene: MED23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)
Prepair 1000+ v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Prepair 1000+ v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)
Prepair 1000+ v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)
Prepair 1000+ v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)
Prepair 1000+ v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)
Prepair 1000+ v0.0 MCM4 Zornitza Stark gene: MCM4 was added
gene: MCM4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
Prepair 1000+ v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, 613625 (3)
Prepair 1000+ v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
Prepair 1000+ v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Prepair 1000+ v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)
Prepair 1000+ v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)
Prepair 1000+ v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 (3)
Prepair 1000+ v0.0 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS were set to Interstitial lung and liver disease, 615486 (3)
Prepair 1000+ v0.0 MAPKBP1 Zornitza Stark gene: MAPKBP1 was added
gene: MAPKBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive
Prepair 1000+ v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)
Prepair 1000+ v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)
Prepair 1000+ v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)
Prepair 1000+ v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)
Prepair 1000+ v0.0 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MALT1 were set to Immunodeficiency 12, 615468 (3)
Prepair 1000+ v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Prepair 1000+ v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)
Prepair 1000+ v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
Prepair 1000+ v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177 (3)
Prepair 1000+ v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)
Prepair 1000+ v0.0 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
Prepair 1000+ v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)
Prepair 1000+ v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)
Prepair 1000+ v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3)
Prepair 1000+ v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)
Prepair 1000+ v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)
Prepair 1000+ v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII, 615179 (3)
Prepair 1000+ v0.0 LRIG2 Zornitza Stark gene: LRIG2 was added
gene: LRIG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)
Prepair 1000+ v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Prepair 1000+ v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)
Prepair 1000+ v0.0 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)
Prepair 1000+ v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome, 609628 (3)
Prepair 1000+ v0.0 LPIN1 Zornitza Stark gene: LPIN1 was added
gene: LPIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
Prepair 1000+ v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373 (3)
Prepair 1000+ v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, 616165 (3)
Prepair 1000+ v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Prepair 1000+ v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Prepair 1000+ v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody, 200500 (3)
Prepair 1000+ v0.0 LMAN1 Zornitza Stark gene: LMAN1 was added
gene: LMAN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMAN1 were set to Combined factor V and VIII deficiency, 227300 (3)
Prepair 1000+ v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, 616299 (3)
Prepair 1000+ v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3)
Prepair 1000+ v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)
Prepair 1000+ v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to Mental retardation, autosomal recessive 27, 614340 (3)
Prepair 1000+ v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)
Prepair 1000+ v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Prepair 1000+ v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)
Prepair 1000+ v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)
Prepair 1000+ v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
Prepair 1000+ v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, 614962 (3)
Prepair 1000+ v0.0 LDLRAP1 Zornitza Stark gene: LDLRAP1 was added
gene: LDLRAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Prepair 1000+ v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial
Prepair 1000+ v0.0 LDHB Zornitza Stark gene: LDHB was added
gene: LDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDHB were set to 6383647
Phenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, MIM# 614128
Prepair 1000+ v0.0 LDHA Zornitza Stark gene: LDHA was added
gene: LDHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI, 612933 (3)
Prepair 1000+ v0.0 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, 245900 (3)
Prepair 1000+ v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)
Prepair 1000+ v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia, 215140 (3)
Prepair 1000+ v0.0 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27522155; 27242165
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Prepair 1000+ v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4, 615300 (3)
Prepair 1000+ v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Prepair 1000+ v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to Alazami syndrome, 615071 (3)
Prepair 1000+ v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Prepair 1000+ v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, 614115 (3)
Prepair 1000+ v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 1000+ v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 1000+ v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)
Prepair 1000+ v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)
Prepair 1000+ v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 1000+ v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Prepair 1000+ v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, 615960 (3)
Prepair 1000+ v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)
Prepair 1000+ v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)
Prepair 1000+ v0.0 KY Zornitza Stark gene: KY was added
gene: KY was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
Prepair 1000+ v0.0 KRT85 Zornitza Stark gene: KRT85 was added
gene: KRT85 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Prepair 1000+ v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 1000+ v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 1000+ v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive
Prepair 1000+ v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41, 615637 (3)
Prepair 1000+ v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, 604321 (3)
Prepair 1000+ v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to PERCHING syndrome, 617055 (3)
Prepair 1000+ v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)
Prepair 1000+ v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 (3)
Prepair 1000+ v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)
Prepair 1000+ v0.0 KIF1C Zornitza Stark gene: KIF1C was added
gene: KIF1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302 (3)
Prepair 1000+ v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Prepair 1000+ v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)
Prepair 1000+ v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, 617914 (3)
Prepair 1000+ v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
Prepair 1000+ v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
Prepair 1000+ v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Prepair 1000+ v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Prepair 1000+ v0.0 KCNV2 Zornitza Stark gene: KCNV2 was added
gene: KCNV2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B, 610356 (3)
Prepair 1000+ v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)
Prepair 1000+ v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Prepair 1000+ v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, 612780 (3)
Prepair 1000+ v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)
Prepair 1000+ v0.0 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)
Prepair 1000+ v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease, 601214 (3)
Prepair 1000+ v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
Prepair 1000+ v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Prepair 1000+ v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
Prepair 1000+ v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)
Prepair 1000+ v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive
Prepair 1000+ v0.0 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, 613011 (3)
Prepair 1000+ v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Prepair 1000+ v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)
Prepair 1000+ v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Prepair 1000+ v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
Prepair 1000+ v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Prepair 1000+ v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
Prepair 1000+ v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)
Prepair 1000+ v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254 (3)
Prepair 1000+ v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)
Prepair 1000+ v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism, 246200 (3)
Prepair 1000+ v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia, 258480 (3)
Prepair 1000+ v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
Prepair 1000+ v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)
Prepair 1000+ v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Prepair 1000+ v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)
Prepair 1000+ v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, 612852 (3)
Prepair 1000+ v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)
Prepair 1000+ v0.0 IL17RA Zornitza Stark gene: IL17RA was added
gene: IL17RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive
Prepair 1000+ v0.0 IL12RB1 Zornitza Stark gene: IL12RB1 was added
gene: IL12RB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)
Prepair 1000+ v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies, 614188 (3)
Prepair 1000+ v0.0 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10RB were set to 22549091
Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657
Prepair 1000+ v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
Prepair 1000+ v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Prepair 1000+ v0.0 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)
Prepair 1000+ v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Prepair 1000+ v0.0 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3)
Prepair 1000+ v0.0 IGFBP7 Zornitza Stark gene: IGFBP7 was added
gene: IGFBP7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
Prepair 1000+ v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3)
Prepair 1000+ v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
Prepair 1000+ v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
Prepair 1000+ v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Prepair 1000+ v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330 (3)
Prepair 1000+ v0.0 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, 614889 (3)
Prepair 1000+ v0.0 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Prepair 1000+ v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
Prepair 1000+ v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)
Prepair 1000+ v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)
Prepair 1000+ v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, 607594 (3)
Prepair 1000+ v0.0 IBA57 Zornitza Stark gene: IBA57 was added
gene: IBA57 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive
Prepair 1000+ v0.0 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Prepair 1000+ v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
Prepair 1000+ v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)
Prepair 1000+ v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5, 608647 (3)
Prepair 1000+ v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Prepair 1000+ v0.0 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
Prepair 1000+ v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800 (3)
Prepair 1000+ v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233 (3)
Prepair 1000+ v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, 607765 (3)
Prepair 1000+ v0.0 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Prepair 1000+ v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)
Prepair 1000+ v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease
Prepair 1000+ v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1, 236730 (3)
Prepair 1000+ v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)
Prepair 1000+ v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)
Prepair 1000+ v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)
Prepair 1000+ v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)
Prepair 1000+ v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)
Prepair 1000+ v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)
Prepair 1000+ v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Cranioosteoarthropathy, 259100 (3)
Prepair 1000+ v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)