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Prepair 1000+ v1.491 DNMT3B Zornitza Stark Marked gene: DNMT3B as ready
Prepair 1000+ v1.491 DNMT3B Zornitza Stark Gene: dnmt3b has been classified as Green List (High Evidence).
Prepair 1000+ v1.491 DONSON Zornitza Stark Marked gene: DONSON as ready
Prepair 1000+ v1.491 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Prepair 1000+ v1.491 DONSON Zornitza Stark Phenotypes for gene: DONSON were changed from Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive to Microcephaly-micromelia syndrome (MIM#251230); Microcephaly, short stature, and limb abnormalities (MIM#617604)
Prepair 1000+ v1.490 DONSON Zornitza Stark Publications for gene: DONSON were set to
Prepair 1000+ v1.489 COX15 Zornitza Stark Marked gene: COX15 as ready
Prepair 1000+ v1.489 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Prepair 1000+ v1.489 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) to Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119
Prepair 1000+ v1.488 COX15 Zornitza Stark Publications for gene: COX15 were set to
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Marked gene: CTPS1 as ready
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Gene: ctps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.487 CTPS1 Zornitza Stark Publications for gene: CTPS1 were set to
Prepair 1000+ v1.486 CTPS1 Kate Scarff reviewed gene: CTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24870241; Phenotypes: Immunodeficiency 24, MIM #615897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 COX15 Kate Scarff reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15235026, 12474143, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DONSON Crystle Lee reviewed gene: DONSON: Rating: GREEN; Mode of pathogenicity: None; Publications: 31191207, 29760432; Phenotypes: Microcephaly-micromelia syndrome (MIM#251230), Microcephaly, short stature, and limb abnormalities (MIM#617604); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNMT3B Crystle Lee reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNAJC19 Crystle Lee reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 35611801, 27928778; Phenotypes: 3-methylglutaconic aciduria, type V (MIM#610198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DLD Crystle Lee reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 39040027; Phenotypes: Dihydrolipoamide dehydrogenase deficiency (MIM#246900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DDC Crystle Lee reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aromatic L-amino acid decarboxylase deficiency 608643Aromatic L-amino acid decarboxylase deficiency (MIM#608643); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DARS2 Crystle Lee reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35820270; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 COL27A1 Crystle Lee changed review comment from: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature,
hip dislocation, radial head dislocation, and carpal coalition; to: Steel syndrome is cause by biallelic loss-of-function variants. This condition is characterized by short stature, hip dislocation, radial head dislocation, and carpal coalition
Prepair 1000+ v1.486 COL27A1 Crystle Lee reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32360765, 33963180; Phenotypes: Steel syndrome (MIM#615155); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CLRN1 Crystle Lee reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23304067, 35481838; Phenotypes: Usher syndrome, type 3A (MIM#276902); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 GFPT1 Andrew Coventry reviewed gene: GFPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21310273 30635494 2131027 23794683; Phenotypes: Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 FOLR1 Andrew Coventry reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732866 30420205 27743887; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency MIM#613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 FANCF Andrew Coventry reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615118 31288759 20301575; Phenotypes: Fanconi anemia, complementation group F MIM#603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 EXTL3 Andrew Coventry reviewed gene: EXTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132690 28148688 28331220 38010729 35114981; Phenotypes: Immunoskeletal dysplasia with neurodevelopmental abnormalities MIM#617425; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DNAAF3 Andrew Coventry reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996 32622824 31186518 33577779 39004944 35869935 39289782 38296613 32502479 33479112; Phenotypes: Ciliary dyskinesia, primary, 2 MIM#606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 TANGO2 Lucy Spencer reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SUCLA2 Lucy Spencer reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) MIM#612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SPINK5 Lucy Spencer reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM#256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SPG11 Lucy Spencer changed review comment from: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).; to: OMIM:
Charcot-Marie-Tooth disease type 2X (CMT2X) is an autosomal recessive, slowly progressive, axonal peripheral sensorimotor neuropathy characterized by lower limb muscle weakness and atrophy associated with distal sensory impairment and gait difficulties. Some patients also have involvement of the upper limbs. Onset usually occurs in the first 2 decades of life, although later onset can also occur (summary by Montecchiani et al., 2016). Mean age of onset 11.4 years.

Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.

ClinGen lumps all 3 conditions under spastic paraplegia 11

Autosomal recessive juvenile amyotrophic lateral sclerosis-5 (ALS5) is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).
Prepair 1000+ v1.486 SPG11 Lucy Spencer reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive MIM#604360, Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SH3TC2 Lucy Spencer reviewed gene: SH3TC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SEMA4A Lucy Spencer reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 SCYL1 Lucy Spencer reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 MIM#616719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RTN4IP1 Lucy Spencer reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RLIM Lucy Spencer reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tonne-Kalscheuer syndrome MIM#300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.486 REN Lucy Spencer reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 REEP6 Lucy Spencer reviewed gene: REEP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 77 MIM#617304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 RAPSN Lucy Spencer reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17594401; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326, Fetal akinesia deformation sequence 2 MIM#618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCDC40 Michelle Torres reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131974, 31650533; Phenotypes: Ciliary dyskinesia, primary, 15 MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCDC39 Michelle Torres reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: 21131972; Phenotypes: Ciliary dyskinesia, primary, 14 MIM#613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CCBE1 Michelle Torres reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 1 MIM#235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CASR Michelle Torres reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22620673, 26646938; Phenotypes: Hyperparathyroidism, neonatal MIM#239200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 BOLA3 Michelle Torres reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 BBS9 Michelle Torres reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33771153, 31283077; Phenotypes: Bardet-Biedl syndrome 9 MIM#615986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 ANKS6 Michelle Torres reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31678577, 23793029, 31635528, 24610927, 37525964; Phenotypes: Nephronophthisis 16 MIM#615382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 AHI1 Michelle Torres reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155189, 20301500; Phenotypes: Joubert syndrome 3 MIM#608629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200; 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+ v1.486 DMD Andrew Coventry Deleted their review
Prepair 1000+ v1.486 DMD Andrew Coventry reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298 16770791; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200, Cardiomyopathy, dilated, 3B MIM#302045; 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+ v1.486 DDR2 Andrew Coventry reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212 20223752 8434618 20223752 8465857; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type MIM#271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTSA Andrew Coventry reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968752 18391110 7759227 6812049 28603679 8838767 19466716 16674934 23915561 26036949 24769197 28555253 15110321 27243974; Phenotypes: Galactosialidosis MIM#256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 CTNS Andrew Coventry reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26523297 20301574 25165189 9537412 10625078 30554218 12370309; Phenotypes: Cystinosis, nephropathic MIM#219800, Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, atypical nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.486 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Prepair 1000+ v1.486 INPP5E Zornitza Stark Gene: inpp5e has been classified as Green List (High Evidence).
Prepair 1000+ v1.486 INPP5E Zornitza Stark Phenotypes for gene: INPP5E were changed from Joubert syndrome 1, 213300 (3) to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423
Prepair 1000+ v1.485 INPP5E Zornitza Stark Publications for gene: INPP5E were set to
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.484 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, 612780 (3) to SESAME syndrome, MIM# 612780; EAST syndrome, MONDO:0013005
Prepair 1000+ v1.483 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Marked gene: RECQL4 as ready
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.482 RECQL4 Zornitza Stark Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600 (3) to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400
Prepair 1000+ v1.481 RECQL4 Zornitza Stark Publications for gene: RECQL4 were set to
Prepair 1000+ v1.480 KPTN Zornitza Stark Marked gene: KPTN as ready
Prepair 1000+ v1.480 KPTN Zornitza Stark Gene: kptn has been classified as Green List (High Evidence).
Prepair 1000+ v1.480 KPTN Zornitza Stark Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41, 615637 (3) to Intellectual developmental disorder, autosomal recessive 41 (MIM#615637)
Prepair 1000+ v1.479 KPTN Zornitza Stark Publications for gene: KPTN were set to
Prepair 1000+ v1.478 KRT10 Zornitza Stark Marked gene: KRT10 as ready
Prepair 1000+ v1.478 KRT10 Zornitza Stark Gene: krt10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.478 KRT10 Zornitza Stark Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive to Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707; MONDO:0700245
Prepair 1000+ v1.477 KRT10 Zornitza Stark Publications for gene: KRT10 were set to
Prepair 1000+ v1.476 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Prepair 1000+ v1.476 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Prepair 1000+ v1.476 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976
Prepair 1000+ v1.475 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Prepair 1000+ v1.474 ADA Zornitza Stark Marked gene: ADA as ready
Prepair 1000+ v1.474 ADA Zornitza Stark Gene: ada has been classified as Green List (High Evidence).
Prepair 1000+ v1.474 ADA Zornitza Stark Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial, 102700 (3) to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700
Prepair 1000+ v1.473 ADA Zornitza Stark Publications for gene: ADA were set to
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.472 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to
Prepair 1000+ v1.471 ADAMTSL2 Michelle Torres reviewed gene: ADAMTSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301776, 38300707; Phenotypes: Geleophysic dysplasia 1 MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.471 ADA Michelle Torres reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301656, 8673127; Phenotypes: Severe combined immunodeficiency due to ADA deficiency MIM#102700 AR, Smo, Adenosine deaminase deficiency, partial MIM#102700 AR,SMo.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.471 LAT Zornitza Stark Marked gene: LAT as ready
Prepair 1000+ v1.471 LAT Zornitza Stark Gene: lat has been classified as Green List (High Evidence).
Prepair 1000+ v1.471 LAT Zornitza Stark Publications for gene: LAT were set to 27522155; 27242165
Prepair 1000+ v1.470 LAT Zornitza Stark reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 52, MIM# 617514, severe combined immunodeficiency due to LAT deficiency MONDO:0044721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 LAT Marta Cifuentes Ochoa reviewed gene: LAT: Rating: ; Mode of pathogenicity: None; Publications: 27353087, 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514, severe combined immunodeficiency due to LAT deficiency MONDO:0044721; Mode of inheritance: None
Prepair 1000+ v1.470 KRT14 Marta Cifuentes Ochoa reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 29024068; Phenotypes: Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001, MONDO:0010976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KRT10 Marta Cifuentes Ochoa reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16505000; Phenotypes: Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707, MONDO:0700245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KPTN Marta Cifuentes Ochoa reviewed gene: KPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24239382, 32358097, 32808430; Phenotypes: Intellectual developmental disorder, autosomal recessive 41 (MIM#615637); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 RECQL4 Shakira Heerah changed review comment from: Rothmund-Thomson Syndrome, Type 2
- Osteosarcoma in 23 patients
RAPADILINO Syndrome
- 10 finnish families
○ Short stature
○ Radial ray defects
○ Infantile diarrhoea
- No significant cancer risk

Baller-Gerold Syndrome
- Radial aplasia/hypoplasia
- Craniosynostosis

Clinical overlap between all three phenotypes
Most cases in infancy and childhood
Severe phenotype: neonatal death, respiratory failure
Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607); to: Rothmund-Thomson Syndrome, Type 2
- Osteosarcoma in 23 patients

RAPADILINO Syndrome
- 10 finnish families
○ Short stature
○ Radial ray defects
○ Infantile diarrhoea
- No significant cancer risk

Baller-Gerold Syndrome
- Radial aplasia/hypoplasia
- Craniosynostosis

Clinical overlap between all three phenotypes
Most cases in infancy and childhood
Severe phenotype: neonatal death, respiratory failure
Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607)
Prepair 1000+ v1.470 RECQL4 Shakira Heerah reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39315607, 39324487, 12952869, 15964893, 10319867, 12734318; Phenotypes: Baller-Gerold syndrome, MIM# 218600, RAPADILINO syndrome, MIM# 266280, Rothmund-Thomson syndrome, type 2,MIM# 268400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 KCNJ10 Marta Cifuentes Ochoa reviewed gene: KCNJ10: Rating: ; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414, 38979912; Phenotypes: SESAME syndrome, MIM# 612780, EAST syndrome, MONDO:0013005, Enlarged vestibular aqueduct, digenic, MIM#600791, autosomal recessive nonsyndromic hearing loss 4, MONDO:0010933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 INPP5E Marta Cifuentes Ochoa reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215, 34211432; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 HYAL1 Marta Cifuentes Ochoa reviewed gene: HYAL1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 1033958, 18344557, 21559944; Phenotypes: Mucopolysaccharidosis type IX, MIM# 601492, MONDO:0011093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.470 WDR60 Lilian Downie Marked gene: WDR60 as ready
Prepair 1000+ v1.470 WDR60 Lilian Downie Gene: wdr60 has been classified as Green List (High Evidence).
Prepair 1000+ v1.470 WDR60 Lilian Downie Publications for gene: WDR60 were set to
Prepair 1000+ v1.469 YARS2 Lilian Downie Marked gene: YARS2 as ready
Prepair 1000+ v1.469 YARS2 Lilian Downie Gene: yars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.469 YARS2 Lilian Downie Publications for gene: YARS2 were set to
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Marked gene: ZFYVE26 as ready
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Gene: zfyve26 has been classified as Green List (High Evidence).
Prepair 1000+ v1.468 ZFYVE26 Lilian Downie Publications for gene: ZFYVE26 were set to
Prepair 1000+ v1.467 AGBL5 Lilian Downie Marked gene: AGBL5 as ready
Prepair 1000+ v1.467 AGBL5 Lilian Downie Gene: agbl5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.467 AGBL5 Lilian Downie Phenotypes for gene: AGBL5 were changed from Retinitis pigmentosa 75, 617023 (3), Autosomal recessive to Retinitis pigmentosa 75, 617023
Prepair 1000+ v1.466 AGBL5 Lilian Downie Publications for gene: AGBL5 were set to
Prepair 1000+ v1.465 AGT Lilian Downie Marked gene: AGT as ready
Prepair 1000+ v1.465 AGT Lilian Downie Gene: agt has been classified as Green List (High Evidence).
Prepair 1000+ v1.465 AGT Lilian Downie Publications for gene: AGT were set to
Prepair 1000+ v1.464 AIMP1 Lilian Downie Marked gene: AIMP1 as ready
Prepair 1000+ v1.464 AIMP1 Lilian Downie Gene: aimp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.464 AIMP1 Lilian Downie Publications for gene: AIMP1 were set to
Prepair 1000+ v1.463 ASL Lilian Downie Marked gene: ASL as ready
Prepair 1000+ v1.463 ASL Lilian Downie Gene: asl has been classified as Green List (High Evidence).
Prepair 1000+ v1.463 ASL Lilian Downie Publications for gene: ASL were set to
Prepair 1000+ v1.462 ATCAY Lilian Downie Marked gene: ATCAY as ready
Prepair 1000+ v1.462 ATCAY Lilian Downie Gene: atcay has been classified as Green List (High Evidence).
Prepair 1000+ v1.462 ATCAY Lilian Downie Publications for gene: ATCAY were set to
Prepair 1000+ v1.461 CDC45 Lilian Downie Marked gene: CDC45 as ready
Prepair 1000+ v1.461 CDC45 Lilian Downie Gene: cdc45 has been classified as Green List (High Evidence).
Prepair 1000+ v1.461 CDC45 Lilian Downie Phenotypes for gene: CDC45 were changed from Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive to Meier-Gorlin syndrome 7, 617063
Prepair 1000+ v1.460 CDC45 Lilian Downie Publications for gene: CDC45 were set to
Prepair 1000+ v1.459 CHAT Lilian Downie Marked gene: CHAT as ready
Prepair 1000+ v1.459 CHAT Lilian Downie Gene: chat has been classified as Green List (High Evidence).
Prepair 1000+ v1.459 CHAT Lilian Downie Publications for gene: CHAT were set to
Prepair 1000+ v1.458 CIT Lilian Downie Marked gene: CIT as ready
Prepair 1000+ v1.458 CIT Lilian Downie Gene: cit has been classified as Green List (High Evidence).
Prepair 1000+ v1.458 CIT Lilian Downie Publications for gene: CIT were set to
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Marked gene: CNTNAP2 as ready
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Gene: cntnap2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.457 CNTNAP2 Lilian Downie Phenotypes for gene: CNTNAP2 were changed from Cortical dysplasia-focal epilepsy syndrome, 610042 (3) to Pitt-Hopkins like syndrome 1 MIM#610042
Prepair 1000+ v1.456 CNTNAP2 Lilian Downie Publications for gene: CNTNAP2 were set to
Prepair 1000+ v1.455 COG5 Lilian Downie Marked gene: COG5 as ready
Prepair 1000+ v1.455 COG5 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.455 COG5 Lilian Downie Gene: cog5 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.455 COG5 Lilian Downie Tag for review tag was added to gene: COG5.
Prepair 1000+ v1.455 CABP4 Lilian Downie Marked gene: CABP4 as ready
Prepair 1000+ v1.455 CABP4 Lilian Downie Gene: cabp4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.455 CABP4 Lilian Downie Publications for gene: CABP4 were set to 16960802; 19074807; 20157620
Prepair 1000+ v1.455 CABP4 Lilian Downie Publications for gene: CABP4 were set to
Prepair 1000+ v1.454 CAPN3 Lilian Downie Marked gene: CAPN3 as ready
Prepair 1000+ v1.454 CAPN3 Lilian Downie Gene: capn3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.454 CAPN3 Lilian Downie Publications for gene: CAPN3 were set to
Prepair 1000+ v1.453 CLPP Lilian Downie Marked gene: CLPP as ready
Prepair 1000+ v1.453 CLPP Lilian Downie Gene: clpp has been classified as Green List (High Evidence).
Prepair 1000+ v1.453 CLPP Lilian Downie Publications for gene: CLPP were set to
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Marked gene: DNAAF5 as ready
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Gene: dnaaf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.452 DNAAF5 Lilian Downie Publications for gene: DNAAF5 were set to
Prepair 1000+ v1.451 COL11A1 Lilian Downie Marked gene: COL11A1 as ready
Prepair 1000+ v1.451 COL11A1 Lilian Downie Gene: col11a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.451 COL11A1 Lilian Downie Publications for gene: COL11A1 were set to
Prepair 1000+ v1.450 CRLF1 Lilian Downie Marked gene: CRLF1 as ready
Prepair 1000+ v1.450 CRLF1 Lilian Downie Gene: crlf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.450 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252
Prepair 1000+ v1.450 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to 12509788; 17436251; 17436252
Prepair 1000+ v1.449 CRLF1 Lilian Downie Publications for gene: CRLF1 were set to
Prepair 1000+ v1.448 CTC1 Lilian Downie Marked gene: CTC1 as ready
Prepair 1000+ v1.448 CTC1 Lilian Downie Gene: ctc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.448 CTC1 Lilian Downie Publications for gene: CTC1 were set to
Prepair 1000+ v1.447 CYBB Lilian Downie Marked gene: CYBB as ready
Prepair 1000+ v1.447 CYBB Lilian Downie Gene: cybb has been classified as Green List (High Evidence).
Prepair 1000+ v1.447 CYBB Lilian Downie Publications for gene: CYBB were set to
Prepair 1000+ v1.446 EML1 Lilian Downie Marked gene: EML1 as ready
Prepair 1000+ v1.446 EML1 Lilian Downie Gene: eml1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.446 EML1 Lilian Downie Publications for gene: EML1 were set to
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Marked gene: CYP1B1 as ready
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Gene: cyp1b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.445 CYP1B1 Lilian Downie Phenotypes for gene: CYP1B1 were changed from Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300; Anterior segment dysgenesis 6, multiple subtypes, MIM#617315
Prepair 1000+ v1.444 CYP1B1 Lilian Downie Publications for gene: CYP1B1 were set to
Prepair 1000+ v1.443 ECEL1 Lilian Downie Marked gene: ECEL1 as ready
Prepair 1000+ v1.443 ECEL1 Lilian Downie Gene: ecel1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.443 ECEL1 Lilian Downie Publications for gene: ECEL1 were set to
Prepair 1000+ v1.442 ETHE1 Lilian Downie Marked gene: ETHE1 as ready
Prepair 1000+ v1.442 ETHE1 Lilian Downie Gene: ethe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.442 ETHE1 Lilian Downie Publications for gene: ETHE1 were set to
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Marked gene: EXOSC8 as ready
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Gene: exosc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.441 EXOSC8 Lilian Downie Publications for gene: EXOSC8 were set to
Prepair 1000+ v1.440 FANCG Lilian Downie Marked gene: FANCG as ready
Prepair 1000+ v1.440 FANCG Lilian Downie Gene: fancg has been classified as Green List (High Evidence).
Prepair 1000+ v1.440 FANCG Lilian Downie Publications for gene: FANCG were set to
Prepair 1000+ v1.439 FANCI Lilian Downie Marked gene: FANCI as ready
Prepair 1000+ v1.439 FANCI Lilian Downie Gene: fanci has been classified as Green List (High Evidence).
Prepair 1000+ v1.439 FANCI Lilian Downie Publications for gene: FANCI were set to
Prepair 1000+ v1.438 FBLN5 Lilian Downie Marked gene: FBLN5 as ready
Prepair 1000+ v1.438 FBLN5 Lilian Downie Gene: fbln5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.438 FBLN5 Lilian Downie Publications for gene: FBLN5 were set to
Prepair 1000+ v1.437 FLNB Lilian Downie Marked gene: FLNB as ready
Prepair 1000+ v1.437 FLNB Lilian Downie Gene: flnb has been classified as Green List (High Evidence).
Prepair 1000+ v1.437 FLNB Lilian Downie Publications for gene: FLNB were set to
Prepair 1000+ v1.436 GALNS Lilian Downie Marked gene: GALNS as ready
Prepair 1000+ v1.436 GALNS Lilian Downie Gene: galns has been classified as Green List (High Evidence).
Prepair 1000+ v1.436 GALNS Lilian Downie Publications for gene: GALNS were set to
Prepair 1000+ v1.435 GPHN Lilian Downie Marked gene: GPHN as ready
Prepair 1000+ v1.435 GPHN Lilian Downie Gene: gphn has been classified as Green List (High Evidence).
Prepair 1000+ v1.435 GPHN Lilian Downie Publications for gene: GPHN were set to
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Marked gene: HSD3B2 as ready
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Gene: hsd3b2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.434 HSD3B2 Lilian Downie Phenotypes for gene: HSD3B2 were changed from 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810
Prepair 1000+ v1.433 HSD3B2 Lilian Downie Publications for gene: HSD3B2 were set to
Prepair 1000+ v1.432 HTRA2 Lilian Downie Marked gene: HTRA2 as ready
Prepair 1000+ v1.432 HTRA2 Lilian Downie Gene: htra2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.432 HTRA2 Lilian Downie Publications for gene: HTRA2 were set to
Prepair 1000+ v1.431 HUWE1 Lilian Downie Marked gene: HUWE1 as ready
Prepair 1000+ v1.431 HUWE1 Lilian Downie Gene: huwe1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.431 HUWE1 Lilian Downie Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type, 300706 (3) to Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590
Prepair 1000+ v1.430 HUWE1 Lilian Downie Publications for gene: HUWE1 were set to
Prepair 1000+ v1.429 IFT122 Lilian Downie Marked gene: IFT122 as ready
Prepair 1000+ v1.429 IFT122 Lilian Downie Gene: ift122 has been classified as Green List (High Evidence).
Prepair 1000+ v1.429 IFT122 Lilian Downie Publications for gene: IFT122 were set to
Prepair 1000+ v1.428 KIF1BP Lilian Downie Marked gene: KIF1BP as ready
Prepair 1000+ v1.428 KIF1BP Lilian Downie Gene: kif1bp has been classified as Green List (High Evidence).
Prepair 1000+ v1.428 KIF1BP Lilian Downie Publications for gene: KIF1BP were set to
Prepair 1000+ v1.427 ITGB4 Lilian Downie Marked gene: ITGB4 as ready
Prepair 1000+ v1.427 ITGB4 Lilian Downie Gene: itgb4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.427 ITGB4 Lilian Downie Publications for gene: ITGB4 were set to
Prepair 1000+ v1.426 KLHL41 Lilian Downie Marked gene: KLHL41 as ready
Prepair 1000+ v1.426 KLHL41 Lilian Downie Gene: klhl41 has been classified as Green List (High Evidence).
Prepair 1000+ v1.426 KLHL41 Lilian Downie Publications for gene: KLHL41 were set to
Prepair 1000+ v1.425 COL18A1 Lilian Downie Marked gene: COL18A1 as ready
Prepair 1000+ v1.425 COL18A1 Lilian Downie Gene: col18a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.425 COL18A1 Lilian Downie Publications for gene: COL18A1 were set to
Prepair 1000+ v1.424 COL6A1 Lilian Downie Marked gene: COL6A1 as ready
Prepair 1000+ v1.424 COL6A1 Lilian Downie Gene: col6a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.424 COL6A1 Lilian Downie Publications for gene: COL6A1 were set to
Prepair 1000+ v1.423 CPS1 Lilian Downie Marked gene: CPS1 as ready
Prepair 1000+ v1.423 CPS1 Lilian Downie Gene: cps1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.423 CPS1 Lilian Downie Publications for gene: CPS1 were set to
Prepair 1000+ v1.422 PEX3 Lilian Downie Marked gene: PEX3 as ready
Prepair 1000+ v1.422 PEX3 Lilian Downie Gene: pex3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.422 PEX3 Lilian Downie Phenotypes for gene: PEX3 were changed from Peroxisome biogenesis disorder 10A (Zellweger), 614882 to Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882; Peroxisome biogenesis disorder 10B MIM#617370; Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261
Prepair 1000+ v1.421 PEX3 Lilian Downie Publications for gene: PEX3 were set to
Prepair 1000+ v1.420 PEX3 Lucy Spencer reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882, Peroxisome biogenesis disorder 10B MIM#617370, Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CPS1 Andrew Coventry reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760 17310273 21120950 9862865 29801986 27834067 27150549 22173106; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL6A1 Andrew Coventry reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301676 25535305 15955946 23738969 29277723 24443028; Phenotypes: Ullrich congenital muscular dystrophy 1A MIM#254090; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL18A1 Andrew Coventry reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27259167 25456301 30007336; Phenotypes: Knobloch syndrome, type 1 MIM#267750; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.420 KLHL41 Lisa Norbart reviewed gene: KLHL41: Rating: GREEN; Mode of pathogenicity: None; Publications: 24268659, 24268659, 30986853, 28939701, 28826497; Phenotypes: Nemaline myopathy 9, MIM#615731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 KIF1BP Lisa Norbart reviewed gene: KIF1BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23427148, 15883926; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ITGB4 Lisa Norbart reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32017015, 11328943, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 IFT122 Lisa Norbart reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20817137, 20493458, 23826986, 26792575, 29220510, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM#218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 HUWE1 Lisa Norbart reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29180823, 7943042, 27130160; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590; 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+ v1.420 HTRA2 Lisa Norbart reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208207, 27696117; Phenotypes: 3-methylglutaconic aciduria, type VIII, MIM#617248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 HSD3B2 Lisa Norbart reviewed gene: HSD3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33757164, 1363812; Phenotypes: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 GPHN Lisa Norbart reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22040219, 11095995, 12754701; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 GALNS Lisa Norbart reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823, 23137060, 18412124; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FLNB Lisa Norbart reviewed gene: FLNB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29566257, 22190451, 17360453, 20301736; Phenotypes: Spondylocarpotarsal synostosis syndrome, MIM#272460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FBLN5 Lisa Norbart reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 3232707, 22829427, 31945625, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FANCI Lisa Norbart reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773, 20301575, 26590883; Phenotypes: Fanconi anemia, complementation group I, MIM#609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 FANCG Lisa Norbart reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9806548, 12552564; Phenotypes: Fanconi anemia, complementation group G, MIM#614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 EXOSC8 Cassandra Muller reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38017281; Phenotypes: Pontocerebellar hypoplasia, type 1C, 616081 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ETHE1 Lisa Norbart reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy, MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ECEL1 Lisa Norbart reviewed gene: ECEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261301, 23236030, 25099528, 24782201; Phenotypes: Arthrogryposis, distal, type 5D, MIM#615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CYP1B1 Lisa Norbart reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9463332, 10655546, 12372064, 21081970; Phenotypes: Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300, Anterior segment dysgenesis 6, multiple subtypes, MIM#617315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 EML1 Cassandra Muller reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31710781; Phenotypes: Band heterotopia, 600348 (3), Autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CYBB Lisa Norbart reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2556453, 1710153, 9585602; Phenotypes: Chronic granulomatous disease, X-linked, MIM#306400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CTC1 Lisa Norbart reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM#612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CRLF1 Lisa Norbart reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COL11A1 Lisa Norbart reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035103, 32427345; Phenotypes: Fibrochondrogenesis 1, MIM#228520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 DNAAF5 Cassandra Muller reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23040496, 25232951, 29363216; Phenotypes: Ciliary dyskinesia, primary, 18, 614874 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CLPP Lisa Norbart reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CAPN3 Lisa Norbart reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31937337, 28881388, 32342993; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CABP4 Lisa Norbart reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 COG5 Andrew Coventry reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021 31572517 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi MIM#613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CNTNAP2 Andrew Coventry reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880 19896112 27439707 37183190 30762603; Phenotypes: Pitt-Hopkins like syndrome 1 MIM#610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CIT Andrew Coventry reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453578 27503289 27453579 27519304; Phenotypes: Microcephaly 17, primary, autosomal recessive MIM#617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CHAT Andrew Coventry reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11172068 12756141 31192527 29518833 29189923; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic MIM#254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 CDC45 Andrew Coventry reviewed gene: CDC45: Rating: GREEN; Mode of pathogenicity: None; Publications: 31474763 27374770 30986546 33639314 34000999 11416137 21358631; Phenotypes: Meier-Gorlin syndrome 7 MIM#617063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 BGN Andrew Coventry reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531898; Phenotypes: Meester-Loeys syndrome MIM#300989 Spondyloepimetaphyseal dysplasia, X-linked MIM#300106; 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+ v1.420 ATCAY Andrew Coventry reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: None; Publications: 14556008 29449188 23226316 26343454 37752557; Phenotypes: Ataxia, cerebellar, Cayman type MIM#601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ASL Andrew Coventry edited their review of gene: ASL: Added comment: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ASL Andrew Coventry Deleted their comment
Prepair 1000+ v1.420 ASL Andrew Coventry changed review comment from: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association; to: Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association
Prepair 1000+ v1.420 ASL Andrew Coventry reviewed gene: ASL: Rating: ; Mode of pathogenicity: None; Publications: 2263616 12384776; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: None
Prepair 1000+ v1.420 AIMP1 Andrew Coventry reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922 24958424 33402283 32531460 30486714 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3 MIM#260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 AGT Andrew Coventry reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425 34234805 33163725; Phenotypes: Renal tubular dysgenesis MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 AGBL5 Andrew Coventry reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26720455 26355662 30925032 38078364 27842159; Phenotypes: Retinitis pigmentosa 75 MIM#617023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 ZFYVE26 Andrew Coventry reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 34057829 33033739; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 YARS2 Andrew Coventry reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573 24344687 32183361; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 WDR60 Andrew Coventry reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462 29271569 26874042 37228654; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly MIM#615503; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.420 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Meckel syndrome 7, 267010 (3) to Renal-hepatic-pancreatic dysplasia 1 MIM#208540; Meckel syndrome 7 MIM#267010; Nephronophthisis 3 MIM#604387
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Marked gene: NPHP1 as ready
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Gene: nphp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.419 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.418 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from Mitochondrial complex 1 deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 16 MIM#618238
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.417 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Marked gene: NDRG1 as ready
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Gene: ndrg1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.416 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from Charcot-Marie-Tooth disease, type 4D, 601455 (3) to Charcot-Marie-Tooth disease, type 4D MIM#601455
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Marked gene: MTMR2 as ready
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Gene: mtmr2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.415 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382 (3) to Charcot-Marie-Tooth disease, type 4B1, MIM#601382
Prepair 1000+ v1.414 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Prepair 1000+ v1.414 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Prepair 1000+ v1.414 MPDZ Zornitza Stark Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3) to Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219
Prepair 1000+ v1.413 MLYCD Zornitza Stark Marked gene: MLYCD as ready
Prepair 1000+ v1.413 MLYCD Zornitza Stark Gene: mlycd has been classified as Green List (High Evidence).
Prepair 1000+ v1.413 MLYCD Zornitza Stark Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency, 248360 (3) to Malonyl-CoA decarboxylase deficiency, MIM#248360
Prepair 1000+ v1.412 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Prepair 1000+ v1.412 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.412 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, 615084 (3) to Mitochondrial DNA depletion syndrome 11, MIM#615084
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Marked gene: LPIN2 as ready
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Gene: lpin2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.411 LPIN2 Zornitza Stark Phenotypes for gene: LPIN2 were changed from Majeed syndrome, 609628 (3) to Majeed syndrome MIM#609628
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.410 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Prepair 1000+ v1.409 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Prepair 1000+ v1.408 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Prepair 1000+ v1.408 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Prepair 1000+ v1.408 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358 (3) to GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000
Prepair 1000+ v1.407 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Prepair 1000+ v1.406 BCKDK Zornitza Stark Marked gene: BCKDK as ready
Prepair 1000+ v1.406 BCKDK Zornitza Stark Gene: bckdk has been classified as Green List (High Evidence).
Prepair 1000+ v1.406 BCKDK Zornitza Stark Publications for gene: BCKDK were set to
Prepair 1000+ v1.405 CLPB Zornitza Stark Marked gene: CLPB as ready
Prepair 1000+ v1.405 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Prepair 1000+ v1.405 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) to 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)
Prepair 1000+ v1.404 CLPB Zornitza Stark Publications for gene: CLPB were set to
Prepair 1000+ v1.403 TPM3 Zornitza Stark Marked gene: TPM3 as ready
Prepair 1000+ v1.403 TPM3 Zornitza Stark Gene: tpm3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.403 TPM3 Zornitza Stark Phenotypes for gene: TPM3 were changed from Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3) to Congenital myopathy 4B, autosomal recessive MIM#609284
Prepair 1000+ v1.402 TPM3 Zornitza Stark Publications for gene: TPM3 were set to
Prepair 1000+ v1.401 TPI1 Zornitza Stark Marked gene: TPI1 as ready
Prepair 1000+ v1.401 TPI1 Zornitza Stark Gene: tpi1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.401 TPI1 Zornitza Stark Phenotypes for gene: TPI1 were changed from Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512
Prepair 1000+ v1.400 TPI1 Zornitza Stark Publications for gene: TPI1 were set to
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Prepair 1000+ v1.399 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, 239000 (3) to Paget disease of bone 5, juvenile-onset MIM#239000
Prepair 1000+ v1.398 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Prepair 1000+ v1.397 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Prepair 1000+ v1.397 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.397 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive to Intellectual developmental disorder, X-linked 12 MIM#300957
Prepair 1000+ v1.396 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Marked gene: CLDN10 as ready
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.395 CLDN10 Zornitza Stark Phenotypes for gene: CLDN10 were changed from HELIX syndrome, 617671 (3), Autosomal recessive to HELIX syndrome, MIM#617671
Prepair 1000+ v1.394 CLDN10 Zornitza Stark Publications for gene: CLDN10 were set to
Prepair 1000+ v1.393 CLDN10 Zornitza Stark reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927623; Phenotypes: HELIX syndrome, MIM#617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.393 CFP Zornitza Stark Marked gene: CFP as ready
Prepair 1000+ v1.393 CFP Zornitza Stark Gene: cfp has been classified as Green List (High Evidence).
Prepair 1000+ v1.393 CFP Zornitza Stark Publications for gene: CFP were set to
Prepair 1000+ v1.392 CDH23 Zornitza Stark Marked gene: CDH23 as ready
Prepair 1000+ v1.392 CDH23 Zornitza Stark Gene: cdh23 has been classified as Green List (High Evidence).
Prepair 1000+ v1.392 CDH23 Zornitza Stark Phenotypes for gene: CDH23 were changed from Usher syndrome, type 1D, 601067 (3) to Usher syndrome, type 1D (MIM#601067)
Prepair 1000+ v1.391 CDH23 Zornitza Stark Publications for gene: CDH23 were set to
Prepair 1000+ v1.390 NUP62 Lucy Spencer reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NPHP3 Lucy Spencer reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1 MIM#208540, Meckel syndrome 7 MIM#267010, Nephronophthisis 3 MIM#604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NPHP1 Lucy Spencer reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 1, juvenile MIM#256100, Joubert syndrome 4 MIM#609583, Senior-Loken syndrome-1 MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NDUFAF5 Lucy Spencer reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16 MIM#618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 NDUFA1 Lucy Spencer reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 NDRG1 Lucy Spencer reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4D MIM#601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MTMR2 Lucy Spencer reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1 MIM#601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MPDZ Lucy Spencer reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MLYCD Lucy Spencer reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 MGME1 Lucy Spencer reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 11 MIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 LPIN2 Lucy Spencer reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Majeed syndrome MIM#609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BRAT1 Lisa Norbart reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546, 23035047, 25319849, 25500575; Phenotypes: Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BCS1L Lisa Norbart reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 17314340; Phenotypes: GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type 1, MIM#124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BCKDK Lisa Norbart reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: 22956686, 24449431; Phenotypes: Branched-chain keto acid dehydrogenase kinase deficiency, MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 CLPB Crystle Lee reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34140661; Phenotypes: 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TPM3 Andrew Coventry reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26418456 7704029 17376686 18382475 19487656 12196661 10619715; Phenotypes: Congenital myopathy 4B, autosomal recessive MIM#609284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TPI1 Andrew Coventry reviewed gene: TPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9338582 32873690 8503454; Phenotypes: Hemolytic anemia due to triosephosphate isomerase deficiency MIM#615512; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 TNFRSF11B Andrew Coventry reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25108083 34166796 29080812 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset MIM#239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 THOC2 Andrew Coventry reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26166480 32116545 29851191 32960281 34976470 37945483; Phenotypes: Intellectual developmental disorder, X-linked 12 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 CLDN10 Crystle Lee reviewed gene: CLDN10: Rating: AMBER; Mode of pathogenicity: None; Publications: 37984702, 31671507, 28674042; Phenotypes: HELIX syndrome (MIM#617671); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 CFP Crystle Lee reviewed gene: CFP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22229731, 10909851; Phenotypes: Properdin deficiency, X-linked (MIM#312060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.390 CDH23 Crystle Lee reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: None; Publications: 33316915; Phenotypes: Usher syndrome, type 1D (MIM#601067), Deafness, autosomal recessive 12 (MIM#601386); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.390 BBS10 Lilian Downie Marked gene: BBS10 as ready
Prepair 1000+ v1.390 BBS10 Lilian Downie Gene: bbs10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.390 BBS10 Lilian Downie Publications for gene: BBS10 were set to
Prepair 1000+ v1.389 BSCL2 Lilian Downie Marked gene: BSCL2 as ready
Prepair 1000+ v1.389 BSCL2 Lilian Downie Gene: bscl2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.389 BSCL2 Lilian Downie Phenotypes for gene: BSCL2 were changed from Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) to Encephalopathy, progressive, with or without lipodystrophy (MIM#615924); Lipodystrophy, congenital generalized, type 2 (MIM#269700)
Prepair 1000+ v1.388 BSCL2 Lilian Downie Publications for gene: BSCL2 were set to
Prepair 1000+ v1.387 C5 Lilian Downie Marked gene: C5 as ready
Prepair 1000+ v1.387 C5 Lilian Downie Gene: c5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.387 C5 Lilian Downie Publications for gene: C5 were set to
Prepair 1000+ v1.386 CARS2 Lilian Downie Marked gene: CARS2 as ready
Prepair 1000+ v1.386 CARS2 Lilian Downie Gene: cars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.386 CARS2 Lilian Downie Publications for gene: CARS2 were set to
Prepair 1000+ v1.385 SGPL1 Lilian Downie Marked gene: SGPL1 as ready
Prepair 1000+ v1.385 SGPL1 Lilian Downie Gene: sgpl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.385 SGPL1 Lilian Downie Publications for gene: SGPL1 were set to
Prepair 1000+ v1.384 SGPL1 Lilian Downie reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36050428, 30517686, 35748945; Phenotypes: RENI syndrome MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Marked gene: TSPYL1 as ready
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Added comment: Comment when marking as ready: Originally reported only in Amish community, founder variant
subsequently reported in 3 unrelated families, non amish - GREEN AT UPGRADE
2 cohort studies looking for variants in this gene in SIDS cohorts but it's very rare and presents with more of a progressive neurological phenotype in the non Amish families
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Gene: tspyl1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.384 TSPYL1 Lilian Downie Publications for gene: TSPYL1 were set to
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Marked gene: SLC38A8 as ready
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Gene: slc38a8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.383 SLC38A8 Lilian Downie Publications for gene: SLC38A8 were set to
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Marked gene: NDUFS8 as ready
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Gene: ndufs8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.382 NDUFS8 Lilian Downie Phenotypes for gene: NDUFS8 were changed from Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)
Prepair 1000+ v1.381 NDUFS8 Lilian Downie Publications for gene: NDUFS8 were set to
Prepair 1000+ v1.380 NGF Lilian Downie Marked gene: NGF as ready
Prepair 1000+ v1.380 NGF Lilian Downie Gene: ngf has been classified as Green List (High Evidence).
Prepair 1000+ v1.380 NGF Lilian Downie Publications for gene: NGF were set to
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Marked gene: NECTIN1 as ready
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Gene: nectin1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.379 NECTIN1 Lilian Downie Publications for gene: NECTIN1 were set to
Prepair 1000+ v1.378 FGA Lilian Downie Marked gene: FGA as ready
Prepair 1000+ v1.378 FGA Lilian Downie Gene: fga has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGB Lilian Downie Marked gene: FGB as ready
Prepair 1000+ v1.378 FGB Lilian Downie Gene: fgb has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGG Lilian Downie Marked gene: FGG as ready
Prepair 1000+ v1.378 FGG Lilian Downie Gene: fgg has been classified as Green List (High Evidence).
Prepair 1000+ v1.378 FGG Lilian Downie Publications for gene: FGG were set to
Prepair 1000+ v1.377 GNPTAB Lilian Downie Marked gene: GNPTAB as ready
Prepair 1000+ v1.377 GNPTAB Lilian Downie Gene: gnptab has been classified as Green List (High Evidence).
Prepair 1000+ v1.377 GNPTAB Lilian Downie Phenotypes for gene: GNPTAB were changed from Mucolipidosis III alpha/beta, 252600 (3) to Mucolipidosis III alpha/beta MIM#252600; Mucolipidosis II alpha/beta MIM#252500
Prepair 1000+ v1.376 GNPTAB Lilian Downie Publications for gene: GNPTAB were set to
Prepair 1000+ v1.375 GSS Lilian Downie Marked gene: GSS as ready
Prepair 1000+ v1.375 GSS Lilian Downie Gene: gss has been classified as Green List (High Evidence).
Prepair 1000+ v1.375 HADHB Lilian Downie Marked gene: HADHB as ready
Prepair 1000+ v1.375 HADHB Lilian Downie Gene: hadhb has been classified as Green List (High Evidence).
Prepair 1000+ v1.375 HADHB Lilian Downie Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015 (3) to Mitochondrial trifunctional protein deficiency 2 MIM#620300
Prepair 1000+ v1.374 HLCS Lilian Downie Marked gene: HLCS as ready
Prepair 1000+ v1.374 HLCS Lilian Downie Gene: hlcs has been classified as Green List (High Evidence).
Prepair 1000+ v1.374 HLCS Lilian Downie Publications for gene: HLCS were set to
Prepair 1000+ v1.373 HPS5 Lilian Downie Marked gene: HPS5 as ready
Prepair 1000+ v1.373 HPS5 Lilian Downie Gene: hps5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.373 KCTD7 Lilian Downie Marked gene: KCTD7 as ready
Prepair 1000+ v1.373 KCTD7 Lilian Downie Gene: kctd7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.373 KCTD7 Lilian Downie Publications for gene: KCTD7 were set to
Prepair 1000+ v1.372 LARS Lilian Downie Marked gene: LARS as ready
Prepair 1000+ v1.372 LARS Lilian Downie Gene: lars has been classified as Green List (High Evidence).
Prepair 1000+ v1.372 LARS Lilian Downie Publications for gene: LARS were set to
Prepair 1000+ v1.371 PNKP Lilian Downie Marked gene: PNKP as ready
Prepair 1000+ v1.371 PNKP Lilian Downie Gene: pnkp has been classified as Green List (High Evidence).
Prepair 1000+ v1.371 PNKP Lilian Downie Added comment: Comment on phenotypes: CMT phenotype is usually onset in 30's but childhood onset has been reported.
Prepair 1000+ v1.371 PNKP Lilian Downie Phenotypes for gene: PNKP were changed from Microcephaly, seizures, and developmental delay, 613402 (3) to Charcot-Marie-Tooth disease, type 2B2 MIM#605589; Ataxia-oculomotor apraxia 4 MIM#616267; Microcephaly, seizures, and developmental delay MIM#613402
Prepair 1000+ v1.370 PNKP Lilian Downie Publications for gene: PNKP were set to
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Marked gene: CYP27A1 as ready
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Added comment: Comment when marking as ready: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. (OMIM)
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Gene: cyp27a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.369 CYP27A1 Lilian Downie Publications for gene: CYP27A1 were set to
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Marked gene: CYP7B1 as ready
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Gene: cyp7b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.368 CYP7B1 Lilian Downie Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3, 613812 (3) to Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, 270800 (3)
Prepair 1000+ v1.367 CYP7B1 Lilian Downie Publications for gene: CYP7B1 were set to
Prepair 1000+ v1.366 OCRL Lilian Downie Marked gene: OCRL as ready
Prepair 1000+ v1.366 OCRL Lilian Downie Gene: ocrl has been classified as Green List (High Evidence).
Prepair 1000+ v1.366 OCRL Lilian Downie Phenotypes for gene: OCRL were changed from Lowe syndrome, 309000 (3) to Dent disease 2 MIM#300555; Lowe syndrome MIM#309000
Prepair 1000+ v1.365 OCRL Lilian Downie Publications for gene: OCRL were set to
Prepair 1000+ v1.364 PKHD1 Lilian Downie Marked gene: PKHD1 as ready
Prepair 1000+ v1.364 PKHD1 Lilian Downie Gene: pkhd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.364 PKHD1 Lilian Downie Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 (3) to Polycystic kidney disease 4, with or without hepatic disease MIM#263200
Prepair 1000+ v1.363 PKHD1 Lilian Downie Publications for gene: PKHD1 were set to
Prepair 1000+ v1.362 DHCR7 Lilian Downie Marked gene: DHCR7 as ready
Prepair 1000+ v1.362 DHCR7 Lilian Downie Gene: dhcr7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.362 DHCR7 Lilian Downie Publications for gene: DHCR7 were set to
Prepair 1000+ v1.361 ALPL Lilian Downie Marked gene: ALPL as ready
Prepair 1000+ v1.361 ALPL Lilian Downie Gene: alpl has been classified as Green List (High Evidence).
Prepair 1000+ v1.361 ALPL Lilian Downie Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500 (3) to Hypophosphatasia, childhood (MIM#241510); Hypophosphatasia, infantile (MIM#241500)
Prepair 1000+ v1.360 ALPL Lilian Downie Publications for gene: ALPL were set to
Prepair 1000+ v1.359 NECTIN1 Lauren Rogers reviewed gene: NECTIN1: Rating: ; Mode of pathogenicity: None; Publications: 25913853, 10932188, 26953873; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 NGF Lauren Rogers reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V (MIM#608654); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 NDUFS8 Lauren Rogers reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23430795, 36101822; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 SLC38A8 Lauren Rogers reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290379, 32744312; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 TSPYL1 Lauren Rogers reviewed gene: TSPYL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15273283, 32885560, 33075815, 36082874; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome (MIM#608800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.359 AP1S2 Ain Roesley Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, 304340 (3) to Pettigrew syndrome, MIM# 304340
Prepair 1000+ v1.358 USP9X Ain Roesley Phenotypes for gene: USP9X were changed from Intellectual developmental disorder, X-linked 99, MIM#300919 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Prepair 1000+ v1.357 IL7R Ain Roesley Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) to severe combined immunodeficiency 104 MIM#608971
Prepair 1000+ v1.356 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome 14, 617575 (3), Autosomal recessive to RENI syndrome (MIM#617575)
Prepair 1000+ v1.355 CARS2 Crystle Lee reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30139652, 34704010; Phenotypes: Combined oxidative phosphorylation deficiency 27 (MIM#616672); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 C5 Crystle Lee reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 23371790; Phenotypes: C5 deficiency (MIM#609536); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 BSCL2 Crystle Lee reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23564749, 23659685, 26815532; Phenotypes: Encephalopathy, progressive, with or without lipodystrophy (MIM#615924), Lipodystrophy, congenital generalized, type 2 (MIM#269700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 BBS10 Crystle Lee reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 36340607; Phenotypes: Bardet-Biedl syndrome 10 (MIM#615987); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.355 ALAD Lilian Downie Marked gene: ALAD as ready
Prepair 1000+ v1.355 ALAD Lilian Downie Gene: alad has been classified as Green List (High Evidence).
Prepair 1000+ v1.355 ALAD Lilian Downie Publications for gene: ALAD were set to
Prepair 1000+ v1.354 GAN Lilian Downie Marked gene: GAN as ready
Prepair 1000+ v1.354 GAN Lilian Downie Gene: gan has been classified as Green List (High Evidence).
Prepair 1000+ v1.354 GAN Lilian Downie Publications for gene: GAN were set to
Prepair 1000+ v1.353 ABAT Lilian Downie Marked gene: ABAT as ready
Prepair 1000+ v1.353 ABAT Lilian Downie Gene: abat has been classified as Green List (High Evidence).
Prepair 1000+ v1.353 ABAT Lilian Downie Publications for gene: ABAT were set to
Prepair 1000+ v1.352 GATM Lilian Downie Marked gene: GATM as ready
Prepair 1000+ v1.352 GATM Lilian Downie Gene: gatm has been classified as Green List (High Evidence).
Prepair 1000+ v1.352 GATM Lilian Downie Publications for gene: GATM were set to
Prepair 1000+ v1.351 AMPD2 Lilian Downie Marked gene: AMPD2 as ready
Prepair 1000+ v1.351 AMPD2 Lilian Downie Gene: ampd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.351 AMPD2 Lilian Downie Publications for gene: AMPD2 were set to 23911318
Prepair 1000+ v1.350 AMPD2 Lilian Downie Publications for gene: AMPD2 were set to
Prepair 1000+ v1.349 ASPA Lilian Downie Marked gene: ASPA as ready
Prepair 1000+ v1.349 ASPA Lilian Downie Gene: aspa has been classified as Green List (High Evidence).
Prepair 1000+ v1.349 ASPA Lilian Downie Publications for gene: ASPA were set to
Prepair 1000+ v1.348 ALPL Crystle Lee reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500388, 23688511, 32029969, 24569605; Phenotypes: Hypophosphatasia, childhood (MIM#241510), Hypophosphatasia, infantile (MIM#241500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.348 HK1 Lilian Downie Marked gene: HK1 as ready
Prepair 1000+ v1.348 HK1 Lilian Downie Added comment: Comment when marking as ready: Caution mutliple phenotypes:

AD phenotype Neurodevelopmental disorder with visual defects and brain anomalies MIM#618547 caused by recurrent variants likely causing gain-of-function c.1370C>T, c.1334C>T, c.1240G>A
(PMID: 38617198)

AR HMSNR Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.
Prepair 1000+ v1.348 HK1 Lilian Downie Gene: hk1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.348 HK1 Lilian Downie Phenotypes for gene: HK1 were changed from Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) to Hemolytic anemia due to hexokinase deficiency MIM#235700; Neuropathy, hereditary motor and sensory, Russe type, MIM#605285
Prepair 1000+ v1.347 HK1 Lilian Downie Publications for gene: HK1 were set to
Prepair 1000+ v1.346 ATP6V0A2 Lilian Downie Marked gene: ATP6V0A2 as ready
Prepair 1000+ v1.346 ATP6V0A2 Lilian Downie Gene: atp6v0a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.346 ATP6V0A2 Lilian Downie Publications for gene: ATP6V0A2 were set to
Prepair 1000+ v1.345 PNPO Lilian Downie Marked gene: PNPO as ready
Prepair 1000+ v1.345 PNPO Lilian Downie Gene: pnpo has been classified as Green List (High Evidence).
Prepair 1000+ v1.345 PNPO Lilian Downie Publications for gene: PNPO were set to
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Marked gene: POMGNT1 as ready
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Added comment: Comment when marking as ready: Isolated RP presentation can start with night blindness in childhood.
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Gene: pomgnt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.344 POMGNT1 Lilian Downie Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157
Prepair 1000+ v1.343 POMGNT1 Lilian Downie Publications for gene: POMGNT1 were set to
Prepair 1000+ v1.342 PQBP1 Lilian Downie Marked gene: PQBP1 as ready
Prepair 1000+ v1.342 PQBP1 Lilian Downie Gene: pqbp1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.342 PQBP1 Lilian Downie Publications for gene: PQBP1 were set to
Prepair 1000+ v1.341 PRG4 Lilian Downie Marked gene: PRG4 as ready
Prepair 1000+ v1.341 PRG4 Lilian Downie Gene: prg4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.341 PRG4 Lilian Downie Publications for gene: PRG4 were set to 10545950; 29397575
Prepair 1000+ v1.340 PRG4 Lilian Downie Publications for gene: PRG4 were set to
Prepair 1000+ v1.339 PRUNE1 Lilian Downie Marked gene: PRUNE1 as ready
Prepair 1000+ v1.339 PRUNE1 Lilian Downie Gene: prune1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.339 PRUNE1 Lilian Downie Phenotypes for gene: PRUNE1 were changed from Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481
Prepair 1000+ v1.338 PRUNE1 Lilian Downie Publications for gene: PRUNE1 were set to
Prepair 1000+ v1.337 RBM10 Lilian Downie Marked gene: RBM10 as ready
Prepair 1000+ v1.337 RBM10 Lilian Downie Gene: rbm10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.337 RBM10 Lilian Downie Publications for gene: RBM10 were set to
Prepair 1000+ v1.336 RFXAP Lilian Downie Marked gene: RFXAP as ready
Prepair 1000+ v1.336 RFXAP Lilian Downie Gene: rfxap has been classified as Green List (High Evidence).
Prepair 1000+ v1.336 RFXAP Lilian Downie Phenotypes for gene: RFXAP were changed from Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) to MHC class II deficiency 4 MIM#620817
Prepair 1000+ v1.335 RFXAP Lilian Downie Publications for gene: RFXAP were set to
Prepair 1000+ v1.334 SARS2 Lilian Downie Marked gene: SARS2 as ready
Prepair 1000+ v1.334 SARS2 Lilian Downie Gene: sars2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.334 SARS2 Lilian Downie Publications for gene: SARS2 were set to
Prepair 1000+ v1.333 SLC13A5 Lilian Downie Marked gene: SLC13A5 as ready
Prepair 1000+ v1.333 SLC13A5 Lilian Downie Gene: slc13a5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.333 SLC13A5 Lilian Downie Phenotypes for gene: SLC13A5 were changed from Epileptic encephalopathy, early infantile, 25, 615905 (3) to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Prepair 1000+ v1.332 SLC13A5 Lilian Downie Publications for gene: SLC13A5 were set to
Prepair 1000+ v1.331 SLC2A10 Lilian Downie Marked gene: SLC2A10 as ready
Prepair 1000+ v1.331 SLC2A10 Lilian Downie Gene: slc2a10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.331 SLC2A10 Lilian Downie Publications for gene: SLC2A10 were set to
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Marked gene: SLC45A2 as ready
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Added comment: Comment when marking as ready: Gene also known as MATP
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Gene: slc45a2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.330 SLC45A2 Lilian Downie Publications for gene: SLC45A2 were set to 11574907; 14722913; 14961451
Prepair 1000+ v1.329 SLC45A2 Lilian Downie Publications for gene: SLC45A2 were set to
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Marked gene: SLC6A3 as ready
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Gene: slc6a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.328 SLC6A3 Lilian Downie Publications for gene: SLC6A3 were set to
Prepair 1000+ v1.327 SPAG1 Lilian Downie Marked gene: SPAG1 as ready
Prepair 1000+ v1.327 SPAG1 Lilian Downie Gene: spag1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.327 SPAG1 Lilian Downie Publications for gene: SPAG1 were set to
Prepair 1000+ v1.326 SPEG Lilian Downie Marked gene: SPEG as ready
Prepair 1000+ v1.326 SPEG Lilian Downie Gene: speg has been classified as Green List (High Evidence).
Prepair 1000+ v1.326 SPEG Lilian Downie Publications for gene: SPEG were set to 29614691; 30157964; 25087613; 29474540; 31625632; 28624463; 26578207; 30412272
Prepair 1000+ v1.325 STAMBP Lilian Downie Marked gene: STAMBP as ready
Prepair 1000+ v1.325 STAMBP Lilian Downie Gene: stambp has been classified as Green List (High Evidence).
Prepair 1000+ v1.325 STAMBP Lilian Downie Publications for gene: STAMBP were set to
Prepair 1000+ v1.324 STAR Lilian Downie Marked gene: STAR as ready
Prepair 1000+ v1.324 STAR Lilian Downie Gene: star has been classified as Green List (High Evidence).
Prepair 1000+ v1.324 STAR Lilian Downie Publications for gene: STAR were set to
Prepair 1000+ v1.323 TBCE Lilian Downie Marked gene: TBCE as ready
Prepair 1000+ v1.323 TBCE Lilian Downie Gene: tbce has been classified as Green List (High Evidence).
Prepair 1000+ v1.323 TBCE Lilian Downie Phenotypes for gene: TBCE were changed from Kenny-Caffey syndrome-1, 244460 (3) to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410; Kenny-Caffey syndrome, type 1 MIM#244460
Prepair 1000+ v1.322 TBCE Andrew Coventry reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27666369 34134906 17699660 34356170 12389028; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207, Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410, Kenny-Caffey syndrome, type 1 MIM#244460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 STAR Andrew Coventry reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608 8634702 9326645 8948562 9097960 11061515 11297612 14764819 16968793; Phenotypes: Lipoid adrenal hyperplasia MIM#201710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 STAMBP Andrew Coventry reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699 31638258 29907875 27531570 25692795 25266620 11713295; Phenotypes: Microcephaly-capillary malformation syndrome MIM#614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SPEG Andrew Coventry reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25087613 31625632 30412272 30157964 29614691 29474540 28624463 26578207 25087613 32925938 33794647 19118250 25087613; Phenotypes: Centronuclear myopathy 5 MIM615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SPAG1 Andrew Coventry reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112 32502479; Phenotypes: Ciliary dyskinesia, primary, 28 MIM#615505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC6A3 Andrew Coventry reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253 19478460; Phenotypes: Parkinsonism-dystonia, infantile, 1 MIM#613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC45A2 Andrew Coventry reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907 14722913 14961451; Phenotypes: Albinism, oculocutaneous, type IV MIM#606574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC2A10 Andrew Coventry reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989 16550171 17935213 22116938; Phenotypes: Arterial tortuosity syndrome MIM#208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SLC13A5 Andrew Coventry reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24995870 26384929 27600704 38113697; Phenotypes: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 SARS2 Andrew Coventry reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24034276 21255763 33751860 34407605 38326069 38264205; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 RFXAP Andrew Coventry reviewed gene: RFXAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9118943 32875002 11258423; Phenotypes: MHC class II deficiency 4 MIM#620817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 RBM10 Andrew Coventry reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451169 24259342 30450804 30189253 33340101; Phenotypes: TARP syndrome MIM#311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 PRUNE1 Andrew Coventry reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26539891 28334956 33105479 29797509; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PRG4 Andrew Coventry reviewed gene: PRG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545950 29397575; Phenotypes: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome MIM#208250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PQBP1 Andrew Coventry reviewed gene: PQBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31840929 14634649 20410308 19661183; Phenotypes: Renpenning syndrome MIM#309500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 POMGNT1 Andrew Coventry reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27391550 26908613 30961548 30937090; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PNPO Andrew Coventry reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 34769443 33981986 33748042 32888189 24658933 15772097 31261385 31616300 31759955; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 ATP6V0A2 Clare Hunt reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19401719, 22773132; Phenotypes: Cutis laxa, autosomal recessive, type IIA MIM#219200, Wrinkly skin syndrome, MIM#278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HK1 Marta Cifuentes Ochoa reviewed gene: HK1: Rating: ; Mode of pathogenicity: None; Publications: 33361148, 12393545; Phenotypes: Hemolytic anemia due to hexokinase deficiency MIM#235700, Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) MONDO:0009340 and Neuropathy, hereditary motor and sensory, Russe type MIM#605285, Charcot-Marie-Tooth disease type 4G (CMT4G) MONDO:0011534; Mode of inheritance: None
Prepair 1000+ v1.322 ASPA Clare Hunt reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22750302, 20301412; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 AMPD2 Clare Hunt reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23911318; Phenotypes: Pontocerebellar hypoplasia type 9 (PCH9); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GATM Marta Cifuentes Ochoa reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11555793, 27604308; Phenotypes: Cerebral creatine deficiency syndrome 3 MIM#612718, AGAT deficiency MONDO:0012996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 ABAT Clare Hunt reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25738457; Phenotypes: GABA-transaminase deficiency, MIM# 613163, mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GAN Marta Cifuentes Ochoa reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30532362, 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850, MONDO:0009749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 AARS2 Clare Hunt edited their review of gene: AARS2: Added comment: At least 6 families presenting with a severe COXPD phenotype in infancy, primarily with cardiac, muscle and neurological features in addition to lactic acidosis. Further 6 reported with a progressive neurodegenerative disorder characterised by loss of motor and cognitive skills, usually with onset in young adulthood. Some had a history of delayed motor development or learning difficulties in early childhood. Neurologic decline was severe, usually resulting in gait difficulties, ataxia, spasticity, and cognitive decline and dementia. Most individuals lost speech and become wheelchair-bound or bedridden. Brain MRI showed progressive white matter signal abnormalities in the deep white matter. Affected females developed premature ovarian failure. These likely represent a spectrum of severity of a single mitochondrial disorder.
Created: 29 Aug 2020, 4:55 a.m. | Last Modified: 29 Aug 2020, 4:55 a.m.
Panel Version: 0.3999; Changed publications: 27839525
Prepair 1000+ v1.322 ALAD Lauren Thomas reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic, MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 DHCR7 Cassandra Muller reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16906538, 10602371, 10677299; Phenotypes: Smith-Lemli-Opitz syndrome (MIM#270400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PKHD1 Andrew Coventry reviewed gene: PKHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28375157 21945273; Phenotypes: Polycystic kidney disease 4, with or without hepatic disease MIM#263200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.322 OCRL Andrew Coventry reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 9199559 15627218 27625797; Phenotypes: Dent disease 2 MIM#300555, Lowe syndrome MIM#309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.322 CYP7B1 Cassandra Muller reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9802883, 18252231, 31337596, 18252231; Phenotypes: Bile acid synthesis defect, congenital, 3, 613812 (3), Spastic paraplegia 5A, 270800 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 CYP27A1 Cassandra Muller reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 PNKP Shakira Heerah reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899, 20118933, 23224214, 29243230, 2578773, 27066567; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay, Charcot-Marie-Tooth disease, type 2B2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 LARS Lucy Spencer reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile liver failure syndrome 1, MIM# 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 KCTD7 Lucy Spencer reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions MIM#611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HPS5 Lucy Spencer reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 5 MIM#614074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HLCS Lucy Spencer reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency MIM#253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 HADHB Lucy Spencer reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial trifunctional protein deficiency 2 MIM#620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GSS Lucy Spencer reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency MIM#266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 GNPTAB Lucy Spencer reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III alpha/beta MIM#252600, Mucolipidosis II alpha/beta MIM#252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGG Lucy Spencer reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital MIM#202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGB Lucy Spencer reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital MIM#202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGA Lucy Spencer reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 FGA Lucy Spencer Deleted their review
Prepair 1000+ v1.322 FGA Lucy Spencer reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: Afibrinogenemia, congenital (MIM#202400); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.322 DYNC2LI1 Lilian Downie Marked gene: DYNC2LI1 as ready
Prepair 1000+ v1.322 DYNC2LI1 Lilian Downie Gene: dync2li1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.322 DYNC2LI1 Lilian Downie Publications for gene: DYNC2LI1 were set to
Prepair 1000+ v1.321 EPCAM Lilian Downie Marked gene: EPCAM as ready
Prepair 1000+ v1.321 EPCAM Lilian Downie Gene: epcam has been classified as Green List (High Evidence).
Prepair 1000+ v1.321 EPCAM Lilian Downie Publications for gene: EPCAM were set to
Prepair 1000+ v1.320 EVC Lilian Downie Marked gene: EVC as ready
Prepair 1000+ v1.320 EVC Lilian Downie Gene: evc has been classified as Green List (High Evidence).
Prepair 1000+ v1.320 EVC Lilian Downie Publications for gene: EVC were set to
Prepair 1000+ v1.319 ERCC2 Lilian Downie Marked gene: ERCC2 as ready
Prepair 1000+ v1.319 ERCC2 Lilian Downie Gene: ercc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.319 ERCC2 Lilian Downie Phenotypes for gene: ERCC2 were changed from Cerebrooculofacioskeletal syndrome 2, 610756 (3) to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D, MIM# 278730
Prepair 1000+ v1.318 ERCC2 Lilian Downie Publications for gene: ERCC2 were set to
Prepair 1000+ v1.317 ABCD1 Lilian Downie Marked gene: ABCD1 as ready
Prepair 1000+ v1.317 ABCD1 Lilian Downie Gene: abcd1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.317 ABCD1 Lilian Downie Publications for gene: ABCD1 were set to
Prepair 1000+ v1.316 ACOX1 Lilian Downie Marked gene: ACOX1 as ready
Prepair 1000+ v1.316 ACOX1 Lilian Downie Gene: acox1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.316 ACOX1 Lilian Downie Publications for gene: ACOX1 were set to
Prepair 1000+ v1.315 ADAMTS13 Lilian Downie Marked gene: ADAMTS13 as ready
Prepair 1000+ v1.315 ADAMTS13 Lilian Downie Gene: adamts13 has been classified as Green List (High Evidence).
Prepair 1000+ v1.315 ADAMTS13 Lilian Downie Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 (3) to Thrombotic thrombocytopenic purpura, hereditary, MIM#274150
Prepair 1000+ v1.314 ADAMTS13 Lilian Downie Publications for gene: ADAMTS13 were set to 16796708; 34702267
Prepair 1000+ v1.313 ADAMTS13 Lilian Downie Publications for gene: ADAMTS13 were set to
Prepair 1000+ v1.312 AIPL1 Lilian Downie Marked gene: AIPL1 as ready
Prepair 1000+ v1.312 AIPL1 Lilian Downie Gene: aipl1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.312 AIPL1 Lilian Downie Phenotypes for gene: AIPL1 were changed from Cone-rod dystrophy, 604393 (3) to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Prepair 1000+ v1.311 AIPL1 Lilian Downie Publications for gene: AIPL1 were set to
Prepair 1000+ v1.310 ALG11 Lilian Downie Marked gene: ALG11 as ready
Prepair 1000+ v1.310 ALG11 Lilian Downie Gene: alg11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.310 ALG11 Lilian Downie Publications for gene: ALG11 were set to
Prepair 1000+ v1.309 ALG8 Lilian Downie Marked gene: ALG8 as ready
Prepair 1000+ v1.309 ALG8 Lilian Downie Gene: alg8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.309 ALG8 Lilian Downie Publications for gene: ALG8 were set to
Prepair 1000+ v1.308 AP3B2 Lilian Downie Marked gene: AP3B2 as ready
Prepair 1000+ v1.308 AP3B2 Lilian Downie Gene: ap3b2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.308 AP3B2 Lilian Downie Phenotypes for gene: AP3B2 were changed from Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive to Developmental and epileptic encephalopathy 48 MIM#617276
Prepair 1000+ v1.307 AP3B2 Lilian Downie Publications for gene: AP3B2 were set to
Prepair 1000+ v1.306 ARPC1B Lilian Downie Marked gene: ARPC1B as ready
Prepair 1000+ v1.306 ARPC1B Lilian Downie Gene: arpc1b has been classified as Green List (High Evidence).
Prepair 1000+ v1.306 ARPC1B Lilian Downie Phenotypes for gene: ARPC1B were changed from Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718
Prepair 1000+ v1.305 ARPC1B Lilian Downie Publications for gene: ARPC1B were set to
Prepair 1000+ v1.304 ARPC1B Crystle Lee edited their review of gene: ARPC1B: Changed publications: 36708766, 33679784
Prepair 1000+ v1.304 ARPC1B Crystle Lee reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 36708766; Phenotypes: Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 AP3B2 Crystle Lee reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889060; Phenotypes: Developmental and epileptic encephalopathy 48, MIM#617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ALG8 Crystle Lee reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054, 36574950; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM#608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ALG11 Crystle Lee reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 36843332, 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM#613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 AIPL1 Crystle Lee changed review comment from: Biallelic AIPL1 variants are associated with a spectrum of inherited retinal disease, ranging from severe Leber congenital amaurosis (LCA) to later onset retinitis pigmentosa (RP). Heterozygotes present with a milder, later onset cone rod dystrophy and RP.

LCA is a congenital-onset, rapid and progressive disease leading to severe vision impariment and/or loss of vision.; to: Biallelic AIPL1 variants are associated with a spectrum of inherited retinal disease, ranging from severe Leber congenital amaurosis (LCA) to later onset retinitis pigmentosa (RP). Heterozygotes present with a milder, later onset cone rod dystrophy and RP.

LCA is a congenital-onset, rapid and progressive disease leading to severe vision impairment and/or loss of vision.
Prepair 1000+ v1.304 AIPL1 Crystle Lee reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33067476; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ADAMTS13 Crystle Lee reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: 16796708, 34702267; Phenotypes: Thrombotic thrombocytopenic purpura, hereditary, MIM#274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ACOX1 Crystle Lee reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32169171, 17458872; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM#264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.304 ABCD1 Crystle Lee reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35983253; Phenotypes: Adrenoleukodystrophy, MIM#300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.304 ERCC2 Ee Ming Wong changed review comment from: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.
- Severe, early onset of all three phenotypes have been reported
- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)
- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.; to: - Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, including xeroderma pigmentosum, photosensitive trichothiodystrophy, and cerebro-oculo-facio-skeletal syndrome.
- Severe, early onset of all three phenotypes have been reported
- Variable expressivity has been reported for Xeroderma pigmentosum, group D, MIM# 278730 where individuals can present with or without mild or severe neurologic abnormalities (GeneReviews)
- OMIM: The location of variants (mutagenic pattern) is consistent in determining the phenotype. Variants shared by both phenotypes are functionally null alleles, and the second / compound heterozygous variant then determines the phenotype. Changes at p.Arg683 are clearly associated with XP, whereas p.Arg112His, p.Arg722Trp, and changes at p.Arg658 are associated with TTD.
Prepair 1000+ v1.304 EVC Ee Ming Wong reviewed gene: EVC: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.304 ERCC2 Ee Ming Wong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301571, 32047639, 33369099; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, Trichothiodystrophy 1, photosensitive, MIM# 601675, Xeroderma pigmentosum, group D, MIM# 278730; Mode of inheritance: None; Current diagnostic: yes
Prepair 1000+ v1.304 EPCAM Ee Ming Wong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 24142340; Phenotypes: Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.304 DYNC2LI1 Ee Ming Wong reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.304 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Prepair 1000+ v1.304 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.304 PSAT1 Zornitza Stark Phenotypes for gene: PSAT1 were changed from Neu-Laxova syndrome 2, 616038 (3) to Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038
Prepair 1000+ v1.303 PSAT1 Zornitza Stark Publications for gene: PSAT1 were set to
Prepair 1000+ v1.302 GMPPA Zornitza Stark Marked gene: GMPPA as ready
Prepair 1000+ v1.302 GMPPA Zornitza Stark Gene: gmppa has been classified as Green List (High Evidence).
Prepair 1000+ v1.302 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from Alacrima, achalasia, and mental retardation syndrome, 615510 (3) to Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510)
Prepair 1000+ v1.301 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Prepair 1000+ v1.300 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Prepair 1000+ v1.300 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Prepair 1000+ v1.300 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Prepair 1000+ v1.299 GMPPB Zornitza Stark Publications for gene: GMPPB were set to
Prepair 1000+ v1.298 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.298 LCAT Zornitza Stark Marked gene: LCAT as ready
Prepair 1000+ v1.298 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Prepair 1000+ v1.298 LCAT Zornitza Stark Phenotypes for gene: LCAT were changed from Norum disease, 245900 (3) to Norum disease, MIM#245900; Fish-eye disease, MIM# 136120
Prepair 1000+ v1.297 LCAT Zornitza Stark Publications for gene: LCAT were set to
Prepair 1000+ v1.296 LCAT Zornitza Stark Tag for review tag was added to gene: LCAT.
Prepair 1000+ v1.296 LCAT Zornitza Stark reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fish-eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.296 ZMYND10 Zornitza Stark Marked gene: ZMYND10 as ready
Prepair 1000+ v1.296 ZMYND10 Zornitza Stark Gene: zmynd10 has been classified as Green List (High Evidence).
Prepair 1000+ v1.296 ZMYND10 Zornitza Stark Phenotypes for gene: ZMYND10 were changed from Ciliary dyskinesia, primary, 22, 615444 (3) to Ciliary dyskinesia, primary, 22 (MIM#615444)
Prepair 1000+ v1.295 ZMYND10 Zornitza Stark Publications for gene: ZMYND10 were set to
Prepair 1000+ v1.294 MRE11 Zornitza Stark Marked gene: MRE11 as ready
Prepair 1000+ v1.294 MRE11 Zornitza Stark Gene: mre11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.294 MRE11 Zornitza Stark Publications for gene: MRE11 were set to
Prepair 1000+ v1.293 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Prepair 1000+ v1.293 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.293 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Spastic paraplegia 9B, autosomal recessive, 616586 (3) to Cutis laxa, autosomal recessive, type IIIA (MIM#219150); Spastic paraplegia 9B, autosomal recessive (MIM#616586)
Prepair 1000+ v1.292 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Prepair 1000+ v1.291 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Prepair 1000+ v1.291 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.291 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Prepair 1000+ v1.290 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Prepair 1000+ v1.290 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.290 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Prepair 1000+ v1.289 PSAT1 Lauren Rogers reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32077105, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency MIM#610992, Neu-Laxova syndrome 2 MIM#616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.289 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Prepair 1000+ v1.289 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.289 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to
Prepair 1000+ v1.288 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Prepair 1000+ v1.288 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.287 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contractural syndrome 3 (MIM#611369); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 PIP5K1C Lauren Rogers reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: None; Publications: 17701898, 38491417; Phenotypes: Lethal congenital contractural syndrome 3 (MIM#611369); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 AP1S2 Lauren Rogers reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30714330, 23756445, 17186471; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.287 ALDH1A3 Lauren Rogers reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 30200890; Phenotypes: Microphthalmia, isolated 8 (MIM#615113); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ALDH18A1 Lauren Rogers reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24913064, 18478038, 26026163; Phenotypes: Cutis laxa, autosomal recessive, type IIIA (MIM#219150), Spastic paraplegia 9B, autosomal recessive (MIM#616586); Mode of inheritance: None
Prepair 1000+ v1.287 MRE11 Lauren Rogers reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1 (MIM#604391); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ZMYND10 Lauren Rogers reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891471, 23891469; Phenotypes: Ciliary dyskinesia, primary, 22 (MIM#615444); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 LCAT Lauren Rogers changed review comment from: Well established gene-disease association.

A disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

Onset is generally in adulthood; to: Well established gene-disease association.

A disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

Onset/diagnosis is generally in adulthood
Prepair 1000+ v1.287 LCAT Lauren Rogers reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 30720493, 6624548, 34256778; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 LCAT Lauren Rogers Deleted their review
Prepair 1000+ v1.287 LCAT Lauren Rogers reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 GMPPB Lauren Rogers reviewed gene: GMPPB: Rating: ; Mode of pathogenicity: None; Publications: 36833299; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: None
Prepair 1000+ v1.287 GMPPA Lauren Rogers reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 GAS8 Lauren Rogers reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38873586, 26387594, 27120127; Phenotypes: Ciliary dyskinesia, primary, 33 MIM#616726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 NYX Andrew Coventry reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471 11062472 16670814 23714322 34064005 34165036 12506099 11062471 17004930; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.287 NPHS2 Andrew Coventry reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597 30260545 24509478 10742096 23242530 24509478 12464671; Phenotypes: Nephrotic syndrome, type 2 MIM#600995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 NIPAL4 Andrew Coventry reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15317751 17557927 10712205; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 MIM#612281; Mode of inheritance: None
Prepair 1000+ v1.287 MPLKIP Andrew Coventry reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive MIM#234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 MGAT2 Andrew Coventry reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595 11228641 22105986 33044030 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa MIM#212066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 CTSF Cassandra Muller reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 MCFD2 Andrew Coventry reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12717434 17610559 18391077 15886209; Phenotypes: Factor V and factor VIII, combined deficiency of MIM#613625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 LRP5 Andrew Coventry reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9056564 9831343 11719191 15346351 18602879; Phenotypes: Exudative vitreoretinopathy 4 MIM#601813, Osteoporosis-pseudoglioma syndrome MIM#259770; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Prepair 1000+ v1.287 ADGRV1 Lauren Thomas reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19357117; Phenotypes: Usher syndrome, type 2C, MIM# 605472 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ADGRG1 Lauren Thomas reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336, 33299078; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ADA2 Lauren Thomas reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 ABCC6 Lauren Thomas reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudoxanthoma elasticum MIM#264800, Arterial calcification, generalized, of infancy, 2 MIM#614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.287 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Prepair 1000+ v1.287 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.287 COL2A1 Zornitza Stark Classified gene: COL2A1 as Red List (low evidence)
Prepair 1000+ v1.287 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.286 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloperipheral dysplasia, MIM #271700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.286 GNAT2 Zornitza Stark Marked gene: GNAT2 as ready
Prepair 1000+ v1.286 GNAT2 Zornitza Stark Gene: gnat2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.286 GNAT2 Zornitza Stark Phenotypes for gene: GNAT2 were changed from Achromatopsia-4, 613856 (3) to Achromatopsia 4 MIM#613856
Prepair 1000+ v1.285 GNAT2 Zornitza Stark Publications for gene: GNAT2 were set to
Prepair 1000+ v1.284 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Prepair 1000+ v1.284 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.284 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; MONDO:0020692
Prepair 1000+ v1.283 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Prepair 1000+ v1.282 CSTB Lilian Downie Marked gene: CSTB as ready
Prepair 1000+ v1.282 CSTB Lilian Downie Added comment: Comment when marking as ready: downgrade to amber when updating, common variant not detected with WES
Prepair 1000+ v1.282 CSTB Lilian Downie Gene: cstb has been classified as Green List (High Evidence).
Prepair 1000+ v1.282 EIF2B4 Lilian Downie Marked gene: EIF2B4 as ready
Prepair 1000+ v1.282 EIF2B4 Lilian Downie Gene: eif2b4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.282 EIF2B4 Lilian Downie Publications for gene: EIF2B4 were set to
Prepair 1000+ v1.281 ERBB3 Lilian Downie Marked gene: ERBB3 as ready
Prepair 1000+ v1.281 ERBB3 Lilian Downie Added comment: Comment when marking as ready: Upgrade to green
Prepair 1000+ v1.281 ERBB3 Lilian Downie Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.281 ERBB3 Lilian Downie Tag for review tag was added to gene: ERBB3.
Prepair 1000+ v1.281 ERBB3 Lilian Downie Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, 607598 (3) to Visceral neuropathy, familial, 1, autosomal recessive MIM#243180
Prepair 1000+ v1.280 ERBB3 Lilian Downie Publications for gene: ERBB3 were set to
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Marked gene: B3GALNT2 as ready
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Added comment: Comment when marking as ready: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies'
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Gene: b3galnt2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.279 B3GALNT2 Lilian Downie Publications for gene: B3GALNT2 were set to
Prepair 1000+ v1.278 EVC2 Lilian Downie Marked gene: EVC2 as ready
Prepair 1000+ v1.278 EVC2 Lilian Downie Gene: evc2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.278 EVC2 Lilian Downie Publications for gene: EVC2 were set to
Prepair 1000+ v1.277 FAT4 Lilian Downie Marked gene: FAT4 as ready
Prepair 1000+ v1.277 FAT4 Lilian Downie Gene: fat4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.277 FAT4 Lilian Downie Phenotypes for gene: FAT4 were changed from Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3) to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
Prepair 1000+ v1.276 FAT4 Lilian Downie Publications for gene: FAT4 were set to
Prepair 1000+ v1.275 FKTN Lilian Downie Marked gene: FKTN as ready
Prepair 1000+ v1.275 FKTN Lilian Downie Gene: fktn has been classified as Green List (High Evidence).
Prepair 1000+ v1.275 FKTN Lilian Downie Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) to Cardiomyopathy, dilated, 1X MIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM# 611588
Prepair 1000+ v1.274 FKTN Lilian Downie Publications for gene: FKTN were set to
Prepair 1000+ v1.273 GDF5 Lilian Downie Marked gene: GDF5 as ready
Prepair 1000+ v1.273 GDF5 Lilian Downie Gene: gdf5 has been classified as Green List (High Evidence).
Prepair 1000+ v1.273 GDF5 Lilian Downie Publications for gene: GDF5 were set to
Prepair 1000+ v1.272 FANCC Lilian Downie Marked gene: FANCC as ready
Prepair 1000+ v1.272 FANCC Lilian Downie Added comment: Comment when marking as ready: Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair
Prepair 1000+ v1.272 FANCC Lilian Downie Gene: fancc has been classified as Green List (High Evidence).
Prepair 1000+ v1.272 FANCC Lilian Downie Publications for gene: FANCC were set to
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Marked gene: KCNJ11 as ready
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Added comment: Comment when marking as ready: Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Gene: kcnj11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.271 KCNJ11 Lilian Downie Publications for gene: KCNJ11 were set to
Prepair 1000+ v1.270 COL4A4 Lilian Downie Marked gene: COL4A4 as ready
Prepair 1000+ v1.270 COL4A4 Lilian Downie Gene: col4a4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.270 COL4A4 Lilian Downie Publications for gene: COL4A4 were set to
Prepair 1000+ v1.269 ICOS Lilian Downie Marked gene: ICOS as ready
Prepair 1000+ v1.269 ICOS Lilian Downie Gene: icos has been classified as Green List (High Evidence).
Prepair 1000+ v1.269 ICOS Lilian Downie Publications for gene: ICOS were set to
Prepair 1000+ v1.268 ICOS Lilian Downie Tag SV/CNV tag was added to gene: ICOS.
Prepair 1000+ v1.268 ITGB2 Lilian Downie Marked gene: ITGB2 as ready
Prepair 1000+ v1.268 ITGB2 Lilian Downie Gene: itgb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.268 ITGB2 Lilian Downie Publications for gene: ITGB2 were set to
Prepair 1000+ v1.267 JAK3 Lilian Downie Marked gene: JAK3 as ready
Prepair 1000+ v1.267 JAK3 Lilian Downie Gene: jak3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.267 JAK3 Lilian Downie Publications for gene: JAK3 were set to
Prepair 1000+ v1.266 LAMB1 Lilian Downie Marked gene: LAMB1 as ready
Prepair 1000+ v1.266 LAMB1 Lilian Downie Gene: lamb1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.266 LAMB1 Lilian Downie Publications for gene: LAMB1 were set to
Prepair 1000+ v1.265 LGI4 Lilian Downie Marked gene: LGI4 as ready
Prepair 1000+ v1.265 LGI4 Lilian Downie Gene: lgi4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.265 LGI4 Lilian Downie Publications for gene: LGI4 were set to
Prepair 1000+ v1.264 CPT1A Lilian Downie Marked gene: CPT1A as ready
Prepair 1000+ v1.264 CPT1A Lilian Downie Gene: cpt1a has been classified as Green List (High Evidence).
Prepair 1000+ v1.264 CPT1A Lilian Downie Publications for gene: CPT1A were set to
Prepair 1000+ v1.263 CSTB Lilian Downie Tag for review tag was added to gene: CSTB.
Prepair 1000+ v1.263 CSTB Lilian Downie Publications for gene: CSTB were set to
Prepair 1000+ v1.262 CFH Lilian Downie Marked gene: CFH as ready
Prepair 1000+ v1.262 CFH Lilian Downie Added comment: Comment when marking as ready: This deficiency, with biallelic form can cause atypical hemolytic uremic syndrome (HUS), type II or III membranoproliferative glomerulonephritis (MPGN) and increased susceptibility to meningicoccal infection. Can be early onset and severe requiring renal transplant. Variable expression

Gene also known as HF1
Prepair 1000+ v1.262 CFH Lilian Downie Gene: cfh has been classified as Green List (High Evidence).
Prepair 1000+ v1.262 CFH Cassandra Muller reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: None; Publications: 7742208, 9312129, 10803850, 14978182; Phenotypes: Complement factor H deficiency, 609814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.262 CSTB Cassandra Muller reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: 9012407; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.262 CPT1A Cassandra Muller reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12189492, 25778941, 23430932; Phenotypes: CPT deficiency, hepatic, type IA, 255120 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.262 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Restrictive dermopathy, lethal, 275210 (3) to Mandibuloacral dysplasia, MIM# 248370
Prepair 1000+ v1.261 LMNA Zornitza Stark edited their review of gene: LMNA: Changed phenotypes: Mandibuloacral dysplasia, MIM# 248370
Prepair 1000+ v1.261 GNE Zornitza Stark Marked gene: GNE as ready
Prepair 1000+ v1.261 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Prepair 1000+ v1.261 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Inclusion body myopathy, autosomal recessive, 600737 (3) to Nonaka myopathy MIM#605820; Thrombocytopenia 12 with or without myopathy MIM#620757
Prepair 1000+ v1.260 GNE Zornitza Stark Publications for gene: GNE were set to
Prepair 1000+ v1.259 GNE Zornitza Stark Tag for review tag was added to gene: GNE.
Prepair 1000+ v1.259 GNE Zornitza Stark reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nonaka myopathy MIM#605820, Thrombocytopenia 12 with or without myopathy MIM#620757; Mode of inheritance: None
Prepair 1000+ v1.259 B9D1 Lilian Downie Marked gene: B9D1 as ready
Prepair 1000+ v1.259 B9D1 Lilian Downie Added comment: Comment when marking as ready: Promote to green when final list confirmed
Prepair 1000+ v1.259 B9D1 Lilian Downie Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.259 B9D1 Lilian Downie Publications for gene: B9D1 were set to 21493627; 24886560; 25920555
Prepair 1000+ v1.258 B9D1 Lilian Downie reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21493627, 24886560, 25920555, 32622957; Phenotypes: Joubert syndrome 27, MIM# 617120, Meckel syndrome 9, MIM# 614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 LGI4 Andrew Coventry reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28318499 16341215 31513940; Phenotypes: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 LAMB1 Andrew Coventry reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759 25925986 29888467 25925986 32548278 34606115 32548278 34606115; Phenotypes: Lissencephaly 5 MIM#615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 KRT85 Andrew Coventry reviewed gene: KRT85: Rating: AMBER; Mode of pathogenicity: None; Publications: 16525032 19865094 31273852 37178037; Phenotypes: Ectodermal dysplasia 4, hair/nail type MIM#602032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 JAK3 Andrew Coventry reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14615376 11668610 7481767 7481769 9354668 7659163 7481768 30032486 9753072; Phenotypes: Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 ITGB2 Andrew Coventry reviewed gene: ITGB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1968911 1694220 33957747 32279896 31374327; Phenotypes: Leukocyte adhesion deficiency MIM#116920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 ICOS Andrew Coventry reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577056 15507387 19380800 28861081 31858365 11343122 16982935 8438047; Phenotypes: Immunodeficiency, common variable, 1 MIM#607594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 COL4A4 Kate Scarff reviewed gene: COL4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301386; Phenotypes: Alport syndrome 2, autosomal recessive MIM# 203780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.258 EPM2A Lilian Downie Marked gene: EPM2A as ready
Prepair 1000+ v1.258 EPM2A Lilian Downie Gene: epm2a has been classified as Green List (High Evidence).
Prepair 1000+ v1.258 EPM2A Lilian Downie Publications for gene: EPM2A were set to 9771710 9931343 11175283 12019207 12560877 14722920; 30947044; 22036712; 16311711; 28818698
Prepair 1000+ v1.257 EPM2A Lilian Downie Publications for gene: EPM2A were set to
Prepair 1000+ v1.256 FREM1 Lilian Downie Marked gene: FREM1 as ready
Prepair 1000+ v1.256 FREM1 Lilian Downie Added comment: Comment when marking as ready: 2 AR phenotypes with this gene - have not been assessed by ClinGen yet but appear to be spectrum of the same condition.
Prepair 1000+ v1.256 FREM1 Lilian Downie Gene: frem1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.256 FREM1 Lilian Downie Phenotypes for gene: FREM1 were changed from Bifid nose with or without anorectal and renal anomalies, 608980 (3) to Manitoba oculotrichoanal syndrome MIM# 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980
Prepair 1000+ v1.255 FREM1 Lilian Downie Publications for gene: FREM1 were set to 32016392; 21931569; 21507892; 19732862; 20301721; 28111185; 19732862
Prepair 1000+ v1.254 FREM1 Lilian Downie Publications for gene: FREM1 were set to
Prepair 1000+ v1.253 FTO Lilian Downie Marked gene: FTO as ready
Prepair 1000+ v1.253 FTO Lilian Downie Added comment: Comment when marking as ready: Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness
Prepair 1000+ v1.253 FTO Lilian Downie Gene: fto has been classified as Green List (High Evidence).
Prepair 1000+ v1.253 FTO Lilian Downie Publications for gene: FTO were set to
Prepair 1000+ v1.252 KCNJ11 Shakira Heerah reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23345197, 32252216, 9356020; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.252 FTO Lilian Downie Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, coarse facies, and early death, 612938 (3) to Growth retardation, developmental delay, facial dysmorphism MIM#612938
Prepair 1000+ v1.251 COL17A1 Lilian Downie Marked gene: COL17A1 as ready
Prepair 1000+ v1.251 COL17A1 Lilian Downie Gene: col17a1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.251 COL17A1 Lilian Downie Phenotypes for gene: COL17A1 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) to Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787
Prepair 1000+ v1.250 COL17A1 Lilian Downie Publications for gene: COL17A1 were set to
Prepair 1000+ v1.249 GPC6 Lilian Downie Marked gene: GPC6 as ready
Prepair 1000+ v1.249 GPC6 Lilian Downie Gene: gpc6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.249 GPC6 Lilian Downie Publications for gene: GPC6 were set to
Prepair 1000+ v1.248 GPC6 Andrew Coventry reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194 32655339 37353964; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 COL17A1 Kate Scarff reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301304, 21357940; Phenotypes: Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 FTO Marta Cifuentes Ochoa reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: None; Publications: 19234441, 19559399, 26378117, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism MIM#612938, lethal polymalformative syndrome, Boissel type MONDO:0013050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 FREM1 Marta Cifuentes Ochoa reviewed gene: FREM1: Rating: ; Mode of pathogenicity: None; Publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185, 19732862; Phenotypes: Manitoba oculotrichoanal syndrome MIM# 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, oculotrichoanal syndrome MONDO:0009560, BNAR syndrome MONDO:0012165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 F2 Marta Cifuentes Ochoa changed review comment from: Prothrombin deficiency type I, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia.

HGNC approved symbol/name: F2
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families

Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein; to: Prothrombin deficiency type I, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia.

HGNC approved symbol/name: F2
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families

Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein

AD forms and multifactorial conditions described for this gene not reportable in screening context
Prepair 1000+ v1.248 EPM2A Marta Cifuentes Ochoa reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771710 9931343 11175283 12019207 12560877 14722920, 30947044, 22036712, 16311711, 28818698; Phenotypes: Myoclonic epilepsy of Lafora 1 MIM#254780, MONDO:0958199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 F2 Marta Cifuentes Ochoa reviewed gene: F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23852823; Phenotypes: Hypoprothrombinemia MIM# 613679, congenital prothrombin deficiency MONDO:0013361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 CBS Marta Cifuentes Ochoa reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 7506602, 10338090, 7967489, 27778219; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic MIM#236200, classic homocystinuria, MONDO:0009352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GNE Andrew Coventry changed review comment from: Nonaka myopathy - Well established gene disease relationship. However, age of onset of myopathy reported to usually occur between age 20 and 40. Marginal for childhood onset condition.

Thrombocytopenia - well reported association of affected individuals experiencing bleeding episodes that commence from neonatal to early childhood. Myopathy variably reported in those affected - possibly due to young age of individuals presenting with bleeding symptoms. Myopathy, when reported, occurs at similar age of onset to Nonaka. Publication (25257349) indicates myopathy onset in affected sibs at mid-late teens. Also reported renal complications at age 7. Mouse model for GNE knockout shows renal involvement (PMID: 17549255). Condition reported to have caused cerebral haemorrhages in neonatal period (PMID:29941673). Unsure if phenotypic variability of condition, and isolated bleeding phenotype (as in ClinGen) suitable or adequate for screening context.; to: Nonaka myopathy - Well established gene disease relationship. However, age of onset of myopathy reported to usually occur between age 20 and 40. Myopathy then progresses, usually over ~10 year period to then require wheelchair assistance for mobility. Severe condition but onset is marginal for childhood onset screening context.

Thrombocytopenia - well reported association of affected individuals experiencing bleeding episodes that commence from neonatal to early childhood. Myopathy variably reported in those affected - possibly due to young age of individuals presenting with bleeding symptoms. Myopathy, when reported, occurs at similar age of onset to Nonaka. Publication (25257349) indicates myopathy onset in affected sibs at mid-late teens. Also reported renal complications at age 7. Mouse model for GNE knockout shows renal involvement (PMID: 17549255). Condition reported to have caused cerebral haemorrhages in neonatal period (PMID:29941673). Unsure if phenotypic variability of condition, and isolated bleeding phenotype (as in ClinGen) suitable or adequate for screening context.
Prepair 1000+ v1.248 GNE Andrew Coventry reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: None; Publications: 25257349 17549255 25061177 30171045 29941673; Phenotypes: Nonaka myopathy MIM#605820, Thrombocytopenia 12 with or without myopathy MIM#620757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GNAT2 Andrew Coventry reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32203983 17251445 15557429 23580486 31058429 12077706 12205108 27718025 21107338 28041643; Phenotypes: Achromatopsia 4 MIM#613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GLA Shakira Heerah reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17224688, 29649853, 26937390, 20301469; Phenotypes: Fabry disease, 301500, (3); 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+ v1.248 FANCC Shakira Heerah reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 29376519, 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, 227645 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 GDF5 Andrew Coventry reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33333243 20683927 33872773; Phenotypes: Acromesomelic dysplasia 2A MIM#200700, Acromesomelic dysplasia 2B MIM#228900, Brachydactyly, type A1, C MIM#615072; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Prepair 1000+ v1.248 FKTN Andrew Coventry reviewed gene: FKTN: Rating: ; Mode of pathogenicity: None; Publications: 9690476 19017726 20301385 28680109 17036286; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276, Cardiomyopathy, dilated, 1X MIM#611615; Mode of inheritance: None
Prepair 1000+ v1.248 FAT4 Andrew Coventry reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106 24913602 24056717 22473091; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 F5 Andrew Coventry reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35593819 31121608; Phenotypes: Factor V deficiency MIM#227400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 EVC2 Andrew Coventry reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23220543 10700184 33050204; Phenotypes: Ellis-van Creveld syndrome MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 B3GALNT2 Shakira Heerah reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35338537, 38585583, 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 B3GALNT2 Shakira Heerah Deleted their review
Prepair 1000+ v1.248 B3GALNT2 Shakira Heerah reviewed gene: B3GALNT2: Rating: ; Mode of pathogenicity: None; Publications: 35338537, 38585583, 23453667, 33290285, 29791932, 29273094, 28688748, 28303321; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11, 615181 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 ERBB3 Andrew Coventry reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904 31752936 33497358 12548738 38009810; Phenotypes: Visceral neuropathy, familial, 1, autosomal recessive MIM#243180, Lethal congenital contractural syndrome 2 MIM#607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 EIF2B4 Andrew Coventry reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386 12707859 18263758 25843247 25761052 30014503 39139316; Phenotypes: Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.248 CIB2 Lilian Downie Marked gene: CIB2 as ready
Prepair 1000+ v1.248 CIB2 Lilian Downie Gene: cib2 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.248 CIB2 Lilian Downie Phenotypes for gene: CIB2 were changed from Usher syndrome, type IJ, 614869 (3) to Deafness, autosomal recessive 48 MIM#609439
Prepair 1000+ v1.247 CIB2 Lilian Downie Publications for gene: CIB2 were set to
Prepair 1000+ v1.246 CLCF1 Lilian Downie Marked gene: CLCF1 as ready
Prepair 1000+ v1.246 CLCF1 Lilian Downie Gene: clcf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.246 CLCF1 Lilian Downie Publications for gene: CLCF1 were set to
Prepair 1000+ v1.245 CLCN7 Lilian Downie Marked gene: CLCN7 as ready
Prepair 1000+ v1.245 CLCN7 Lilian Downie Gene: clcn7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.245 CLCN7 Lilian Downie Publications for gene: CLCN7 were set to
Prepair 1000+ v1.244 CCDC114 Lilian Downie Marked gene: CCDC114 as ready
Prepair 1000+ v1.244 CCDC114 Lilian Downie Gene: ccdc114 has been classified as Green List (High Evidence).
Prepair 1000+ v1.244 CCDC114 Lilian Downie Publications for gene: CCDC114 were set to
Prepair 1000+ v1.243 CCDC8 Lilian Downie Marked gene: CCDC8 as ready
Prepair 1000+ v1.243 CCDC8 Lilian Downie Added comment: Comment when marking as ready: Primordial dwarfism with normal intelligence, final adult height approx -5SD from the mean, subtle facial dysmorphism
Prepair 1000+ v1.243 CCDC8 Lilian Downie Gene: ccdc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.243 CCDC8 Lilian Downie Tag for review tag was added to gene: CCDC8.
Prepair 1000+ v1.243 CCDC8 Lilian Downie Publications for gene: CCDC8 were set to
Prepair 1000+ v1.242 CHRNG Lilian Downie Marked gene: CHRNG as ready
Prepair 1000+ v1.242 CHRNG Lilian Downie Gene: chrng has been classified as Green List (High Evidence).
Prepair 1000+ v1.242 CHRNG Lilian Downie Phenotypes for gene: CHRNG were changed from Escobar syndrome, 265000 (3) to Escobar syndrome (MIM# 265000); Multiple pterygium syndrome, lethal type, (MIM# 253290)
Prepair 1000+ v1.241 CHRNG Lilian Downie Publications for gene: CHRNG were set to
Prepair 1000+ v1.240 COQ6 Lilian Downie Marked gene: COQ6 as ready
Prepair 1000+ v1.240 COQ6 Lilian Downie Gene: coq6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.240 COQ6 Lilian Downie Publications for gene: COQ6 were set to
Prepair 1000+ v1.239 COQ8A Lilian Downie Marked gene: COQ8A as ready
Prepair 1000+ v1.239 COQ8A Lilian Downie Gene: coq8a has been classified as Green List (High Evidence).
Prepair 1000+ v1.239 COQ8A Lilian Downie Publications for gene: COQ8A were set to
Prepair 1000+ v1.238 COQ2 Lilian Downie Marked gene: COQ2 as ready
Prepair 1000+ v1.238 COQ2 Lilian Downie Gene: coq2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.238 COQ2 Lilian Downie Publications for gene: COQ2 were set to
Prepair 1000+ v1.237 CRTAP Lilian Downie Marked gene: CRTAP as ready
Prepair 1000+ v1.237 CRTAP Lilian Downie Gene: crtap has been classified as Green List (High Evidence).
Prepair 1000+ v1.237 CRTAP Lilian Downie Publications for gene: CRTAP were set to
Prepair 1000+ v1.236 CRTAP Ee Ming Wong reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 COQ2 Cassandra Muller reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17855635, 17332895; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 COQ8A Ee Ming Wong reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 COQ2 Cassandra Muller Deleted their review
Prepair 1000+ v1.236 COQ2 Cassandra Muller reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, 607426 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 COQ6 Ee Ming Wong reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28125198; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CHRNG Ee Ming Wong reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome (MIM# 265000), Multiple pterygium syndrome, lethal type, (MIM# 253290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CCDC8 Ee Ming Wong reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CCDC114 Ee Ming Wong reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Prepair 1000+ v1.236 CLCN7 Cassandra Muller reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19507210, 11207362, 11741829, 14584882, 19953639; Phenotypes: Osteopetrosis, autosomal recessive 4, 611490 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 CLCF1 Cassandra Muller changed review comment from: Severe early in life, can result in death. Features typically improve after 2 years.; to: Severe early in life and can result in early death.
Prepair 1000+ v1.236 CLCF1 Cassandra Muller reviewed gene: CLCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16782820, 21370513, 20400119; Phenotypes: Cold-induced sweating syndrome 2, 610313 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 CIB2 Cassandra Muller reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 29112224; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 ALG2 Lana Giameos reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33644825, 23404334, 24461433, 12684507, 30397276, 34980536, 34106226; Phenotypes: Congenital disorder of glycosylation, type Ii, MIM# 607906, Myasthenic syndrome, congenital, 14, MIM# 616228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.236 DYSF Zornitza Stark Marked gene: DYSF as ready
Prepair 1000+ v1.236 DYSF Zornitza Stark Gene: dysf has been classified as Green List (High Evidence).
Prepair 1000+ v1.236 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601 (3) to Miyoshi muscular dystrophy 1 MIM#254130; MONDO:0024545; Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601; MONDO:0009676; Myopathy, distal, with anterior tibial onset MIM#606768; MONDO:0011721
Prepair 1000+ v1.235 DYSF Zornitza Stark Publications for gene: DYSF were set to
Prepair 1000+ v1.234 DYSF Zornitza Stark reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.234 DYSF Marta Cifuentes Ochoa reviewed gene: DYSF: Rating: GREEN; Mode of pathogenicity: None; Publications: 37762951, 38540676, 36542547, 32400077; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.234 DYSF Marta Cifuentes Ochoa Deleted their review
Prepair 1000+ v1.234 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Prepair 1000+ v1.234 SURF1 Zornitza Stark Added comment: Comment when marking as ready: Agree Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 is the appropriate term to use.
Prepair 1000+ v1.234 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.234 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency, 256000 (3) to Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110
Prepair 1000+ v1.233 YIF1B Zornitza Stark Marked gene: YIF1B as ready
Prepair 1000+ v1.233 YIF1B Zornitza Stark Gene: yif1b has been classified as Red List (Low Evidence).
Prepair 1000+ v1.233 YIF1B Zornitza Stark Phenotypes for gene: YIF1B were changed from Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly to Kaya-Barakat-Masson syndrome, MIM# 619125
Prepair 1000+ v1.232 GTPBP2 Zornitza Stark Marked gene: GTPBP2 as ready
Prepair 1000+ v1.232 GTPBP2 Zornitza Stark Gene: gtpbp2 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.232 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Prepair 1000+ v1.232 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.232 AFF2 Zornitza Stark Marked gene: AFF2 as ready
Prepair 1000+ v1.232 AFF2 Zornitza Stark Gene: aff2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.232 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from Mental retardation, X-linked, FRAXE type, #309548 to Intellectual disability, X-linked, FRAXE type 309548
Prepair 1000+ v1.231 AFF2 Zornitza Stark Publications for gene: AFF2 were set to
Prepair 1000+ v1.230 AFF2 Zornitza Stark Classified gene: AFF2 as Amber List (moderate evidence)
Prepair 1000+ v1.230 AFF2 Zornitza Stark Gene: aff2 has been classified as Amber List (Moderate Evidence).
Prepair 1000+ v1.229 AFF2 Zornitza Stark reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, X-linked, FRAXE type 309548; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.229 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Prepair 1000+ v1.229 ACY1 Zornitza Stark Gene: acy1 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.229 DYSF Marta Cifuentes Ochoa Deleted their comment
Prepair 1000+ v1.229 DYSF Marta Cifuentes Ochoa commented on gene: DYSF: Miyoshi myopathy (MM) is the most common form of recessive distal myopathy in populations with founder mutations such as Libyan and Israeli Jewish population, Italian and Spanish populations.The typical age of onset of MM lies between 15 and 30 years

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

Myopathy, distal, with anterior tibial onset is a rare genetic neuromuscular disease with characteristics of a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.

HGNC approved symbol/name: DYSF
Is the phenotype(s) severe and onset <18yo ? ? chidhood, early adulthood to late onset
Known technical challenges? N but large‐scale copy number variants have been identified.
Gene reported in >3 independent families

Unsure due genotype/phenotype correlation and onset
Prepair 1000+ v1.229 DYSF Marta Cifuentes Ochoa reviewed gene: DYSF: Rating: AMBER; Mode of pathogenicity: None; Publications: 37762951, 38540676, 36542547, 32400077; Phenotypes: Miyoshi muscular dystrophy 1 MIM#254130, MONDO:0024545, Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601, MONDO:0009676, Myopathy, distal, with anterior tibial onset MIM#606768, MONDO:0011721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.229 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Prepair 1000+ v1.229 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Prepair 1000+ v1.229 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Prepair 1000+ v1.228 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, 606593 (3) to LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686
Prepair 1000+ v1.227 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Prepair 1000+ v1.226 LIG4 Zornitza Stark commented on gene: LIG4: Congenital onset, presents with combined immunodeficiency and features of radiosensitivity, chromosomal instability, pancytopenia, and developmental and growth delay.
Prepair 1000+ v1.226 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.226 ECHS1 Zornitza Stark Marked gene: ECHS1 as ready
Prepair 1000+ v1.226 ECHS1 Zornitza Stark Gene: echs1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.226 ECHS1 Zornitza Stark Publications for gene: ECHS1 were set to
Prepair 1000+ v1.225 CHM Zornitza Stark Tag for review tag was added to gene: CHM.
Prepair 1000+ v1.225 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Prepair 1000+ v1.225 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.225 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, 604928 (3) to Wolfram syndrome 2 MIM#604928; MONDO:0011502
Prepair 1000+ v1.224 CISD2 Zornitza Stark Publications for gene: CISD2 were set to
Prepair 1000+ v1.223 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Prepair 1000+ v1.223 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.223 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651 (3) to Leukoencephalopathy with ataxia MIM#615651; leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292
Prepair 1000+ v1.222 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Prepair 1000+ v1.221 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Prepair 1000+ v1.221 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.221 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, 204200 (3) to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Prepair 1000+ v1.220 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Prepair 1000+ v1.219 COL4A3 Zornitza Stark Marked gene: COL4A3 as ready
Prepair 1000+ v1.219 COL4A3 Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.219 COL4A3 Zornitza Stark Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780 (3) to Alport syndrome 3b, autosomal recessive MIM#620536; MONDO:0957811
Prepair 1000+ v1.218 COL4A3 Zornitza Stark Publications for gene: COL4A3 were set to
Prepair 1000+ v1.217 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Prepair 1000+ v1.217 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Prepair 1000+ v1.217 COLEC11 Zornitza Stark Phenotypes for gene: COLEC11 were changed from 3MC syndrome 2, 265050 (3) to 3MC syndrome 2, MIM# 265050; MONDO:0009927
Prepair 1000+ v1.216 COLEC11 Zornitza Stark Publications for gene: COLEC11 were set to
Prepair 1000+ v1.215 COLQ Zornitza Stark Marked gene: COLQ as ready
Prepair 1000+ v1.215 COLQ Zornitza Stark Gene: colq has been classified as Green List (High Evidence).
Prepair 1000+ v1.215 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 (3) to Myasthenic syndrome, congenital, 5 MIM#603034; MONDO:0011281
Prepair 1000+ v1.214 COLQ Zornitza Stark Publications for gene: COLQ were set to
Prepair 1000+ v1.213 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Prepair 1000+ v1.213 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.213 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from Ventriculomegaly with cystic kidney disease, 219730 (3) to Ventriculomegaly with cystic kidney disease, MIM# 219730; MONDO:0009063; Focal segmental glomerulosclerosis 9, MIM# 616220; MONDO:0014539
Prepair 1000+ v1.212 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Prepair 1000+ v1.211 DGAT1 Zornitza Stark Marked gene: DGAT1 as ready
Prepair 1000+ v1.211 DGAT1 Zornitza Stark Gene: dgat1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.211 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from ?Diarrhea 7, protein-losing enteropathy type to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; congenital diarrhoea 7 with exudative enteropathy MONDO:0014375
Prepair 1000+ v1.210 DGAT1 Zornitza Stark Publications for gene: DGAT1 were set to
Prepair 1000+ v1.209 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Prepair 1000+ v1.209 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence).
Prepair 1000+ v1.209 B3GALT6 Zornitza Stark Phenotypes for gene: B3GALT6 were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3) to 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
Prepair 1000+ v1.208 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Prepair 1000+ v1.208 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Prepair 1000+ v1.208 B3GLCT Zornitza Stark Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome, 261540 (3) to Peters-plus syndrome, MIM# 261540
Prepair 1000+ v1.207 B3GLCT Zornitza Stark Publications for gene: B3GLCT were set to
Prepair 1000+ v1.206 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Prepair 1000+ v1.206 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.206 APOPT1 Zornitza Stark Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, MIM#220110
Prepair 1000+ v1.205 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to
Prepair 1000+ v1.204 APOPT1 Zornitza Stark Tag new gene name tag was added to gene: APOPT1.
Prepair 1000+ v1.204 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Prepair 1000+ v1.204 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.204 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from Periventricular heterotopia with microcephaly, 608097 (3) to Periventricular heterotopia with microcephaly, MIM#608097
Prepair 1000+ v1.203 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Prepair 1000+ v1.202 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Prepair 1000+ v1.202 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Prepair 1000+ v1.202 ARL13B Zornitza Stark Publications for gene: ARL13B were set to
Prepair 1000+ v1.201 ARL13B Zornitza Stark reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.201 ASNS Zornitza Stark Marked gene: ASNS as ready
Prepair 1000+ v1.201 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Prepair 1000+ v1.201 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574 (3) to Asparagine synthetase deficiency, MIM#615574
Prepair 1000+ v1.200 ASNS Zornitza Stark Publications for gene: ASNS were set to
Prepair 1000+ v1.199 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Prepair 1000+ v1.199 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.199 CSMD1 Zornitza Stark Tag for review tag was added to gene: CSMD1.
Prepair 1000+ v1.199 ASCC1 Zornitza Stark Marked gene: ASCC1 as ready
Prepair 1000+ v1.199 ASCC1 Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.199 ASCC1 Zornitza Stark Phenotypes for gene: ASCC1 were changed from Spinal muscular atrophy with congenital bone fractures 2, MIM#616867 to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867; spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807
Prepair 1000+ v1.198 ASCC1 Zornitza Stark Publications for gene: ASCC1 were set to
Prepair 1000+ v1.197 AUH Zornitza Stark Marked gene: AUH as ready
Prepair 1000+ v1.197 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Prepair 1000+ v1.197 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, 250950 (3) to 3-methylglutaconic aciduria, type I, MIM# 250950; MONDO:0009610
Prepair 1000+ v1.196 AUH Zornitza Stark Publications for gene: AUH were set to
Prepair 1000+ v1.195 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Prepair 1000+ v1.195 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Prepair 1000+ v1.195 B4GALT7 Zornitza Stark Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3) to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; MONDO:0020682
Prepair 1000+ v1.194 B4GALT7 Zornitza Stark Publications for gene: B4GALT7 were set to
Prepair 1000+ v1.193 BRF1 Zornitza Stark Marked gene: BRF1 as ready
Prepair 1000+ v1.193 BRF1 Zornitza Stark Gene: brf1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.193 BRF1 Zornitza Stark Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome, 616202 (3) to Cerebellofaciodental syndrome, MIM# 616202; Cerebellar-facial-dental syndrome MONDO:0014529
Prepair 1000+ v1.192 BRF1 Zornitza Stark Publications for gene: BRF1 were set to
Prepair 1000+ v1.191 DLL3 Marta Cifuentes Ochoa reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394, 36506336; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300, MONDO:0020692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.191 HBA1 Zornitza Stark Publications for gene: HBA1 were set to
Prepair 1000+ v1.190 HBA1 Zornitza Stark Tag for review tag was added to gene: HBA1.
Prepair 1000+ v1.190 HBA2 Zornitza Stark Publications for gene: HBA2 were set to
Prepair 1000+ v1.189 HBA2 Zornitza Stark Tag for review tag was added to gene: HBA2.
Prepair 1000+ v1.189 BTK Zornitza Stark Marked gene: BTK as ready
Prepair 1000+ v1.189 BTK Zornitza Stark Gene: btk has been classified as Green List (High Evidence).
Prepair 1000+ v1.189 BTK Zornitza Stark Phenotypes for gene: BTK were changed from Agammaglobulinemia and isolated hormone deficiency, 307200 (3) to Agammaglobulinemia, X-linked 1 MIM#300755; Bruton-type agammaglobulinemia MONDO:0010421; Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615
Prepair 1000+ v1.188 BTK Zornitza Stark Publications for gene: BTK were set to
Prepair 1000+ v1.187 DGAT1 Marta Cifuentes Ochoa reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290, 31778854; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863, congenital diarrhea 7 with exudative enteropathy MONDO:0014375; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CRB2 Marta Cifuentes Ochoa reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 25557779, 27004616; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730, MONDO:0009063 Focal segmental glomerulosclerosis 9, MIM# 616220, MONDO:0014539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CEP152 Marta Cifuentes Ochoa changed review comment from: Primary microcephaly (head circumference more than 3 standard deviations below the age- and sex-matched population mean). Causes Intellectual disability.

Seckel syndrome is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, and a typical “bird-head” facial appearance.

Established gene-disease association.

Congenital onset, severe disorder

HGNC approved symbol/name: CEP152

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N

Gene reported in >3 independent families; to: Primary microcephaly (head circumference more than 3 standard deviations below the age- and sex-matched population mean). Causes Intellectual disability.

Seckel syndrome is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, facial dysmorphic features.

Established gene-disease association.

Congenital onset, severe disorder

HGNC approved symbol/name: CEP152

Is the phenotype(s) severe and onset <18yo ? Y

Known technical challenges? N

Gene reported in >3 independent families
Prepair 1000+ v1.187 COLQ Marta Cifuentes Ochoa changed review comment from: Patients with congenital myasthenic syndromes present clinically with onset of variable muscle weakness between infancy and adulthood.

Well established gene-disease association, more than 10 families reported.
HGNC approved symbol/name: COLQ
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges?N; to: Patients with congenital myasthenic syndromes present clinically with onset of variable muscle weakness between infancy and adulthood.
Presentations:
-neonatal: respiratory insufficiency, multiple joint contractures (often described as arthrogryposis multiplex congenita) resulting from a lack of fetal movement in utero. Feeding difficulties, poor suck and cry, choking spells, eyelid ptosis, and facial, bulbar, and generalized weakness.In some individuals, long face, narrow jaw, and a high-arched palate have been reported
-childhood: delayed motr milestones, fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness. Ptosis may involve one or both eyelids. Facial and bulbar weakness with nasal speech and difficulties in coughing and swallowing may be present.Spinal deformity or muscle atrophy may occur
-limb-girdle

Well established gene-disease association, more than 10 families reported.
HGNC approved symbol/name: COLQ
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges?N
Prepair 1000+ v1.187 COLQ Marta Cifuentes Ochoa reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253, 29478601, 23995276, 36835142; Phenotypes: Myasthenic syndrome, congenital, 5 MIM#603034, MONDO:0011281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 COLEC11 Marta Cifuentes Ochoa reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050, MONDO:0009927; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 COL4A3 Marta Cifuentes Ochoa reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24052634, 35419377, 39071776; Phenotypes: Alport syndrome 3b, autosomal recessive MIM#620536, MONDO:0957811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CLN3 Marta Cifuentes Ochoa Deleted their comment
Prepair 1000+ v1.187 CLN3 Marta Cifuentes Ochoa commented on gene: CLN3: Well established gene disease association.

Severe neurodegenerative disorder.

HGNC approved symbol/name: CLN3
Is the phenotype(s) severe and onset <18yo ? Y
Known technical challenges? N
Gene reported in >3 independent families
Prepair 1000+ v1.187 CLN3 Marta Cifuentes Ochoa reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855, 31926949; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CLCN2 Marta Cifuentes Ochoa reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23707145, 38173802, 29403011, 29403012; Phenotypes: Leukoencephalopathy with ataxia MIM#615651, leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0014292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CISD2 Marta Cifuentes Ochoa reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35055657, 29237418, 28335035, 27459537, 26230298, 17846994; Phenotypes: Wolfram syndrome 2 MIM#604928, MONDO:0011502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.187 CHM Marta Cifuentes Ochoa reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 31021898, 27506488, 27820636, 33110609; Phenotypes: Choroideremia MIM#303100, MONDO:0010557; 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+ v1.187 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Prepair 1000+ v1.187 CEP152 Zornitza Stark Gene: cep152 has been classified as Green List (High Evidence).
Prepair 1000+ v1.187 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from Seckel syndrome 5, 613823 (3) to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Prepair 1000+ v1.186 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Prepair 1000+ v1.185 C1QC Zornitza Stark Marked gene: C1QC as ready
Prepair 1000+ v1.185 C1QC Zornitza Stark Gene: c1qc has been classified as Green List (High Evidence).
Prepair 1000+ v1.185 C1QC Zornitza Stark Phenotypes for gene: C1QC were changed from C1q deficiency, 613652 (3) to C1q deficiency, MIM# 613652
Prepair 1000+ v1.184 C1QC Zornitza Stark Publications for gene: C1QC were set to
Prepair 1000+ v1.183 C1QC Zornitza Stark reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.183 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Prepair 1000+ v1.183 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Prepair 1000+ v1.183 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from Joubert syndrome 15, 614464 (3) to Joubert syndrome 15, MIM# 614464
Prepair 1000+ v1.182 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Prepair 1000+ v1.181 CEP41 Zornitza Stark reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.181 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Prepair 1000+ v1.181 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.181 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type, 253290 (3) to Multiple pterygium syndrome, lethal type, MIM#253290; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Prepair 1000+ v1.180 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Prepair 1000+ v1.179 ETFA Zornitza Stark Marked gene: ETFA as ready
Prepair 1000+ v1.179 ETFA Zornitza Stark Gene: etfa has been classified as Green List (High Evidence).
Prepair 1000+ v1.179 ETFA Zornitza Stark Publications for gene: ETFA were set to
Prepair 1000+ v1.178 FANCB Zornitza Stark Marked gene: FANCB as ready
Prepair 1000+ v1.178 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Prepair 1000+ v1.178 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Prepair 1000+ v1.178 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.178 CERS3 Zornitza Stark Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 (3) to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; MONDO:0014010
Prepair 1000+ v1.177 CERS3 Zornitza Stark Publications for gene: CERS3 were set to
Prepair 1000+ v1.176 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Prepair 1000+ v1.176 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.176 FUCA1 Zornitza Stark Phenotypes for gene: FUCA1 were changed from Fucosidosis, 230000 (3) to Fucosidosis, MIM# 230000
Prepair 1000+ v1.175 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Prepair 1000+ v1.175 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.175 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from Dursun syndrome, 612541 (3) to Dursun syndrome, MIM# 612541; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
Prepair 1000+ v1.174 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun syndrome, MIM# 612541, Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.174 GALT Zornitza Stark Marked gene: GALT as ready
Prepair 1000+ v1.174 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Prepair 1000+ v1.174 GALT Zornitza Stark Phenotypes for gene: GALT were changed from Galactosemia, 230400 (3) to Galactosemia MIM# 230400
Prepair 1000+ v1.173 CFTR Zornitza Stark Marked gene: CFTR as ready
Prepair 1000+ v1.173 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Prepair 1000+ v1.173 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from Cystic fibrosis, 219700 (3) to Cystic fibrosis, MIM#219700; MONDO:0009061
Prepair 1000+ v1.172 CFTR Zornitza Stark Publications for gene: CFTR were set to
Prepair 1000+ v1.171 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Prepair 1000+ v1.171 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.171 ABCC8 Zornitza Stark Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) to Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450
Prepair 1000+ v1.170 ABCC8 Zornitza Stark Publications for gene: ABCC8 were set to
Prepair 1000+ v1.169 ISPD Zornitza Stark Marked gene: ISPD as ready
Prepair 1000+ v1.169 ISPD Zornitza Stark Gene: ispd has been classified as Green List (High Evidence).
Prepair 1000+ v1.169 ISPD Zornitza Stark Publications for gene: ISPD were set to
Prepair 1000+ v1.168 ISPD Zornitza Stark Tag new gene name tag was added to gene: ISPD.
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Marked gene: BCAP31 as ready
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Added comment: Comment when marking as ready: Promote to Green at V2.
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Red List (Low Evidence).
Prepair 1000+ v1.168 BCAP31 Zornitza Stark Tag for review tag was added to gene: BCAP31.
Prepair 1000+ v1.168 GTPBP2 Zornitza Stark Tag for review tag was added to gene: GTPBP2.
Prepair 1000+ v1.168 GTPBP2 Zornitza Stark reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 28454995, 29449720, 30790272, 38852771, 38118446; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 YIF1B Zornitza Stark Tag for review tag was added to gene: YIF1B.
Prepair 1000+ v1.168 YIF1B Zornitza Stark edited their review of gene: YIF1B: Added comment: DEFINITIVE gene-disease association by ClinGen. Over 20 individuals now reported in the literature.; Changed publications: 33103737, 32006098, 36948290, 34373908
Prepair 1000+ v1.168 YIF1B Zornitza Stark reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 CFTR Marta Cifuentes Ochoa reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31199594, 19092437, 38153325, 26708955, 32172939; Phenotypes: Cystic fibrosis, MIM#219700, MONDO:0009061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 GALT Lucy Spencer reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 G6PC3 Lucy Spencer reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 FUCA1 Lucy Spencer reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 CERS3 Marta Cifuentes Ochoa reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701, 37128664; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023, MONDO:0014010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 FANCB Lucy Spencer reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM#300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 1000+ v1.168 ETFA Lucy Spencer reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 CHRNA1 Cassandra Muller reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18806275, 10195214, 12588888, 18252226, 36092864; Phenotypes: Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.168 MAN2B1 Lilian Downie Marked gene: MAN2B1 as ready
Prepair 1000+ v1.168 MAN2B1 Lilian Downie Gene: man2b1 has been classified as Green List (High Evidence).
Prepair 1000+ v1.168 MAN2B1 Lilian Downie Publications for gene: MAN2B1 were set to
Prepair 1000+ v1.167 MEGF8 Lilian Downie Marked gene: MEGF8 as ready
Prepair 1000+ v1.167 MEGF8 Lilian Downie Gene: megf8 has been classified as Green List (High Evidence).
Prepair 1000+ v1.167 MEGF8 Lilian Downie Publications for gene: MEGF8 were set to 23063620
Prepair 1000+ v1.166 MEGF8 Lilian Downie Publications for gene: MEGF8 were set to
Prepair 1000+ v1.165 MMADHC Lilian Downie Marked gene: MMADHC as ready
Prepair 1000+ v1.165 MMADHC Lilian Downie Gene: mmadhc has been classified as Green List (High Evidence).
Prepair 1000+ v1.165 MMADHC Lilian Downie Publications for gene: MMADHC were set to
Prepair 1000+ v1.164 MOCS2 Lilian Downie Marked gene: MOCS2 as ready
Prepair 1000+ v1.164 MOCS2 Lilian Downie Gene: mocs2 has been classified as Green List (High Evidence).
Prepair 1000+ v1.164 MOCS2 Lilian Downie Publications for gene: MOCS2 were set to
Prepair 1000+ v1.163 MOGS Lilian Downie Marked gene: MOGS as ready
Prepair 1000+ v1.163 MOGS Lilian Downie Added comment: Comment when marking as ready: To upgrade to green
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).