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Additional findings_Paediatric v0.2 CRYAB Zornitza Stark Added phenotypes Myofibrillar myopathy for gene: CRYAB
Additional findings_Paediatric v0.2 CRTAP Zornitza Stark Added phenotypes Osteogenesis imperfecta, type VII for gene: CRTAP
Additional findings_Paediatric v0.2 CRLF1 Zornitza Stark Added phenotypes Crisponi syndrome for gene: CRLF1
Additional findings_Paediatric v0.2 CREBBP Zornitza Stark Added phenotypes Rubinstein-Taybi syndrome for gene: CREBBP
Additional findings_Paediatric v0.2 CPT2 Zornitza Stark Added phenotypes Carnitine palmitoyltransferase 2 deficiency for gene: CPT2
Additional findings_Paediatric v0.2 CPT1A Zornitza Stark Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A
Additional findings_Paediatric v0.2 CPS1 Zornitza Stark Added phenotypes Carbamoylphosphate synthetase I deficiency for gene: CPS1
Additional findings_Paediatric v0.2 COLQ Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: COLQ
Additional findings_Paediatric v0.2 COL7A1 Zornitza Stark Added phenotypes Epidermolysis bullosa dystrophica for gene: COL7A1
Additional findings_Paediatric v0.2 COL6A3 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A3
Additional findings_Paediatric v0.2 COL6A2 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A2
Additional findings_Paediatric v0.2 COL6A1 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A1
Additional findings_Paediatric v0.2 COL5A2 Zornitza Stark Added phenotypes Ehlers-Danlos syndrome for gene: COL5A2
Additional findings_Paediatric v0.2 COL5A1 Zornitza Stark Added phenotypes Ehlers-Danlos syndrome, type I for gene: COL5A1
Additional findings_Paediatric v0.2 COL4A5 Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A5
Additional findings_Paediatric v0.2 COL4A4 Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A4
Additional findings_Paediatric v0.2 COL4A3 Zornitza Stark Added phenotypes Alport syndrome for gene: COL4A3
Additional findings_Paediatric v0.2 COL3A1 Zornitza Stark Added phenotypes Ehlers-Danlos syndrome, type IV for gene: COL3A1
Additional findings_Paediatric v0.2 COL2A1 Zornitza Stark Added phenotypes Stickler syndrome for gene: COL2A1
Additional findings_Paediatric v0.2 COL1A2 Zornitza Stark Added phenotypes Osteogenesis imperfecta, type II for gene: COL1A2
Additional findings_Paediatric v0.2 COL1A1 Zornitza Stark Added phenotypes Osteogenesis imperfecta, type I for gene: COL1A1
Additional findings_Paediatric v0.2 COL17A1 Zornitza Stark Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type for gene: COL17A1
Additional findings_Paediatric v0.2 COL11A2 Zornitza Stark Added phenotypes Otospondylomegaepiphyseal dysplasia for gene: COL11A2
Additional findings_Paediatric v0.2 COL11A1 Zornitza Stark Added phenotypes Stickler syndrome for gene: COL11A1
Additional findings_Paediatric v0.2 COCH Zornitza Stark Added phenotypes Deafness, non-syndromic, autosomal dominant for gene: COCH
Additional findings_Paediatric v0.2 CNGB3 Zornitza Stark Added phenotypes Achromatopsia-3 for gene: CNGB3
Additional findings_Paediatric v0.2 CLRN1 Zornitza Stark Added phenotypes Usher syndrome, type 3A for gene: CLRN1
Additional findings_Paediatric v0.2 CLN8 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 8 for gene: CLN8
Additional findings_Paediatric v0.2 CLN6 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 6 for gene: CLN6
Additional findings_Paediatric v0.2 CLN5 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 5 for gene: CLN5
Additional findings_Paediatric v0.2 CLN3 Zornitza Stark Added phenotypes Ceroid lipofuscinosis, neuronal, 3 for gene: CLN3
Additional findings_Paediatric v0.2 CLDN19 Zornitza Stark Added phenotypes Hypomagnesemia 5, renal, with ocular involvement for gene: CLDN19
Additional findings_Paediatric v0.2 CLDN14 Zornitza Stark Added phenotypes Hearing loss, non-syndromic, autosomal recessive for gene: CLDN14
Additional findings_Paediatric v0.2 CLCN5 Zornitza Stark Added phenotypes Dent disease for gene: CLCN5
Additional findings_Paediatric v0.2 CHRNG Zornitza Stark Added phenotypes Pterygium syndrome for gene: CHRNG
Additional findings_Paediatric v0.2 CHRNE Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRNE
Additional findings_Paediatric v0.2 CHRND Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRND
Additional findings_Paediatric v0.2 CHRNA1 Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRNA1
Additional findings_Paediatric v0.2 CHM Zornitza Stark Added phenotypes Choroideremia for gene: CHM
Additional findings_Paediatric v0.2 CHKB Zornitza Stark Added phenotypes Muscular dystrophy, congenital, megaconial type for gene: CHKB
Additional findings_Paediatric v0.2 CHD7 Zornitza Stark Added phenotypes CHARGE syndrome for gene: CHD7
Additional findings_Paediatric v0.2 CHD2 Zornitza Stark Added phenotypes Developmental delay, intellectual disability, epilepsy for gene: CHD2
Additional findings_Paediatric v0.2 CHAT Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHAT
Additional findings_Paediatric v0.2 CFTR Zornitza Stark Added phenotypes Cystic fibrosis for gene: CFTR
Additional findings_Paediatric v0.2 CFP Zornitza Stark Added phenotypes Properdin deficiency, X-linked for gene: CFP
Additional findings_Paediatric v0.2 CFL2 Zornitza Stark Added phenotypes Nemaline myopathy for gene: CFL2
Additional findings_Paediatric v0.2 CFC1 Zornitza Stark Added phenotypes Congenital heart defects for gene: CFC1
Additional findings_Paediatric v0.2 CEP290 Zornitza Stark Added phenotypes Joubert syndrome for gene: CEP290
Additional findings_Paediatric v0.2 CEP152 Zornitza Stark Added phenotypes Seckel syndrome for gene: CEP152
Additional findings_Paediatric v0.2 CDSN Zornitza Stark Added phenotypes Hypotrichosis for gene: CDSN
Additional findings_Paediatric v0.2 CDKN1C Zornitza Stark Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C
Additional findings_Paediatric v0.2 CDKL5 Zornitza Stark Added phenotypes Epileptic encephalopathy, early infantile, 2 for gene: CDKL5
Additional findings_Paediatric v0.2 CDH23 Zornitza Stark Added phenotypes Usher syndrome, type 1D for gene: CDH23
Additional findings_Paediatric v0.2 CDH23 Zornitza Stark Added phenotypes Deafness, autosomal recessive for gene: CDH23
Additional findings_Paediatric v0.2 CDAN1 Zornitza Stark Added phenotypes Anemia, congenital dyserythropoietic, type I for gene: CDAN1
Additional findings_Paediatric v0.2 CD40LG Zornitza Stark Added phenotypes Immunodeficiency, X-linked, with hyper-IgM for gene: CD40LG
Additional findings_Paediatric v0.2 CCDC40 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: CCDC40
Additional findings_Paediatric v0.2 CCDC39 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: CCDC39
Additional findings_Paediatric v0.2 CC2D2A Zornitza Stark Added phenotypes Joubert syndrome for gene: CC2D2A
Additional findings_Paediatric v0.2 CBS Zornitza Stark Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS
Additional findings_Paediatric v0.2 CBL Zornitza Stark Added phenotypes Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia for gene: CBL
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Added phenotypes Caveolinopathy for gene: CAV3
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type IC, for gene: CAV3
Additional findings_Paediatric v0.2 CASQ2 Zornitza Stark Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic for gene: CASQ2
Additional findings_Paediatric v0.2 CASK Zornitza Stark Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia for gene: CASK
Additional findings_Paediatric v0.2 CAPN3 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2A for gene: CAPN3
Additional findings_Paediatric v0.2 CACNA1F Zornitza Stark Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked for gene: CACNA1F
Additional findings_Paediatric v0.2 CACNA1A Zornitza Stark Added phenotypes Episodic ataxia, type 2 for gene: CACNA1A
Additional findings_Paediatric v0.2 CA2 Zornitza Stark Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis for gene: CA2
Additional findings_Paediatric v0.2 TWNK Zornitza Stark Added phenotypes Spinocerebellar ataxia infantile-onset for gene: TWNK
Additional findings_Paediatric v0.2 BTK Zornitza Stark Added phenotypes Agammaglobulinemia, X-linked 1 for gene: BTK
Additional findings_Paediatric v0.2 BTD Zornitza Stark Added phenotypes Biotinidase deficiency for gene: BTD
Additional findings_Paediatric v0.2 BSND Zornitza Stark Added phenotypes Bartter syndrome with sensorineural deafness for gene: BSND
Additional findings_Paediatric v0.2 BSCL2 Zornitza Stark Added phenotypes Berardinelli-Seip lipodystrophy for gene: BSCL2
Additional findings_Paediatric v0.2 BRCA2 Zornitza Stark Added phenotypes Fanconi anemia, complementation group D1 for gene: BRCA2
Additional findings_Paediatric v0.2 BRAF Zornitza Stark Added phenotypes Cardiofaciocutaneous syndrome for gene: BRAF
Additional findings_Paediatric v0.2 BMPR1A Zornitza Stark Added phenotypes Juvenile polyposis syndrome for gene: BMPR1A
Additional findings_Paediatric v0.2 BLM Zornitza Stark Added phenotypes Bloom syndrome for gene: BLM
Additional findings_Paediatric v0.2 BIN1 Zornitza Stark Added phenotypes Myopathy, centronuclear, autosomal recessive for gene: BIN1
Additional findings_Paediatric v0.2 BICD2 Zornitza Stark Added phenotypes Congenital spinal muscular atrophy for gene: BICD2
Additional findings_Paediatric v0.2 BCS1L Zornitza Stark Added phenotypes Complex 3 deficiency for gene: BCS1L
Additional findings_Paediatric v0.2 BCKDHB Zornitza Stark Added phenotypes Maple syrup urine disease for gene: BCKDHB
Additional findings_Paediatric v0.2 BCKDHA Zornitza Stark Added phenotypes Maple syrup urine disease for gene: BCKDHA
Additional findings_Paediatric v0.2 BBS9 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS9
Additional findings_Paediatric v0.2 BBS7 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS7
Additional findings_Paediatric v0.2 BBS5 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS5
Additional findings_Paediatric v0.2 BBS4 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS4
Additional findings_Paediatric v0.2 BBS2 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS2
Additional findings_Paediatric v0.2 BBS12 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS12
Additional findings_Paediatric v0.2 BBS10 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS10
Additional findings_Paediatric v0.2 BBS1 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS1
Additional findings_Paediatric v0.2 BAAT Zornitza Stark Added phenotypes Bile acid amidation defect for gene: BAAT
Additional findings_Paediatric v0.2 B3GLCT Zornitza Stark Added phenotypes Peters-Plus syndrome for gene: B3GLCT
Additional findings_Paediatric v0.2 AVPR2 Zornitza Stark Added phenotypes Diabetes insipidus, nephrogenic for gene: AVPR2
Additional findings_Paediatric v0.2 AUH Zornitza Stark Added phenotypes 3-methylglutaconic aciduria, type I for gene: AUH
Additional findings_Paediatric v0.2 ATRX Zornitza Stark Added phenotypes Alpha-thalassemia/mental retardation syndrome for gene: ATRX
Additional findings_Paediatric v0.2 ATP8B1 Zornitza Stark Added phenotypes Cholestasis, progressive familial intrahepatic 1 for gene: ATP8B1
Additional findings_Paediatric v0.2 ATP7B Zornitza Stark Added phenotypes Wilson disease for gene: ATP7B
Additional findings_Paediatric v0.2 ATP7A Zornitza Stark Added phenotypes Occipital horn syndrome for gene: ATP7A
Additional findings_Paediatric v0.2 ATP7A Zornitza Stark Added phenotypes Menkes syndrome for gene: ATP7A
Additional findings_Paediatric v0.2 ATP6V1B1 Zornitza Stark Added phenotypes Renal tubular acidosis & hearing loss for gene: ATP6V1B1
Additional findings_Paediatric v0.2 ATP6V0A2 Zornitza Stark Added phenotypes Cutis laxa, autosomal recessive, type IIA for gene: ATP6V0A2
Additional findings_Paediatric v0.2 ATP2A1 Zornitza Stark Added phenotypes Brody myopathy for gene: ATP2A1
Additional findings_Paediatric v0.2 ATP1A2 Zornitza Stark Added phenotypes Hemiplegic migraine for gene: ATP1A2
Additional findings_Paediatric v0.2 ATM Zornitza Stark Added phenotypes Ataxia-telangiectasia for gene: ATM
Additional findings_Paediatric v0.2 ASS1 Zornitza Stark Added phenotypes Citrullinemia for gene: ASS1
Additional findings_Paediatric v0.2 ASPA Zornitza Stark Added phenotypes Canavan disease for gene: ASPA
Additional findings_Paediatric v0.2 ASL Zornitza Stark Added phenotypes Argininosuccinic aciduria for gene: ASL
Additional findings_Paediatric v0.2 ARX Zornitza Stark Added phenotypes Lissencephaly, X-linked 2 for gene: ARX
Additional findings_Paediatric v0.2 ARSB Zornitza Stark Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) for gene: ARSB
Additional findings_Paediatric v0.2 ARSA Zornitza Stark Added phenotypes Metachromatic leukodystrophy for gene: ARSA
Additional findings_Paediatric v0.2 ARMC4 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: ARMC4
Additional findings_Paediatric v0.2 ARID1B Zornitza Stark Added phenotypes Coffin-Siris syndrome for gene: ARID1B
Additional findings_Paediatric v0.2 ARG1 Zornitza Stark Added phenotypes Arginase deficiency for gene: ARG1
Additional findings_Paediatric v0.2 ARFGEF2 Zornitza Stark Added phenotypes Periventricular heterotopia with microcephaly for gene: ARFGEF2
Additional findings_Paediatric v0.2 AR Zornitza Stark Added phenotypes Androgen insensitivity for gene: AR
Additional findings_Paediatric v0.2 APTX Zornitza Stark Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia for gene: APTX
Additional findings_Paediatric v0.2 APOB Zornitza Stark Added phenotypes Apolipoprotein B deficiency for gene: APOB
Additional findings_Paediatric v0.2 APC Zornitza Stark Added phenotypes Adenomatous polyposis coli, attenuated for gene: APC
Additional findings_Paediatric v0.2 APC Zornitza Stark Added phenotypes Adenomatous polyposis coli for gene: APC
Additional findings_Paediatric v0.2 AP3B1 Zornitza Stark Added phenotypes Hermansky-Pudlak syndrome 2 for gene: AP3B1
Additional findings_Paediatric v0.2 ANTXR2 Zornitza Stark Added phenotypes Hyaline fibromatosis syndrome for gene: ANTXR2
Additional findings_Paediatric v0.2 ANO5 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2L for gene: ANO5
Additional findings_Paediatric v0.2 ANO10 Zornitza Stark Added phenotypes Spinocerebellar ataxia, autosomal recessive 10 for gene: ANO10
Additional findings_Paediatric v0.2 ANKRD26 Zornitza Stark Added phenotypes Thrombocytopenia 2 for gene: ANKRD26
Additional findings_Paediatric v0.2 ANKH Zornitza Stark Added phenotypes Craniometaphyseal dysplasia for gene: ANKH
Additional findings_Paediatric v0.2 ANK1 Zornitza Stark Added phenotypes Spherocytosis for gene: ANK1
Additional findings_Paediatric v0.2 AMT Zornitza Stark Added phenotypes Hyperglycinaemia, non-ketotic for gene: AMT
Additional findings_Paediatric v0.2 AMN Zornitza Stark Added phenotypes Megaloblastic anemia-1, Norwegian type for gene: AMN
Additional findings_Paediatric v0.2 AMELX Zornitza Stark Added phenotypes Amelogenesis imperfecta for gene: AMELX
Additional findings_Paediatric v0.2 ALX4 Zornitza Stark Added phenotypes Parietal foramina 2 for gene: ALX4
Additional findings_Paediatric v0.2 ALS2 Zornitza Stark Added phenotypes Amyotrophic lateral sclerosis for gene: ALS2
Additional findings_Paediatric v0.2 ALPL Zornitza Stark Added phenotypes Hypophosphatasia for gene: ALPL
Additional findings_Paediatric v0.2 ALOXE3 Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOXE3
Additional findings_Paediatric v0.2 ALOX12B Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOX12B
Additional findings_Paediatric v0.2 ALMS1 Zornitza Stark Added phenotypes Alstrom syndrome for gene: ALMS1
Additional findings_Paediatric v0.2 ALG8 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ih for gene: ALG8
Additional findings_Paediatric v0.2 ALG6 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ic for gene: ALG6
Additional findings_Paediatric v0.2 ALG3 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Id for gene: ALG3
Additional findings_Paediatric v0.2 ALG12 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ig for gene: ALG12
Additional findings_Paediatric v0.2 ALG1 Zornitza Stark Added phenotypes Congenital disorder of glycosylation, type Ik for gene: ALG1
Additional findings_Paediatric v0.2 ALDOB Zornitza Stark Added phenotypes Fructose intolerance for gene: ALDOB
Additional findings_Paediatric v0.2 ALDH5A1 Zornitza Stark Added phenotypes Succinic semialdehyde dehydrogenase deficiency for gene: ALDH5A1
Additional findings_Paediatric v0.2 ALDH3A2 Zornitza Stark Added phenotypes Sjogren-Larsson syndrome for gene: ALDH3A2
Additional findings_Paediatric v0.2 ALDH18A1 Zornitza Stark Added phenotypes Cutis laxa, autosomal recessive, type IIIA for gene: ALDH18A1
Additional findings_Paediatric v0.2 ALB Zornitza Stark Added phenotypes Analbuminemia for gene: ALB
Additional findings_Paediatric v0.2 ALAS2 Zornitza Stark Added phenotypes Anemia, sideroblastic, X-linked for gene: ALAS2
Additional findings_Paediatric v0.2 AKR1D1 Zornitza Stark Added phenotypes Bile acid synthesis defect, congenital, 2 for gene: AKR1D1
Additional findings_Paediatric v0.2 AIRE Zornitza Stark Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia for gene: AIRE
Additional findings_Paediatric v0.2 AIFM1 Zornitza Stark Added phenotypes Cowchock syndrome for gene: AIFM1
Additional findings_Paediatric v0.2 AHI1 Zornitza Stark Added phenotypes Joubert syndrome-3 for gene: AHI1
Additional findings_Paediatric v0.2 AGXT Zornitza Stark Added phenotypes Hyperoxaluria, primary, type 1 for gene: AGXT
Additional findings_Paediatric v0.2 AGRN Zornitza Stark Added phenotypes Myasthenia, limb-girdle, familial for gene: AGRN
Additional findings_Paediatric v0.2 AGL Zornitza Stark Added phenotypes Glycogen storage disease IIIa for gene: AGL
Additional findings_Paediatric v0.2 AGA Zornitza Stark Added phenotypes Aspartylglucosaminuria for gene: AGA
Additional findings_Paediatric v0.2 ADK Zornitza Stark Added phenotypes Hypermethioninemia due to adenosine kinase deficiency for gene: ADK
Additional findings_Paediatric v0.2 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR
Additional findings_Paediatric v0.2 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome for gene: ADAR
Additional findings_Paediatric v0.2 ADAMTSL2 Zornitza Stark Added phenotypes Geleophysic dysplasia 1 for gene: ADAMTSL2
Additional findings_Paediatric v0.2 ADAMTS13 Zornitza Stark Added phenotypes Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Additional findings_Paediatric v0.2 ADA Zornitza Stark Added phenotypes Severe combined immunodeficiency due to ADA deficiency for gene: ADA
Additional findings_Paediatric v0.2 ACVRL1 Zornitza Stark Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Additional findings_Paediatric v0.2 ACVR1 Zornitza Stark Added phenotypes Fibrodysplasia ossificans progressiva for gene: ACVR1
Additional findings_Paediatric v0.2 ACTN4 Zornitza Stark Added phenotypes Glomerulosclerosis, focal segmental, 1 for gene: ACTN4
Additional findings_Paediatric v0.2 ACTN1 Zornitza Stark Added phenotypes Macrothrombocytopenia for gene: ACTN1
Additional findings_Paediatric v0.2 ACTG2 Zornitza Stark Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: ACTG2
Additional findings_Paediatric v0.2 ACTG1 Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1
Additional findings_Paediatric v0.2 ACTG1 Zornitza Stark Added phenotypes Deafness, autosomal dominant for gene: ACTG1
Additional findings_Paediatric v0.2 ACTB Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTB
Additional findings_Paediatric v0.2 ACTA1 Zornitza Stark Added phenotypes Nemaline myopathy for gene: ACTA1
Additional findings_Paediatric v0.2 ACSF3 Zornitza Stark Added phenotypes Combined malonic and methylmalonic aciduria for gene: ACSF3
Additional findings_Paediatric v0.2 ACOX1 Zornitza Stark Added phenotypes Peroxisomal acyl-CoA oxidase deficiency for gene: ACOX1
Additional findings_Paediatric v0.2 ACE Zornitza Stark Added phenotypes Renal tubular dysgenesis for gene: ACE
Additional findings_Paediatric v0.2 ACAT1 Zornitza Stark Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1
Additional findings_Paediatric v0.2 ACADVL Zornitza Stark Added phenotypes VLCAD deficiency for gene: ACADVL
Additional findings_Paediatric v0.2 ACADM Zornitza Stark Added phenotypes Medium chain acyl CoA dehydrogenase deficiency for gene: ACADM
Additional findings_Paediatric v0.2 ACAD9 Zornitza Stark Added phenotypes ACAD9 deficiency for gene: ACAD9
Additional findings_Paediatric v0.2 ACAD8 Zornitza Stark Added phenotypes Isobutyryl-CoA dehydrogenase deficiency for gene: ACAD8
Additional findings_Paediatric v0.2 ABCG5 Zornitza Stark Added phenotypes Sitosterolemia for gene: ABCG5
Additional findings_Paediatric v0.2 ABCD1 Zornitza Stark Added phenotypes Adrenoleukodystrophy for gene: ABCD1
Additional findings_Paediatric v0.2 ABCC9 Zornitza Stark Added phenotypes Hypertrichotic osteochondrodysplasia for gene: ABCC9
Additional findings_Paediatric v0.2 ABCC8 Zornitza Stark Added phenotypes Hyperinsulinemic hypoglycemia, familial for gene: ABCC8
Additional findings_Paediatric v0.2 ABCC6 Zornitza Stark Added phenotypes Pseudoxanthoma elasticum for gene: ABCC6
Additional findings_Paediatric v0.2 ABCB4 Zornitza Stark Added phenotypes Cholestasis, progressive familial intrahepatic 3 for gene: ABCB4
Additional findings_Paediatric v0.2 ABCB11 Zornitza Stark Added phenotypes Cholestasis, progressive familial intrahepatic 2 for gene: ABCB11
Additional findings_Paediatric v0.2 ABCA4 Zornitza Stark Added phenotypes Stargardt disease for gene: ABCA4
Additional findings_Paediatric v0.2 ABCA3 Zornitza Stark Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3 for gene: ABCA3
Additional findings_Paediatric v0.2 ABCA12 Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ABCA12
Additional findings_Paediatric v0.2 AARS Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: AARS
Additional findings_Paediatric v0.2 AAAS Zornitza Stark Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS
Periventricular Grey Matter Heterotopia v0.18 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Periventricular Grey Matter Heterotopia v0.18 FAT4 Zornitza Stark Gene: fat4 has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v0.18 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from to Van Maldergem syndrome 2, MIM# 615546
Periventricular Grey Matter Heterotopia v0.17 FAT4 Zornitza Stark Publications for gene: FAT4 were set to
Periventricular Grey Matter Heterotopia v0.16 FAT4 Zornitza Stark Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.15 FAT4 Zornitza Stark Classified gene: FAT4 as Amber List (moderate evidence)
Periventricular Grey Matter Heterotopia v0.15 FAT4 Zornitza Stark Gene: fat4 has been classified as Amber List (Moderate Evidence).
Periventricular Grey Matter Heterotopia v0.14 FAT4 Zornitza Stark reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22473091, 24056717; Phenotypes: Van Maldergem syndrome 2, MIM# 615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.0 PDZD7 Zornitza Stark gene: PDZD7 was added
gene: PDZD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDZD7 were set to Usher syndrome
Additional findings_Paediatric v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal
Additional findings_Paediatric v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I
Additional findings_Paediatric v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome
Additional findings_Paediatric v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId
Additional findings_Paediatric v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma
Additional findings_Paediatric v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis II
Additional findings_Paediatric v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy
Additional findings_Paediatric v0.0 GNAS Zornitza Stark Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS
Additional findings_Paediatric v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNAS was set to Unknown
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism
Additional findings_Paediatric v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLUD1 were set to Hyperinsulinism
Additional findings_Paediatric v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive
Additional findings_Paediatric v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome
Additional findings_Paediatric v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy
Additional findings_Paediatric v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Gangliosidosis GM1
Additional findings_Paediatric v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease
Additional findings_Paediatric v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease
Additional findings_Paediatric v0.0 GJB2 Zornitza Stark Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness and palmoplantar keratoderma for gene: GJB2
Additional findings_Paediatric v0.0 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJB2 were set to Deafness
Additional findings_Paediatric v0.0 GJB1 Zornitza Stark gene: GJB1 was added
gene: GJB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy
Additional findings_Paediatric v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GJA1 were set to Oculodentodigital dysplasia
Additional findings_Paediatric v0.0 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIPC3 were set to Hearing loss
Additional findings_Paediatric v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle
Additional findings_Paediatric v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1
Additional findings_Paediatric v0.0 GFAP Zornitza Stark gene: GFAP was added
gene: GFAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GFAP were set to Alexander disease
Additional findings_Paediatric v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 GCK Zornitza Stark gene: GCK was added
gene: GCK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial
Additional findings_Paediatric v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I
Additional findings_Paediatric v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV
Additional findings_Paediatric v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease 1
Additional findings_Paediatric v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA4 were set to Congenital heart defects
Additional findings_Paediatric v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Dyserythropoietic anemia with thrombocytopenia
Additional findings_Paediatric v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy
Additional findings_Paediatric v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosaemia
Additional findings_Paediatric v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA
Additional findings_Paediatric v0.0 GALK1 Zornitza Stark gene: GALK1 was added
gene: GALK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts
Additional findings_Paediatric v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease
Additional findings_Paediatric v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II
Additional findings_Paediatric v0.0 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency
Additional findings_Paediatric v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Neutropaenia, congenital
Additional findings_Paediatric v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia
Additional findings_Paediatric v0.0 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia
Additional findings_Paediatric v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis
Additional findings_Paediatric v0.0 FTL Zornitza Stark gene: FTL was added
gene: FTL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FTL were set to Neuroferritinopathy
Additional findings_Paediatric v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome
Additional findings_Paediatric v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to IPEX syndrome
Additional findings_Paediatric v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Additional findings_Paediatric v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema, primary
Additional findings_Paediatric v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome
Additional findings_Paediatric v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder
Additional findings_Paediatric v0.0 FLCN Zornitza Stark gene: FLCN was added
gene: FLCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome
Additional findings_Paediatric v0.0 FKTN Zornitza Stark Added phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies for gene: FKTN
Additional findings_Paediatric v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama
Additional findings_Paediatric v0.0 FKRP Zornitza Stark Added phenotypes Muscle-eye-brain disease for gene: FKRP
Additional findings_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy, limb girdle 2I
Additional findings_Paediatric v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy
Additional findings_Paediatric v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency
Additional findings_Paediatric v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenaemia
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Muenke syndrome for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Thanatophoric dysplasia type 1 for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Crouzon syndrome with acanthosis nigricans for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark Added phenotypes Hypochondroplasia for gene: FGFR3
Additional findings_Paediatric v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to Achondroplasia
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Jackson-Weiss syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Beare-Stevenson cutis gyrata syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Crouzon syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Apert syndrome for gene: FGFR2
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR2 were set to Pfeiffer syndrome
Additional findings_Paediatric v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Kallmann syndrome
Additional findings_Paediatric v0.0 FGF3 Zornitza Stark gene: FGF3 was added
gene: FGF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia
Additional findings_Paediatric v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome
Additional findings_Paediatric v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenaemia
Additional findings_Paediatric v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenaemia
Additional findings_Paediatric v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly
Additional findings_Paediatric v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan's syndrome
Additional findings_Paediatric v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa
Additional findings_Paediatric v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anaemia
Additional findings_Paediatric v0.0 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations
Additional findings_Paediatric v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Osteosclerotic bone dysplasia
Additional findings_Paediatric v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to Retinal dystrophy
Additional findings_Paediatric v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract
Additional findings_Paediatric v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I
Additional findings_Paediatric v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Hemophilia B
Additional findings_Paediatric v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Hemophilia A
Additional findings_Paediatric v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Prothrombin deficiency
Additional findings_Paediatric v0.0 F11 Zornitza Stark gene: F11 was added
gene: F11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: F11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F11 were set to Factor XI deficiency
Additional findings_Paediatric v0.0 EZH2 Zornitza Stark gene: EZH2 was added
gene: EZH2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EZH2 were set to Weaver syndrome 2
Additional findings_Paediatric v0.0 EYA4 Zornitza Stark gene: EYA4 was added
gene: EYA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EYA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA4 were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.0 EYA1 Zornitza Stark gene: EYA1 was added
gene: EYA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome
Additional findings_Paediatric v0.0 EXT2 Zornitza Stark gene: EXT2 was added
gene: EXT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Additional findings_Paediatric v0.0 EXT1 Zornitza Stark gene: EXT1 was added
gene: EXT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EXT1 were set to Exostoses, multiple, type 1
Additional findings_Paediatric v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome
Additional findings_Paediatric v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome
Additional findings_Paediatric v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy
Additional findings_Paediatric v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC
Additional findings_Paediatric v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB
Additional findings_Paediatric v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA
Additional findings_Paediatric v0.0 ESRRB Zornitza Stark gene: ESRRB was added
gene: ESRRB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESRRB were set to Hearing loss
Additional findings_Paediatric v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to Roberts syndrome
Additional findings_Paediatric v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome
Additional findings_Paediatric v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome
Additional findings_Paediatric v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)
Additional findings_Paediatric v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1
Additional findings_Paediatric v0.0 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
Additional findings_Paediatric v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss
Additional findings_Paediatric v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Supravalvar aortic stenosis
Additional findings_Paediatric v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ELANE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELANE were set to Neutropenia, congenital
Additional findings_Paediatric v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome
Additional findings_Paediatric v0.0 EGR2 Zornitza Stark gene: EGR2 was added
gene: EGR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly
Additional findings_Paediatric v0.0 EFHC1 Zornitza Stark gene: EFHC1 was added
gene: EFHC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EFHC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EFHC1 were set to Myoclonic epilepsy
Additional findings_Paediatric v0.0 EDARADD Zornitza Stark gene: EDARADD was added
gene: EDARADD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 DYSF Zornitza Stark Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF
Additional findings_Paediatric v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B
Additional findings_Paediatric v0.0 DUOX2 Zornitza Stark gene: DUOX2 was added
gene: DUOX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis
Additional findings_Paediatric v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic
Additional findings_Paediatric v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij
Additional findings_Paediatric v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE syndrome
Additional findings_Paediatric v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Additional findings_Paediatric v0.0 DNM2 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2M for gene: DNM2
Additional findings_Paediatric v0.0 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNM2 were set to Myopathy, centronuclear
Additional findings_Paediatric v0.0 DNAJB6 Zornitza Stark gene: DNAJB6 was added
gene: DNAJB6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle
Additional findings_Paediatric v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1
Additional findings_Paediatric v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR
Additional findings_Paediatric v0.0 DMD Zornitza Stark Added phenotypes Becker muscular dystrophy for gene: DMD
Additional findings_Paediatric v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy
Additional findings_Paediatric v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis, autosomal recessive, 1
Additional findings_Paediatric v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Maple syrup urine disease, type III
Additional findings_Paediatric v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome
Additional findings_Paediatric v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome
Additional findings_Paediatric v0.0 DFNB59 Zornitza Stark gene: DFNB59 was added
gene: DFNB59 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DFNB59 were set to Hearing loss
Additional findings_Paediatric v0.0 DFNA5 Zornitza Stark gene: DFNA5 was added
gene: DFNA5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DFNA5 were set to Hearing loss
Additional findings_Paediatric v0.0 DES Zornitza Stark gene: DES was added
gene: DES was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DES were set to Myopathy, myofibrillar
Additional findings_Paediatric v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency
Additional findings_Paediatric v0.0 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum
Additional findings_Paediatric v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked
Additional findings_Paediatric v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type
Additional findings_Paediatric v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease
Additional findings_Paediatric v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
Additional findings_Paediatric v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I
Additional findings_Paediatric v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
Additional findings_Paediatric v0.0 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Additional findings_Paediatric v0.0 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Additional findings_Paediatric v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete
Additional findings_Paediatric v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease
Additional findings_Paediatric v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease
Additional findings_Paediatric v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome
Additional findings_Paediatric v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUBN were set to Megaloblastic anemia-1, Finnish type
Additional findings_Paediatric v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis
Additional findings_Paediatric v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10
Additional findings_Paediatric v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis
Additional findings_Paediatric v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Coats plus syndrome
Additional findings_Paediatric v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A
Additional findings_Paediatric v0.0 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CSF2RA were set to Pulmonary alveolar proteinosis
Additional findings_Paediatric v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRYAB were set to Myofibrillar myopathy
Additional findings_Paediatric v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII
Additional findings_Paediatric v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Crisponi syndrome
Additional findings_Paediatric v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome
Additional findings_Paediatric v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency
Additional findings_Paediatric v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency
Additional findings_Paediatric v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency
Additional findings_Paediatric v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL7A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica
Additional findings_Paediatric v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL5A2 Zornitza Stark gene: COL5A2 was added
gene: COL5A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome
Additional findings_Paediatric v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, type I
Additional findings_Paediatric v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COL4A5 were set to Alport syndrome
Additional findings_Paediatric v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome
Additional findings_Paediatric v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A3 were set to Alport syndrome
Additional findings_Paediatric v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV
Additional findings_Paediatric v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Stickler syndrome
Additional findings_Paediatric v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A2 were set to Osteogenesis imperfecta, type II
Additional findings_Paediatric v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta, type I
Additional findings_Paediatric v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type
Additional findings_Paediatric v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A2 were set to Otospondylomegaepiphyseal dysplasia
Additional findings_Paediatric v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL11A1 were set to Stickler syndrome
Additional findings_Paediatric v0.0 COCH Zornitza Stark gene: COCH was added
gene: COCH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COCH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COCH were set to Deafness, non-syndromic, autosomal dominant
Additional findings_Paediatric v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Achromatopsia-3
Additional findings_Paediatric v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A
Additional findings_Paediatric v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8
Additional findings_Paediatric v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6
Additional findings_Paediatric v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5
Additional findings_Paediatric v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3
Additional findings_Paediatric v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement
Additional findings_Paediatric v0.0 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive
Additional findings_Paediatric v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease
Additional findings_Paediatric v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Pterygium syndrome
Additional findings_Paediatric v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Additional findings_Paediatric v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type
Additional findings_Paediatric v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome
Additional findings_Paediatric v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD2 were set to Developmental delay, intellectual disability, epilepsy
Additional findings_Paediatric v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome
Additional findings_Paediatric v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis
Additional findings_Paediatric v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked
Additional findings_Paediatric v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy
Additional findings_Paediatric v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFC1 were set to Congenital heart defects
Additional findings_Paediatric v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome
Additional findings_Paediatric v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome
Additional findings_Paediatric v0.0 CDSN Zornitza Stark gene: CDSN was added
gene: CDSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDSN were set to Hypotrichosis
Additional findings_Paediatric v0.0 CDKN1C Zornitza Stark gene: CDKN1C was added
gene: CDKN1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome
Additional findings_Paediatric v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2
Additional findings_Paediatric v0.0 CDH23 Zornitza Stark Added phenotypes Usher syndrome, type 1D for gene: CDH23
Additional findings_Paediatric v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I
Additional findings_Paediatric v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM
Additional findings_Paediatric v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome
Additional findings_Paediatric v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types
Additional findings_Paediatric v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia
Additional findings_Paediatric v0.0 CAV3 Zornitza Stark Added phenotypes Caveolinopathy for gene: CAV3
Additional findings_Paediatric v0.0 CAV3 Zornitza Stark gene: CAV3 was added
gene: CAV3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC,
Additional findings_Paediatric v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic
Additional findings_Paediatric v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Additional findings_Paediatric v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A
Additional findings_Paediatric v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked
Additional findings_Paediatric v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1A were set to Episodic ataxia, type 2
Additional findings_Paediatric v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Additional findings_Paediatric v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset
Additional findings_Paediatric v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1
Additional findings_Paediatric v0.0 BTD Zornitza Stark gene: BTD was added
gene: BTD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BTD were set to Biotinidase deficiency
Additional findings_Paediatric v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness
Additional findings_Paediatric v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip lipodystrophy
Additional findings_Paediatric v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1
Additional findings_Paediatric v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome
Additional findings_Paediatric v0.0 BMPR1A Zornitza Stark gene: BMPR1A was added
gene: BMPR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR1A were set to Juvenile polyposis syndrome
Additional findings_Paediatric v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome
Additional findings_Paediatric v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive
Additional findings_Paediatric v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy
Additional findings_Paediatric v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to Complex 3 deficiency
Additional findings_Paediatric v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease
Additional findings_Paediatric v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease
Additional findings_Paediatric v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BAAT Zornitza Stark gene: BAAT was added
gene: BAAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BAAT were set to Bile acid amidation defect
Additional findings_Paediatric v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-Plus syndrome
Additional findings_Paediatric v0.0 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic
Additional findings_Paediatric v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I
Additional findings_Paediatric v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome
Additional findings_Paediatric v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1
Additional findings_Paediatric v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease
Additional findings_Paediatric v0.0 ATP7A Zornitza Stark Added phenotypes Occipital horn syndrome for gene: ATP7A
Additional findings_Paediatric v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes syndrome
Additional findings_Paediatric v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss
Additional findings_Paediatric v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA
Additional findings_Paediatric v0.0 ATP2A1 Zornitza Stark gene: ATP2A1 was added
gene: ATP2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy
Additional findings_Paediatric v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Hemiplegic migraine
Additional findings_Paediatric v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia
Additional findings_Paediatric v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia
Additional findings_Paediatric v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease
Additional findings_Paediatric v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria
Additional findings_Paediatric v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2
Additional findings_Paediatric v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)
Additional findings_Paediatric v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
Additional findings_Paediatric v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome
Additional findings_Paediatric v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Arginase deficiency
Additional findings_Paediatric v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly
Additional findings_Paediatric v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Androgen insensitivity
Additional findings_Paediatric v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Additional findings_Paediatric v0.0 APOB Zornitza Stark gene: APOB was added
gene: APOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Apolipoprotein B deficiency
Additional findings_Paediatric v0.0 APC Zornitza Stark Added phenotypes Adenomatous polyposis coli, attenuated for gene: APC
Additional findings_Paediatric v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APC were set to Adenomatous polyposis coli
Additional findings_Paediatric v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2
Additional findings_Paediatric v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome
Additional findings_Paediatric v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L
Additional findings_Paediatric v0.0 ANO10 Zornitza Stark gene: ANO10 was added
gene: ANO10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10
Additional findings_Paediatric v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2
Additional findings_Paediatric v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia
Additional findings_Paediatric v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK1 were set to Spherocytosis
Additional findings_Paediatric v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic
Additional findings_Paediatric v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type
Additional findings_Paediatric v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AMELX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AMELX were set to Amelogenesis imperfecta
Additional findings_Paediatric v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALX4 were set to Parietal foramina 2
Additional findings_Paediatric v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis
Additional findings_Paediatric v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia
Additional findings_Paediatric v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Additional findings_Paediatric v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih
Additional findings_Paediatric v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic
Additional findings_Paediatric v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id
Additional findings_Paediatric v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig
Additional findings_Paediatric v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik
Additional findings_Paediatric v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance
Additional findings_Paediatric v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency
Additional findings_Paediatric v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
Additional findings_Paediatric v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA
Additional findings_Paediatric v0.0 ALB Zornitza Stark gene: ALB was added
gene: ALB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALB were set to Analbuminemia
Additional findings_Paediatric v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, X-linked
Additional findings_Paediatric v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2
Additional findings_Paediatric v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Additional findings_Paediatric v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome
Additional findings_Paediatric v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3
Additional findings_Paediatric v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1
Additional findings_Paediatric v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial
Additional findings_Paediatric v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa
Additional findings_Paediatric v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
Additional findings_Paediatric v0.0 ADK Zornitza Stark gene: ADK was added
gene: ADK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency
Additional findings_Paediatric v0.0 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR
Additional findings_Paediatric v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1
Additional findings_Paediatric v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial
Additional findings_Paediatric v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency
Additional findings_Paediatric v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2
Additional findings_Paediatric v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva
Additional findings_Paediatric v0.0 ACTN4 Zornitza Stark gene: ACTN4 was added
gene: ACTN4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1
Additional findings_Paediatric v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia
Additional findings_Paediatric v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG2 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Additional findings_Paediatric v0.0 ACTG1 Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1
Additional findings_Paediatric v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Deafness, autosomal dominant
Additional findings_Paediatric v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome
Additional findings_Paediatric v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA1 were set to Nemaline myopathy
Additional findings_Paediatric v0.0 ACSF3 Zornitza Stark gene: ACSF3 was added
gene: ACSF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria
Additional findings_Paediatric v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency
Additional findings_Paediatric v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria
Additional findings_Paediatric v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency
Additional findings_Paediatric v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Medium chain acyl CoA dehydrogenase deficiency
Additional findings_Paediatric v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to ACAD9 deficiency
Additional findings_Paediatric v0.0 ACAD8 Zornitza Stark gene: ACAD8 was added
gene: ACAD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency
Additional findings_Paediatric v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Additional findings_Paediatric v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy
Additional findings_Paediatric v0.0 ABCC9 Zornitza Stark gene: ABCC9 was added
gene: ABCC9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABCC9 were set to Hypertrichotic osteochondrodysplasia
Additional findings_Paediatric v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial
Additional findings_Paediatric v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum
Additional findings_Paediatric v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3
Additional findings_Paediatric v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2
Additional findings_Paediatric v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Stargardt disease
Additional findings_Paediatric v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3
Additional findings_Paediatric v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive
Additional findings_Paediatric v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease
Additional findings_Paediatric v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome
Additional findings_Paediatric v0.0 Zornitza Stark Added panel Newborn Screening_BabySeq
Early-onset Dementia v0.68 C9orf72 Bryony Thompson Classified gene: C9orf72 as Green List (high evidence)
Early-onset Dementia v0.68 C9orf72 Bryony Thompson Added comment: Comment on list classification: Only reported cause of disease is a hexanucleotide repeat (GGGGCC) located between the noncoding exons 1a and 1b. RNA toxicity or proteotoxicity is the expected mechanism of disease.
Early-onset Dementia v0.68 C9orf72 Bryony Thompson Gene: c9orf72 has been classified as Green List (High Evidence).
Early-onset Dementia v0.67 HDL2 Bryony Thompson Classified STR: HDL2 as Green List (high evidence)
Early-onset Dementia v0.67 HDL2 Bryony Thompson Str: hdl2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.66 HDL2 Bryony Thompson STR: HDL2 was added
STR: HDL2 was added to Early-onset Dementia. Sources: Expert list
STR tags were added to STR: HDL2.
Mode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HDL2 were set to 20301701
Phenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438
Review for STR: HDL2 was set to GREEN
STR: HDL2 was marked as clinically relevant
Added comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]
In an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein
Normal: ≤28 repeats
Questionable significance: 29-39 repeats, mutable normal or reduced penetrance included
Full penetrance: ≥40 repeats
Sources: Expert list
Mendeliome v0.3952 BCLAF1 Zornitza Stark Marked gene: BCLAF1 as ready
Mendeliome v0.3952 BCLAF1 Zornitza Stark Gene: bclaf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3952 BCLAF1 Zornitza Stark Classified gene: BCLAF1 as Red List (low evidence)
Mendeliome v0.3952 BCLAF1 Zornitza Stark Gene: bclaf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3951 BCLAF1 Naomi Baker reviewed gene: BCLAF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Arthrogryposis v0.204 MYO9A Alison Yeung Marked gene: MYO9A as ready
Arthrogryposis v0.204 MYO9A Alison Yeung Gene: myo9a has been classified as Green List (High Evidence).
Arthrogryposis v0.204 MYO9A Alison Yeung Classified gene: MYO9A as Green List (high evidence)
Arthrogryposis v0.204 MYO9A Alison Yeung Gene: myo9a has been classified as Green List (High Evidence).
Arthrogryposis v0.203 MYO9A Alison Yeung gene: MYO9A was added
gene: MYO9A was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9A were set to 26752647; 27259756
Phenotypes for gene: MYO9A were set to MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198
Review for gene: MYO9A was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2881 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Intellectual disability syndromic and non-syndromic v0.2881 ALG12 Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2881 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig, MIM# 607143
Intellectual disability syndromic and non-syndromic v0.2880 ALG12 Zornitza Stark Publications for gene: ALG12 were set to
Intellectual disability syndromic and non-syndromic v0.2879 ALG12 Zornitza Stark Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2878 ALG12 Zornitza Stark reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3951 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Mendeliome v0.3951 ALG12 Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence).
Mendeliome v0.3951 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig, MIM# 607143
Mendeliome v0.3950 SEC61A1 Zornitza Stark Marked gene: SEC61A1 as ready
Mendeliome v0.3950 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Mendeliome v0.3950 SEC61A1 Zornitza Stark Phenotypes for gene: SEC61A1 were changed from to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia
Mendeliome v0.3949 SEC61A1 Zornitza Stark Publications for gene: SEC61A1 were set to
Mendeliome v0.3948 SEC61A1 Zornitza Stark Mode of inheritance for gene: SEC61A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3947 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076, 32325141, 28782633; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Hypogammaglobulinaemia, Neutropaenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v0.25 SEC61A1 Zornitza Stark Marked gene: SEC61A1 as ready
Renal Tubulointerstitial Disease v0.25 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Renal Tubulointerstitial Disease v0.25 SEC61A1 Zornitza Stark Phenotypes for gene: SEC61A1 were changed from to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
Renal Tubulointerstitial Disease v0.24 SEC61A1 Zornitza Stark Publications for gene: SEC61A1 were set to
Renal Tubulointerstitial Disease v0.23 SEC61A1 Zornitza Stark Mode of inheritance for gene: SEC61A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulointerstitial Disease v0.22 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27392076; Phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Mode of inheritance: None
Mendeliome v0.3947 ALG12 Zornitza Stark Publications for gene: ALG12 were set to
Mendeliome v0.3946 ALG12 Zornitza Stark Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3945 ALG12 Zornitza Stark reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31481313; Phenotypes: Congenital disorder of glycosylation, type Ig, MIM# 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.160 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Congenital Disorders of Glycosylation v0.160 ALG12 Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.160 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from to Congenital disorder of glycosylation, type Ig 607143
Congenital Disorders of Glycosylation v0.159 ALG12 Zornitza Stark Publications for gene: ALG12 were set to
Congenital Disorders of Glycosylation v0.158 ALG12 Zornitza Stark Mode of inheritance for gene: ALG12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2878 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Intellectual disability syndromic and non-syndromic v0.2878 ALG11 Zornitza Stark Gene: alg11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2878 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661
Intellectual disability syndromic and non-syndromic v0.2877 ALG11 Zornitza Stark Publications for gene: ALG11 were set to
Renal Macrocystic Disease v0.37 ALG9 Zornitza Stark changed review comment from: Two individuals with mono-allelic variants reported with polycystic kidney disease, and ALG9 LOF variants over-represented in a population-based cohort. However, penetrance and expressivity seem variable, and also it is unclear whether parents of children affected by the AR CDG have renal cysts. Bi-allelic variants cause CDG: kidney cysts reported as part of phenotype but note this is generally a severe multi-system disorder.
Sources: Literature; to: Two individuals with mono-allelic variants reported with polycystic kidney disease, and ALG9 LOF variants over-represented in a population-based cohort. However, penetrance and expressivity seem variable, and also it is unclear whether parents of children affected by the AR CDG have renal cysts. Bi-allelic variants cause CDG: kidney cysts reported as part of phenotype but note this is generally a severe multi-system disorder. It is unclear at present whether the mechanism is the same for both. It may be that bi-allelic LOF is perinatal lethal, hence CDG carriers for missense variants are less likely to manifest renal cysts.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2876 ALG11 Zornitza Stark Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2875 ALG11 Zornitza Stark reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM# 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.804 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Genetic Epilepsy v0.804 ALG11 Zornitza Stark Gene: alg11 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.804 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661
Genetic Epilepsy v0.803 ALG11 Zornitza Stark Publications for gene: ALG11 were set to
Genetic Epilepsy v0.802 ALG11 Zornitza Stark Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.801 ALG11 Zornitza Stark reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM# 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3945 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Mendeliome v0.3945 ALG11 Zornitza Stark Gene: alg11 has been classified as Green List (High Evidence).
Mendeliome v0.3945 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661
Renal Macrocystic Disease v0.37 ALG9 Zornitza Stark edited their review of gene: ALG9: Added comment: Additional individual reported in PMID 30676690 as part of a large cohort.; Changed publications: 31395617, 32398770; Changed phenotypes: Congenital disorder of glycosylation, type Il, MIM# 608776, Gillessen-Kaesbach-Nishimura syndrome, MIM#263210, Polycystic kidney disease
Mendeliome v0.3944 ALG11 Zornitza Stark Publications for gene: ALG11 were set to
Mendeliome v0.3943 ALG11 Zornitza Stark Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3942 ALG11 Zornitza Stark reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 30676690; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM# 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Marked gene: ALG11 as ready
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Gene: alg11 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.157 ALG11 Zornitza Stark Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661
Congenital Disorders of Glycosylation v0.156 ALG11 Zornitza Stark Publications for gene: ALG11 were set to
Congenital Disorders of Glycosylation v0.155 ALG11 Zornitza Stark Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.154 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Congenital Disorders of Glycosylation v0.154 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v0.154 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik 608540
Congenital Disorders of Glycosylation v0.153 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Congenital Disorders of Glycosylation v0.152 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.70 KATNB1 Zornitza Stark Marked gene: KATNB1 as ready
Lissencephaly and Band Heterotopia v0.70 KATNB1 Zornitza Stark Gene: katnb1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.70 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Lissencephaly and Band Heterotopia v0.70 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.137 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Polymicrogyria and Schizencephaly v0.137 L1CAM Zornitza Stark Gene: l1cam has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.137 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from to L1CAM-related disease
Polymicrogyria and Schizencephaly v0.136 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Polymicrogyria and Schizencephaly v0.135 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.134 L1CAM Zornitza Stark Classified gene: L1CAM as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.134 L1CAM Zornitza Stark Gene: l1cam has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.133 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Polymicrogyria and Schizencephaly v0.133 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.133 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Warburg micro syndrome 2 614225
Polymicrogyria and Schizencephaly v0.132 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Polymicrogyria and Schizencephaly v0.131 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.130 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Polymicrogyria and Schizencephaly v0.130 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Gene: pex16 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Classified gene: PEX16 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.130 PEX16 Zornitza Stark Gene: pex16 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Classified gene: PEX14 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.129 PEX14 Zornitza Stark Gene: pex14 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Gene: pex13 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Classified gene: PEX13 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.128 PEX13 Zornitza Stark Gene: pex13 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Gene: pex12 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Classified gene: PEX12 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.127 PEX12 Zornitza Stark Gene: pex12 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.151 ALG14 Sarah Donoghue reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30221345, PMID: 28733338, PMID: 23404334; Phenotypes: Intellectual disability, epilepsy, dysmorphic features, myasthenia, hypotonia, cerebral atrophy, contractures, congenital myasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Gene: pex19 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Classified gene: PEX19 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.126 PEX19 Zornitza Stark Gene: pex19 has been classified as Amber List (Moderate Evidence).
Congenital Disorders of Glycosylation v0.151 ALG12 Sarah Donoghue edited their review of gene: ALG12: Added comment: Usually type I CDG pattern; Changed phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes, Lipid abnormalities, Abnormal transferrin IEF, Abnormal brain imaging, Microcephaly, Skeletal malformations
Congenital Disorders of Glycosylation v0.151 ALG12 Sarah Donoghue reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v0.151 ALG11 Sarah Donoghue reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30676690; Phenotypes: Developmental disability, Epilepsy, Dysmorphic features, Microcephaly, Hypotonia, Hypertonia, Hyperreflexia, Sensorineural deafness, Eye/Visual Problems, Feeding problems; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Disorders of Glycosylation v0.151 ALG1 Sarah Donoghue reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26931382; Phenotypes: Developmental delay, Intellectual disability, Hypotonia, Seizure/Epilepsy, Visual Involvement, Microcephaly, Abnormal Brain Imaging, Facial Dysmorphism, Haematological, Gastrointestinal, Skeletal Abnormalities, Hypoalbuminaemia, Recurrent infections, Liver dysfunction, Cardiac Abnormalities, Renal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.3942 NPRL2 Zornitza Stark Marked gene: NPRL2 as ready
Mendeliome v0.3942 NPRL2 Zornitza Stark Gene: nprl2 has been classified as Green List (High Evidence).
Mendeliome v0.3942 NPRL2 Zornitza Stark Phenotypes for gene: NPRL2 were changed from to Epilepsy, familial focal, with variable foci 2, MIM# 617116; focal seizures; frontal lobe epilepsy; nocturnal frontal lobe epilepsy; temporal lobe epilepsy; focal cortical dysplasia
Mendeliome v0.3941 NPRL2 Zornitza Stark Publications for gene: NPRL2 were set to
Mendeliome v0.3940 NPRL2 Zornitza Stark Mode of inheritance for gene: NPRL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.125 PEX13 Ain Roesley gene: PEX13 was added
gene: PEX13 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 21031596; 19449432
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Penetrance for gene: PEX13 were set to unknown
Review for gene: PEX13 was set to AMBER
Added comment: Accounts for ~1.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature

PMID: 19449432;
- 1x ZSD proband with PMG
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX14 Paul De Fazio gene: PEX14 was added
gene: PEX14 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 21031596; 18285423; 15146459; 30224891
Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Review for gene: PEX14 was set to AMBER
gene: PEX14 was marked as current diagnostic
Added comment: Accounts for ~0.5% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). At least 3 independent patients have been reported with a homozygous nonsense variant, a rare missense variant, and a whole-exon deletion (PMID: 18285423, 15146459, 30224891) so gene-disease association is established.

Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX12 Ain Roesley gene: PEX12 was added
gene: PEX12 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 21031596
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)
Penetrance for gene: PEX12 were set to unknown
Review for gene: PEX12 was set to AMBER
Added comment: Accounts for ~7.6% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Added comment: Comment when marking as ready: Aware of another family tested through our service, but agree gene-disease association limited, and no specific reports of PMG.
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.125 PEX16 Paul De Fazio gene: PEX16 was added
gene: PEX16 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX16 were set to 21031596
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Review for gene: PEX16 was set to AMBER
gene: PEX16 was marked as current diagnostic
Added comment: Accounts for ~1.1% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Classified gene: PEX11B as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.125 PEX11B Zornitza Stark Gene: pex11b has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Gene: pex10 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Classified gene: PEX10 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.124 PEX10 Zornitza Stark Gene: pex10 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Gene: pex2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Classified gene: PEX2 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.123 PEX2 Zornitza Stark Gene: pex2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Gene: pex26 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Classified gene: PEX26 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.122 PEX26 Zornitza Stark Gene: pex26 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.121 PEX19 Paul De Fazio gene: PEX19 was added
gene: PEX19 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX19 were set to 21031596
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Review for gene: PEX19 was set to AMBER
gene: PEX19 was marked as current diagnostic
Added comment: Accounts for ~0.6% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Gene: pex3 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Classified gene: PEX3 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.121 PEX3 Zornitza Stark Gene: pex3 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.120 PEX11B Ain Roesley gene: PEX11B was added
gene: PEX11B was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX11B were set to 22581968
Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B (MIM#614920)
Penetrance for gene: PEX11B were set to unknown
Review for gene: PEX11B was set to RED
Added comment: Accounts for ~0.1% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature

PMID: 22581968;
Sinlge patient reported
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX10 Ain Roesley gene: PEX10 was added
gene: PEX10 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 21031596
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870)
Penetrance for gene: PEX10 were set to unknown
Review for gene: PEX10 was set to AMBER
Added comment: Accounts for ~3.4% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX2 Paul De Fazio gene: PEX2 was added
gene: PEX2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 21031596
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Review for gene: PEX2 was set to AMBER
gene: PEX2 was marked as current diagnostic
Added comment: Accounts for ~3.1% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX26 Paul De Fazio gene: PEX26 was added
gene: PEX26 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX26 were set to 21031596
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Review for gene: PEX26 was set to AMBER
gene: PEX26 was marked as current diagnostic
Added comment: Accounts for ~4.2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX3 Paul De Fazio edited their review of gene: PEX3: Changed rating: AMBER; Changed phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) 614882
Polymicrogyria and Schizencephaly v0.120 PEX3 Paul De Fazio gene: PEX3 was added
gene: PEX3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX3 were set to 21031596
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882
gene: PEX3 was marked as current diagnostic
Added comment: Accounts for ~0.7% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Classified gene: PEX1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.120 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Classified gene: PEX5 as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.119 PEX5 Zornitza Stark Gene: pex5 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.118 PEX1 Ain Roesley gene: PEX1 was added
gene: PEX1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 21031596
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)
Penetrance for gene: PEX1 were set to unknown
Review for gene: PEX1 was set to GREEN
Added comment: Accounts for ~60.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature
Sources: Literature
Polymicrogyria and Schizencephaly v0.118 PEX5 Paul De Fazio gene: PEX5 was added
gene: PEX5 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 21031596
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)
Review for gene: PEX5 was set to AMBER
gene: PEX5 was marked as current diagnostic
Added comment: Accounts for ~2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber.
Sources: Literature
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.23 STRADA Seb Lunke Marked gene: STRADA as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.23 STRADA Seb Lunke Gene: strada has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.23 STRADA Seb Lunke Publications for gene: STRADA were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.22 STRADA Seb Lunke Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.21 STRADA Seb Lunke Classified gene: STRADA as Amber List (moderate evidence)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.21 STRADA Seb Lunke Added comment: Comment on list classification: megalencephaly link well established, but no conclusive evidence of hemi-megalencephaly
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.21 STRADA Seb Lunke Gene: strada has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Marked gene: SHH as ready
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Gene: shh has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Tag disputed tag was added to gene: SHH.
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.20 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.20 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.20 NPRL3 Zornitza Stark Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3 (MIM#617118)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.19 NPRL3 Zornitza Stark Publications for gene: NPRL3 were set to
Polymicrogyria and Schizencephaly v0.118 SHH Zornitza Stark Phenotypes for gene: SHH were changed from to Schizencephaly (MIM#269160)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.18 NPRL3 Zornitza Stark Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.17 STRADA Paul De Fazio edited their review of gene: STRADA: Changed rating: GREEN
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.17 STRADA Paul De Fazio changed review comment from: Associated with PMSE (Polyhydramnios, megalencephaly, and symptomatic epilepsy). Link to TSC seems tenuous and is limited to the authors of PMID: 17522105 citing similarities to TSC in histological findings in an individual with biallelic STRADA deletions, and the fact that this gene is implicated in the mTORC pathway.

This gene is an upstream inhibitor of mTORC1. Treatment with rapamycin reduces seizures in a mouse model (PMID: 23616120).; to: Associated with PMSE (Polyhydramnios, megalencephaly, and symptomatic epilepsy). Link to TSC seems tenuous and is limited to the authors of PMID: 17522105 citing similarities to TSC in histological findings in an individual with biallelic STRADA deletions, and the fact that this gene is implicated in the mTORC pathway. However megalencephaly is a common characteristic in almost all patients (summarised in PMID: 27170158). Reported patients include 7 distantly-related Mennonite children with the same 7kb deletion, plus two other separate unrelated individuals.

This gene is an upstream inhibitor of mTORC1. Treatment with rapamycin reduces seizures in a mouse model (PMID: 23616120).
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Marked gene: PEX6 as ready
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Gene: pex6 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Classified gene: PEX6 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.117 PEX6 Seb Lunke Gene: pex6 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.116 SHH Zornitza Stark Publications for gene: SHH were set to
Polymicrogyria and Schizencephaly v0.115 SHH Zornitza Stark Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.114 SIX3 Seb Lunke Marked gene: SIX3 as ready
Polymicrogyria and Schizencephaly v0.114 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.114 SIX3 Seb Lunke Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polymicrogyria and Schizencephaly v0.113 SIX3 Seb Lunke Publications for gene: SIX3 were set to
Polymicrogyria and Schizencephaly v0.113 SHH Zornitza Stark Classified gene: SHH as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.113 SHH Zornitza Stark Gene: shh has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.112 SHH Zornitza Stark Classified gene: SHH as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.112 SHH Zornitza Stark Gene: shh has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.112 SIX3 Seb Lunke Classified gene: SIX3 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.112 SIX3 Seb Lunke Added comment: Comment on list classification: Missense variants too common in gnomAD. Left with one novel nonsense, insufficient evidence for association with schizencephaly at this stage.
Polymicrogyria and Schizencephaly v0.112 SIX3 Seb Lunke Gene: six3 has been classified as Red List (Low Evidence).
Mendeliome v0.3939 NPRL2 Dean Phelan reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26505888, 27173016, 28199897, 31594065; Phenotypes: focal seizures, frontal lobe epilepsy, nocturnal frontal lobe epilepsy, temporal lobe epilepsy, focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.801 NPRL2 Zornitza Stark Marked gene: NPRL2 as ready
Genetic Epilepsy v0.801 NPRL2 Zornitza Stark Gene: nprl2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.801 NPRL2 Zornitza Stark Phenotypes for gene: NPRL2 were changed from to Epilepsy, familial focal, with variable foci 2 617116; focal seizures; frontal lobe epilepsy; nocturnal frontal lobe epilepsy; temporal lobe epilepsy; focal cortical dysplasia
Genetic Epilepsy v0.800 NPRL2 Zornitza Stark Publications for gene: NPRL2 were set to
Genetic Epilepsy v0.799 NPRL2 Zornitza Stark Mode of inheritance for gene: NPRL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.17 NPRL2 Zornitza Stark Marked gene: NPRL2 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.17 NPRL2 Zornitza Stark Gene: nprl2 has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.17 NPRL2 Zornitza Stark Phenotypes for gene: NPRL2 were changed from to Focal epilepsy; Focal cortical dysplasia
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.16 NPRL2 Zornitza Stark Publications for gene: NPRL2 were set to
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.15 NPRL2 Zornitza Stark Mode of inheritance for gene: NPRL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.14 NPRL2 Zornitza Stark Classified gene: NPRL2 as Amber List (moderate evidence)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.14 NPRL2 Zornitza Stark Gene: nprl2 has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Marked gene: SNAP29 as ready
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Gene: snap29 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Classified gene: SNAP29 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.111 SNAP29 Seb Lunke Gene: snap29 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.70 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Lissencephaly and Band Heterotopia v0.70 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.70 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Marked gene: SRD5A3 as ready
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Gene: srd5a3 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.69 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Lissencephaly and Band Heterotopia v0.68 SNAP29 Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Classified gene: SRD5A3 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.110 SRD5A3 Seb Lunke Gene: srd5a3 has been classified as Red List (Low Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.13 DEPDC5 Zornitza Stark Marked gene: DEPDC5 as ready
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.13 DEPDC5 Zornitza Stark Gene: depdc5 has been classified as Green List (High Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.13 DEPDC5 Zornitza Stark Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1 (MIM#604364)
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.12 DEPDC5 Zornitza Stark Publications for gene: DEPDC5 were set to 31444548
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.12 DEPDC5 Zornitza Stark Publications for gene: DEPDC5 were set to
Lissencephaly and Band Heterotopia v0.67 SRD5A3 Zornitza Stark Marked gene: SRD5A3 as ready
Lissencephaly and Band Heterotopia v0.67 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Red List (Low Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.11 DEPDC5 Zornitza Stark Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.67 SRD5A3 Zornitza Stark Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq (MIM#612379)
Lissencephaly and Band Heterotopia v0.66 SRD5A3 Zornitza Stark Publications for gene: SRD5A3 were set to
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Marked gene: DCHS1 as ready
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Gene: dchs1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Classified gene: DCHS1 as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.65 DCHS1 Seb Lunke Gene: dchs1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.65 SRD5A3 Zornitza Stark Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.64 SRD5A3 Zornitza Stark Classified gene: SRD5A3 as Red List (low evidence)
Lissencephaly and Band Heterotopia v0.64 SRD5A3 Zornitza Stark Gene: srd5a3 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Classified gene: NSDHL as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.63 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.109 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Polymicrogyria and Schizencephaly v0.109 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.109 NSDHL Zornitza Stark Phenotypes for gene: NSDHL were changed from to CK syndrome 300831
Polymicrogyria and Schizencephaly v0.108 NSDHL Zornitza Stark Publications for gene: NSDHL were set to
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Marked gene: DAG1 as ready
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Gene: dag1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.107 NSDHL Zornitza Stark Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Classified gene: DAG1 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.107 DAG1 Seb Lunke Gene: dag1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.106 NSDHL Zornitza Stark Classified gene: NSDHL as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.106 NSDHL Zornitza Stark Gene: nsdhl has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.106 DAG1 Seb Lunke Classified gene: DAG1 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.106 DAG1 Seb Lunke Gene: dag1 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.105 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Polymicrogyria and Schizencephaly v0.105 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.105 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 (MIM#608091) to Joubert syndrome 2 (MIM#608091)
Polymicrogyria and Schizencephaly v0.104 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to 20512146
Polymicrogyria and Schizencephaly v0.103 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.102 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.102 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.101 TMEM216 Zornitza Stark Marked gene: TMEM216 as ready
Polymicrogyria and Schizencephaly v0.101 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.101 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from to Joubert syndrome 2 (MIM#608091)
Polymicrogyria and Schizencephaly v0.100 TMEM216 Zornitza Stark Publications for gene: TMEM216 were set to
Polymicrogyria and Schizencephaly v0.99 TMEM216 Zornitza Stark Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.98 PEX6 Paul De Fazio gene: PEX6 was added
gene: PEX6 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX6 were set to 21031596; 9877282; 26700162
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Review for gene: PEX6 was set to GREEN
gene: PEX6 was marked as current diagnostic
Added comment: Variants in this gene account for 14.5% of Zellweger Spectrum Disorder patients according to GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1448/). Genetic spectrum of 77 patients reviewed in PMID: 19877282.

PMID: 26700162, 22894767, and 28452594 describe three patients with polymicrogyria. Did not look further for others but they possibly exist.
Sources: Literature
Polymicrogyria and Schizencephaly v0.98 TMEM216 Zornitza Stark Classified gene: TMEM216 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.98 TMEM216 Zornitza Stark Gene: tmem216 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Classified gene: OSGEP as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.62 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Marked gene: DAG1 as ready
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Classified gene: DAG1 as Red List (low evidence)
Cobblestone Malformations v0.9 DAG1 Zornitza Stark Gene: dag1 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Classified gene: CSNK2A1 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.61 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 NPRL3 Ain Roesley reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051; Phenotypes: Epilepsy, familial focal, with variable foci 3 (MIM#617118); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polymicrogyria and Schizencephaly v0.97 SHH Paul De Fazio reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: 19533790; Phenotypes: Schizencephaly (MIM#269160); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 NPRL2 Ain Roesley Deleted their review
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 NPRL2 Ain Roesley reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30093711, 27173016; Phenotypes: Epilepsy, familial focal, with variable foci 2 (MIM#617116); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polymicrogyria and Schizencephaly v0.97 SIX3 Paul De Fazio reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20157829; Phenotypes: Schizencephaly (MIM#269160); Mode of inheritance: None; Current diagnostic: yes
Genetic Epilepsy v0.798 NPRL2 Dean Phelan reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26505888, 27173016, 28199897, 31594065; Phenotypes: focal seizures, frontal lobe epilepsy, nocturnal frontal lobe epilepsy, temporal lobe epilepsy, focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 NPRL2 Dean Phelan reviewed gene: NPRL2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29281825, 27173016, 31625153; Phenotypes: Focal epilepsy, Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.97 SNAP29 Paul De Fazio gene: SNAP29 was added
gene: SNAP29 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 29051910; 21073448; 30793783
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Review for gene: SNAP29 was set to GREEN
gene: SNAP29 was marked as current diagnostic
Added comment: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)).
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (4 patients from 2 families with both pachygyria and polymicrogyria, and 5 patients from 3 families with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)).
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from 5 families with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (4 patients from 2 families with both pachygyria and polymicrogyria, and 5 patients from 3 families with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple unrelated patients with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from 5 families with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).
Lissencephaly and Band Heterotopia v0.60 SNAP29 Paul De Fazio reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Polymicrogyria and Schizencephaly v0.97 SRD5A3 Paul De Fazio gene: SRD5A3 was added
gene: SRD5A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 18271001; 20637498; 31638560; 27480077
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq (MIM#612379)
Review for gene: SRD5A3 was set to RED
gene: SRD5A3 was marked as current diagnostic
Added comment: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported in 2 individuals from the same family in PMID: 18271001, but given that it is only this one family I have rated it red.
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 SRD5A3 Paul De Fazio changed review comment from: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.; to: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.

Not sure this gene should be on this panel. Have added to polymicrogyria panel instead.
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 DEPDC5 Ain Roesley reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548; Phenotypes: Epilepsy, familial focal, with variable foci 1 (MIM#604364); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lissencephaly and Band Heterotopia v0.60 SRD5A3 Paul De Fazio reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: None; Publications: 18271001, 20637498, 31638560, 27480077; Phenotypes: Congenital disorder of glycosylation, type Iq (MIM#612379); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lissencephaly and Band Heterotopia v0.60 DCHS1 Ain Roesley gene: DCHS1 was added
gene: DCHS1 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCHS1 were set to 27262615; 22473091
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1 (MIM#601390)
Penetrance for gene: DCHS1 were set to unknown
Review for gene: DCHS1 was set to GREEN
Added comment: PMID: 27262615;
- cohort of 26x periventricular band heterotopias however 2x had additional phenotype of pachygyria
- 2nd cohort of 10x band heterotopias

PMID: 22473091;
- 1x patient with localised areas of cortical thickening and gyral simplification
Sources: Literature
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.10 STRADA Paul De Fazio reviewed gene: STRADA: Rating: RED; Mode of pathogenicity: None; Publications: 28688840, 17522105, 27170158, 23616120; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy (MIM#611087); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lissencephaly and Band Heterotopia v0.60 NSDHL Belinda Chong gene: NSDHL was added
gene: NSDHL was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NSDHL were set to 19377476; 19842190; 21129721
Phenotypes for gene: NSDHL were set to CK syndrome 300831
Review for gene: NSDHL was set to AMBER
gene: NSDHL was marked as current diagnostic
Added comment: First described in 7 males from a five-generation family, 1-bp duplication p.(Lys232del) reported by Tarpey et al. (2009). PMID:19377476.

Second affected family, p.(Arg367SerFs*33) reported by Tarpey et al. (2009) and McLarren et al. (2010) (PMID:19842190; 21129721). Functional studies showed that both mutations in these families result in partial loss of the function of the NSDHL protein and cause a distinct phenotype characterized by intellectual disability, seizures, microcephaly, cerebral cortical malformations, minor facial anomalies, and thin body habitus.

Third described in five- generation family (missense -p.Gly152Asp) with affected males manifesting clinical features of CK syndrome. (https://doi.org/10.1002/ajmg.a.36999). Clinical feature described in the paper similar to CK syndrome however, no mention of cortical malformation, pachygyria, polymicrogyria, features mentioned in OMIM. But one affected male has a CT scan showing atrophic changes in the brain, internal hydrocephalus, and possible subependymal gray matter heterotopia. NB: Therefore, unsure if this is the third family hence leaving as Amber.
Sources: Literature
Polymicrogyria and Schizencephaly v0.97 DAG1 Ain Roesley gene: DAG1 was added
gene: DAG1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 24052401
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Penetrance for gene: DAG1 were set to unknown
Review for gene: DAG1 was set to RED
Added comment: Also known as Walker-Warburg syndrome

PMID: 24052401;
- two Libyan siblings
- MRI showed thin cortical layer resembling diffuse polymicrogyria with frontal agyria
Sources: Literature
Polymicrogyria and Schizencephaly v0.97 NSDHL Belinda Chong reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: None; Publications: 19377476, 19842190, 21129721; Phenotypes: CK syndrome 300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Polymicrogyria and Schizencephaly v0.97 TMEM216 Paul De Fazio reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: 20512146; Phenotypes: Joubert syndrome 2 (MIM#608091); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Lissencephaly and Band Heterotopia v0.60 OSGEP Naomi Baker changed review comment from: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655).
Sources: Literature; to: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655). Another reports describes OSGEP mutations in multiple individuals, with at least three reported as having pachygyria (PMID:28805828).
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 OSGEP Naomi Baker gene: OSGEP was added
gene: OSGEP was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to PMID: 30558655
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM#617729
Penetrance for gene: OSGEP were set to Complete
Review for gene: OSGEP was set to GREEN
Added comment: OSGEP mutations are associated with Galloway–Mowat syndrome, MIM#617729. Six Taiwanese patients, including two siblings, examined by either congenital MRI or cranial CT had pachygyria and hypomyelination (PMID:30558655).
Sources: Literature
Cobblestone Malformations v0.8 DAG1 Ain Roesley gene: DAG1 was added
gene: DAG1 was added to Cobblestone Malformations. Sources: Literature
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 29337005
Phenotypes for gene: DAG1 were set to Walker-Warburg syndrome associated with tectocerebellar dysraphia; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 (MIM#616538)
Penetrance for gene: DAG1 were set to unknown
Review for gene: DAG1 was set to RED
Added comment: PMID: 29337005;
- 1x consanguineous Israeli-Arab kindred with Walker-Warburg syndrome
- The imaging studies demonstrated: cobblestone cortex, hydrocephalus, z-shaped brainstem, and in addition occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia).
- homozygous frameshift
Sources: Literature
Lissencephaly and Band Heterotopia v0.60 CSNK2A1 Ain Roesley gene: CSNK2A1 was added
gene: CSNK2A1 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSNK2A1 were set to 27048600; 29240241
Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome (MIM#617062)
Penetrance for gene: CSNK2A1 were set to unknown
Review for gene: CSNK2A1 was set to AMBER
Added comment: PMID: 27048600;
- 5 unrelated patients
- 1x pachygyria + 1x simplified gyral cortication

PMID: 29240241;
- summary of reports thus far, no additional patients with cortical malformations

* all variants reported are de novo
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2875 PDE2A Zornitza Stark Marked gene: PDE2A as ready
Intellectual disability syndromic and non-syndromic v0.2875 PDE2A Zornitza Stark Gene: pde2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2875 PDE2A Zornitza Stark Classified gene: PDE2A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2875 PDE2A Zornitza Stark Gene: pde2a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.2874 PDE2A Zornitza Stark gene: PDE2A was added
gene: PDE2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE2A were set to 32467598; 32196122; 29392776
Phenotypes for gene: PDE2A were set to Paroxysmal dyskinesia
Review for gene: PDE2A was set to AMBER
Added comment: Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'. Unclear at this time what proportion of affected individuals have ID as part of the phenotype.
Sources: Expert list
Mendeliome v0.3939 PDE2A Zornitza Stark Marked gene: PDE2A as ready
Mendeliome v0.3939 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Mendeliome v0.3939 PDE2A Zornitza Stark Classified gene: PDE2A as Green List (high evidence)
Mendeliome v0.3939 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Mendeliome v0.3938 PDE2A Zornitza Stark gene: PDE2A was added
gene: PDE2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE2A were set to 32467598; 32196122; 29392776
Phenotypes for gene: PDE2A were set to Paroxysmal dyskinesia
Review for gene: PDE2A was set to GREEN
Added comment: Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'.
Sources: Literature
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Marked gene: PDE2A as ready
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Classified gene: PDE2A as Green List (high evidence)
Paroxysmal Dyskinesia v0.39 PDE2A Zornitza Stark Gene: pde2a has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.38 PDE2A Zornitza Stark gene: PDE2A was added
gene: PDE2A was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PDE2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE2A were set to 32467598; 32196122; 29392776
Phenotypes for gene: PDE2A were set to Paroxysmal dyskinesia
Review for gene: PDE2A was set to GREEN
Added comment: Four unrelated families reported with childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy. One of the reports characterises the disorder as 'Rett-like'.
Sources: Literature
Paroxysmal Dyskinesia v0.37 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Early-onset Parkinson disease v0.54 COASY Zornitza Stark Marked gene: COASY as ready
Early-onset Parkinson disease v0.54 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.54 COASY Zornitza Stark Phenotypes for gene: COASY were changed from to Neurodegeneration with brain iron accumulation 6, MIM# 615643
Early-onset Parkinson disease v0.53 COASY Zornitza Stark Publications for gene: COASY were set to
Early-onset Parkinson disease v0.52 COASY Zornitza Stark Mode of inheritance for gene: COASY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.51 COASY Zornitza Stark Classified gene: COASY as Amber List (moderate evidence)
Early-onset Parkinson disease v0.51 COASY Zornitza Stark Gene: coasy has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.50 COASY Zornitza Stark reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: None; Publications: 28489334, 24360804; Phenotypes: Neurodegeneration with brain iron accumulation 6, MIM# 615643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.50 CLN3 Zornitza Stark Marked gene: CLN3 as ready
Early-onset Parkinson disease v0.50 CLN3 Zornitza Stark Gene: cln3 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.50 CLN3 Zornitza Stark Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 MIM#204200
Early-onset Parkinson disease v0.49 CLN3 Zornitza Stark Publications for gene: CLN3 were set to 19489875; 11342698
Early-onset Parkinson disease v0.48 CLN3 Zornitza Stark Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.48 CLN3 Zornitza Stark Publications for gene: CLN3 were set to
Early-onset Dementia v0.65 C9orf72 Zornitza Stark Marked gene: C9orf72 as ready
Early-onset Dementia v0.65 C9orf72 Zornitza Stark Gene: c9orf72 has been classified as Green List (High Evidence).
Early-onset Dementia v0.65 C9orf72 Zornitza Stark Classified gene: C9orf72 as Green List (high evidence)
Early-onset Dementia v0.65 C9orf72 Zornitza Stark Gene: c9orf72 has been classified as Green List (High Evidence).
Early-onset Dementia v0.64 C9orf72 Zornitza Stark gene: C9orf72 was added
gene: C9orf72 was added to Early-onset Dementia. Sources: Expert list
STR tags were added to gene: C9orf72.
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C9orf72 were set to 31779815; 21944778; 21944779
Phenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Review for gene: C9orf72 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Early-onset Parkinson disease v0.47 C9orf72 Zornitza Stark Phenotypes for gene: C9orf72 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Early-onset Parkinson disease v0.46 C9orf72 Zornitza Stark Publications for gene: C9orf72 were set to
Early-onset Parkinson disease v0.45 C9orf72 Zornitza Stark Mode of inheritance for gene: C9orf72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.44 APP Zornitza Stark Marked gene: APP as ready
Early-onset Parkinson disease v0.44 APP Zornitza Stark Gene: app has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.44 APP Zornitza Stark Phenotypes for gene: APP were changed from to Alzheimer disease 1, familial, MIM# 104300
Early-onset Parkinson disease v0.43 APP Zornitza Stark Mode of inheritance for gene: APP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.42 APP Zornitza Stark Classified gene: APP as Amber List (moderate evidence)
Early-onset Parkinson disease v0.42 APP Zornitza Stark Gene: app has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.41 APP Zornitza Stark reviewed gene: APP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzheimer disease 1, familial, MIM# 104300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.93 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Autoinflammatory Disorders v0.93 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.93 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Autoinflammatory Disorders v0.92 OTULIN Zornitza Stark Publications for gene: OTULIN were set to
Autoinflammatory Disorders v0.91 OTULIN Zornitza Stark Mode of inheritance for gene: OTULIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.90 OTULIN Zornitza Stark reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523608, 27559085; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3937 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Mendeliome v0.3937 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Mendeliome v0.3937 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Mendeliome v0.3936 OTULIN Zornitza Stark Publications for gene: OTULIN were set to
Mendeliome v0.3935 OTULIN Zornitza Stark Mode of inheritance for gene: OTULIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3934 OTULIN Zornitza Stark reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523608, 27559085; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Inflammatory bowel disease v0.34 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.33 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Inflammatory bowel disease. Sources: Expert list
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTULIN were set to 27523608; 27559085
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Review for gene: OTULIN was set to GREEN
Added comment: Autoinflammatory disorder where diarrhoea is one of the presenting features in addition to recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.
Sources: Expert list
Inflammatory bowel disease v0.32 NOD2 Zornitza Stark changed review comment from: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease.
Sources: Expert Review; to: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease. 7% of a cohort of 401 patients with Crohn's had NOD2 bi-allelic variants.
Sources: Expert Review
Inflammatory bowel disease v0.32 NOD2 Zornitza Stark edited their review of gene: NOD2: Changed publications: 11385576, 17804789, 32463623; Changed phenotypes: {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321
Inflammatory bowel disease v0.32 FERMT1 Zornitza Stark Marked gene: FERMT1 as ready
Inflammatory bowel disease v0.32 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.32 FERMT1 Zornitza Stark Phenotypes for gene: FERMT1 were changed from to Kindler syndrome, MIM# 173650
Inflammatory bowel disease v0.31 FERMT1 Zornitza Stark Publications for gene: FERMT1 were set to
Inflammatory bowel disease v0.30 FERMT1 Zornitza Stark Mode of inheritance for gene: FERMT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inflammatory bowel disease v0.29 FERMT1 Zornitza Stark Classified gene: FERMT1 as Red List (low evidence)
Inflammatory bowel disease v0.29 FERMT1 Zornitza Stark Gene: fermt1 has been classified as Red List (Low Evidence).
Inflammatory bowel disease v0.28 FERMT1 Zornitza Stark reviewed gene: FERMT1: Rating: RED; Mode of pathogenicity: None; Publications: 19057668, 27537055, 32463623; Phenotypes: Kindler syndrome, MIM# 173650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3934 RRAGC Zornitza Stark Publications for gene: RRAGC were set to
Mendeliome v0.3933 RRAGC Zornitza Stark Marked gene: RRAGC as ready
Mendeliome v0.3933 RRAGC Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence).
Mendeliome v0.3933 RRAGC Zornitza Stark Phenotypes for gene: RRAGC were changed from to Dilated cardiomyopathy; cataract
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Marked gene: RRAGC as ready
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Classified gene: RRAGC as Red List (low evidence)
Cardiomyopathy_Paediatric v0.4 RRAGC Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.3 RRAGC Zornitza Stark reviewed gene: RRAGC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.3932 RRAGC Zornitza Stark Mode of inheritance for gene: RRAGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3931 RRAGC Zornitza Stark Classified gene: RRAGC as Red List (low evidence)
Mendeliome v0.3931 RRAGC Zornitza Stark Gene: rragc has been classified as Red List (Low Evidence).
Mendeliome v0.3930 RRAGC Zornitza Stark reviewed gene: RRAGC: Rating: RED; Mode of pathogenicity: None; Publications: 27234373; Phenotypes: Dilated cardiomyopathy, cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3930 RANBP17 Zornitza Stark Marked gene: RANBP17 as ready
Mendeliome v0.3930 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Mendeliome v0.3930 RANBP17 Zornitza Stark Classified gene: RANBP17 as Red List (low evidence)
Mendeliome v0.3930 RANBP17 Zornitza Stark Gene: ranbp17 has been classified as Red List (Low Evidence).
Mendeliome v0.3929 RANBP17 Zornitza Stark reviewed gene: RANBP17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Motor Neurone Disease v0.50 SBMA Bryony Thompson Classified STR: SBMA as Green List (high evidence)
Motor Neurone Disease v0.50 SBMA Bryony Thompson Str: sbma has been classified as Green List (High Evidence).
Motor Neurone Disease v0.49 SBMA Bryony Thompson STR: SBMA was added
STR: SBMA was added to Motor Neuron Disease. Sources: Expert list
STR tags were added to STR: SBMA.
Mode of inheritance for STR: SBMA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SBMA were set to 20301508; 29325606
Phenotypes for STR: SBMA were set to Spinal and bulbar muscular atrophy of Kennedy MIM#313200
Review for STR: SBMA was set to GREEN
STR: SBMA was marked as clinically relevant
Added comment: NM_000044.4:c.172_174CAG[X]
Toxic gain of function mechanism of disease
Normal: ≤34 repeats
Unknown: 35 repeats, consideration of the affected individual's clinical presentation and reconciliation with repeat sizes in family members
Reduced-penetrance: 36-37 repeats, interpreted within the context of family history, clinical presentation, genotype-phenotype correlations in other family members.
Full-penetrance: ≥38 repeats
Sources: Expert list
Early-onset Parkinson disease v0.41 HD Bryony Thompson Classified STR: HD as Green List (high evidence)
Early-onset Parkinson disease v0.41 HD Bryony Thompson Str: hd has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.40 HD Bryony Thompson STR: HD was added
STR: HD was added to Early-onset Parkinson disease. Sources: Expert list
STR tags were added to STR: HD.
Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HD were set to 20301482; 29325606
Phenotypes for STR: HD were set to Huntington disease MIM#143100
Review for STR: HD was set to GREEN
STR: HD was marked as clinically relevant
Added comment: NM_002111.8:c.52_54CAG[X]
Primary mechanism of disease is gain of function
Normal: ≤26 repeats
Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation
Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms
Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span
Sources: Expert list
Early-onset Parkinson disease v0.39 Bryony Thompson removed STR:HD from the panel
Cardiomyopathy_Paediatric v0.3 RRAGC Elena Savva gene: RRAGC was added
gene: RRAGC was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAGC were set to PMID: 29367541; 27234373
Phenotypes for gene: RRAGC were set to Pediatric Dilated Cardiomyopathy
Mode of pathogenicity for gene: RRAGC was set to Other
Review for gene: RRAGC was set to AMBER
Added comment: PMID: 29367541 - 1 de novo patient (missense) w/ paediatric cardiomyopathy

PMID: 27234373 - same de novo missense as above, functional studies show a GOF mechanism

MIssense variant is absent from the population (gnomAD) and in a highly constrained region (Decipher)
Sources: Literature
Early-onset Parkinson disease v0.38 HD Bryony Thompson Classified STR: HD as Green List (high evidence)
Early-onset Parkinson disease v0.38 HD Bryony Thompson Str: hd has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.37 HD Bryony Thompson STR: HD was added
STR: HD was added to Early-onset Parkinson disease. Sources: Expert list
STR tags were added to STR: HD.
Mode of inheritance for STR: HD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HD were set to 20301482; 29325606
Phenotypes for STR: HD were set to Huntington disease MIM#143100
Review for STR: HD was set to GREEN
STR: HD was marked as clinically relevant
Added comment: NM_002111.8:c.52_54CAG[X]
Primary mechanism of disease is gain of function
Normal: ≤26 repeats
Intermediate: 27-35 repeats, no risk for proband but expansion possible in the next generation
Pathogenic (reduced penetrance): 36-39 repeats, proband at risk for HD but may not develop symptoms
Pathogenic (full penetrance): ≥40 repeats, development of HD with increased certainty assuming a normal life span
Sources: Expert list
Mendeliome v0.3929 MICA Zornitza Stark Marked gene: MICA as ready
Mendeliome v0.3929 MICA Zornitza Stark Gene: mica has been classified as Red List (Low Evidence).
Mendeliome v0.3929 MICA Zornitza Stark Classified gene: MICA as Red List (low evidence)
Mendeliome v0.3929 MICA Zornitza Stark Gene: mica has been classified as Red List (Low Evidence).
Mendeliome v0.3928 MICA Zornitza Stark reviewed gene: MICA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.189 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Hydrops fetalis v0.189 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.189 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from Cystic hygroma; hydrops; hydranencephal; arthrogryposis to Cystic hygroma; hydrops; hydranencephaly; arthrogryposis; Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Hydrops fetalis v0.188 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to PMID: 30712878
Hydrops fetalis v0.187 FLVCR2 Zornitza Stark Classified gene: FLVCR2 as Red List (low evidence)
Hydrops fetalis v0.187 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.186 FLVCR2 Zornitza Stark changed review comment from: Single case reported as part of big prenatal series.; to: Single case reported with cystic hygroma as part of big prenatal series. More typical presentation is with hydrocephalus, fetal akinesia, polyhydramnios.
Hydrops fetalis v0.186 FLVCR2 Zornitza Stark edited their review of gene: FLVCR2: Changed phenotypes: Cystic hygroma, Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Hydrops fetalis v0.186 FLVCR2 Zornitza Stark reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 30712878; Phenotypes: Cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.186 FLVCR2 John Christodoulou gene: FLVCR2 was added
gene: FLVCR2 was added to Hydrops fetalis. Sources: Other
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR2 were set to PMID: 30712878
Phenotypes for gene: FLVCR2 were set to Cystic hygroma; hydrops; hydranencephal; arthrogryposis
Penetrance for gene: FLVCR2 were set to unknown
Review for gene: FLVCR2 was set to RED
Added comment: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study.

DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures.
Sources: Other
Lissencephaly and Band Heterotopia v0.60 APC2 Zornitza Stark edited their review of gene: APC2: Changed rating: GREEN
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark changed review comment from: At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported).; to: At least 5 families reported though some were from the Pennsylvania Mennonite population, and had same founder variant (but at least 4 unique variants reported). Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex.
Intellectual disability syndromic and non-syndromic v0.2873 CRADD Zornitza Stark Marked gene: CRADD as ready
Intellectual disability syndromic and non-syndromic v0.2873 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2873 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Intellectual disability syndromic and non-syndromic v0.2872 CRADD Zornitza Stark Publications for gene: CRADD were set to
Intellectual disability syndromic and non-syndromic v0.2871 CRADD Zornitza Stark Mode of inheritance for gene: CRADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2870 CRADD Zornitza Stark reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3928 CRADD Zornitza Stark Marked gene: CRADD as ready
Mendeliome v0.3928 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Mendeliome v0.3928 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Mendeliome v0.3927 CRADD Zornitza Stark Publications for gene: CRADD were set to
Mendeliome v0.3926 CRADD Zornitza Stark Mode of inheritance for gene: CRADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3925 CRADD Zornitza Stark reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark Marked gene: CRADD as ready
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.60 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Lissencephaly and Band Heterotopia v0.59 CRADD Zornitza Stark Publications for gene: CRADD were set to
Lissencephaly and Band Heterotopia v0.58 CRADD Zornitza Stark Mode of inheritance for gene: CRADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.57 CRADD Zornitza Stark reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3925 TDGF1 Zornitza Stark Marked gene: TDGF1 as ready
Mendeliome v0.3925 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3925 TDGF1 Zornitza Stark Phenotypes for gene: TDGF1 were changed from to Forebrain abnormalities
Mendeliome v0.3924 TDGF1 Zornitza Stark Publications for gene: TDGF1 were set to
Mendeliome v0.3923 TDGF1 Zornitza Stark Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3922 TDGF1 Zornitza Stark Classified gene: TDGF1 as Red List (low evidence)
Mendeliome v0.3922 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Mendeliome v0.3921 TDGF1 Zornitza Stark reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: 12073012; Phenotypes: Forebrain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.43 TDGF1 Zornitza Stark Marked gene: TDGF1 as ready
Holoprosencephaly and septo-optic dysplasia v0.43 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2870 TDGF1 Zornitza Stark Marked gene: TDGF1 as ready
Intellectual disability syndromic and non-syndromic v0.2870 TDGF1 Zornitza Stark Added comment: Comment when marking as ready: Variant reported is present in 46 hets in gnomad.
Intellectual disability syndromic and non-syndromic v0.2870 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2870 TDGF1 Zornitza Stark Tag disputed tag was added to gene: TDGF1.
Holoprosencephaly and septo-optic dysplasia v0.43 TDGF1 Zornitza Stark Phenotypes for gene: TDGF1 were changed from to Forebrain abnormalities
Holoprosencephaly and septo-optic dysplasia v0.42 TDGF1 Zornitza Stark Publications for gene: TDGF1 were set to
Holoprosencephaly and septo-optic dysplasia v0.41 TDGF1 Zornitza Stark Mode of inheritance for gene: TDGF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.40 TDGF1 Zornitza Stark Classified gene: TDGF1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.40 TDGF1 Zornitza Stark Gene: tdgf1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.39 TDGF1 Zornitza Stark Tag disputed tag was added to gene: TDGF1.
Holoprosencephaly and septo-optic dysplasia v0.39 TDGF1 Zornitza Stark reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: 12073012; Phenotypes: Forebrain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.39 STIL Zornitza Stark Marked gene: STIL as ready
Holoprosencephaly and septo-optic dysplasia v0.39 STIL Zornitza Stark Gene: stil has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.39 STIL Zornitza Stark Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703
Holoprosencephaly and septo-optic dysplasia v0.38 STIL Zornitza Stark Publications for gene: STIL were set to
Holoprosencephaly and septo-optic dysplasia v0.37 STIL Zornitza Stark Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.36 STIL Zornitza Stark Classified gene: STIL as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.36 STIL Zornitza Stark Gene: stil has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.35 STIL Zornitza Stark reviewed gene: STIL: Rating: RED; Mode of pathogenicity: None; Publications: 25218063; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.35 HESX1 Zornitza Stark Marked gene: HESX1 as ready
Holoprosencephaly and septo-optic dysplasia v0.35 HESX1 Zornitza Stark Gene: hesx1 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.35 HESX1 Zornitza Stark Phenotypes for gene: HESX1 were changed from to Septooptic dysplasia, MIM# 182230
Holoprosencephaly and septo-optic dysplasia v0.34 HESX1 Zornitza Stark Mode of inheritance for gene: HESX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.33 HESX1 Zornitza Stark reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Septooptic dysplasia, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v0.33 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Holoprosencephaly and septo-optic dysplasia v0.33 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.33 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from to Pallister-Hall syndrome, MIM# 146510
Holoprosencephaly and septo-optic dysplasia v0.32 GLI3 Zornitza Stark Publications for gene: GLI3 were set to
Holoprosencephaly and septo-optic dysplasia v0.31 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.30 GLI3 Zornitza Stark Classified gene: GLI3 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.30 GLI3 Zornitza Stark Gene: gli3 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.29 GLI3 Zornitza Stark reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: None; Publications: 24736735; Phenotypes: Pallister-Hall syndrome, MIM# 146510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.51 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Hydrocephalus_Ventriculomegaly v0.51 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.51 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Hydrocephalus_Ventriculomegaly v0.51 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.50 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert list
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709
Review for gene: DLL1 was set to GREEN
Added comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia.
Sources: Expert list
Callosome v0.194 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Callosome v0.194 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Callosome v0.194 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Callosome v0.194 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Callosome v0.193 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Callosome. Sources: Expert list
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709
Review for gene: DLL1 was set to GREEN
Added comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia.
Sources: Expert list
Holoprosencephaly and septo-optic dysplasia v0.29 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Holoprosencephaly and septo-optic dysplasia v0.29 DLL1 Zornitza Stark Gene: dll1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.29 DLL1 Zornitza Stark Phenotypes for gene: DLL1 were changed from to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709
Holoprosencephaly and septo-optic dysplasia v0.28 DLL1 Zornitza Stark Publications for gene: DLL1 were set to
Holoprosencephaly and septo-optic dysplasia v0.27 DLL1 Zornitza Stark Mode of inheritance for gene: DLL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.26 DLL1 Zornitza Stark Classified gene: DLL1 as Red List (low evidence)
Holoprosencephaly and septo-optic dysplasia v0.26 DLL1 Zornitza Stark Gene: dll1 has been classified as Red List (Low Evidence).
Holoprosencephaly and septo-optic dysplasia v0.25 DLL1 Zornitza Stark reviewed gene: DLL1: Rating: RED; Mode of pathogenicity: None; Publications: 31353024; Phenotypes: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Marked gene: CHD7 as ready
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Classified gene: CHD7 as Green List (high evidence)
Holoprosencephaly and septo-optic dysplasia v0.25 CHD7 Zornitza Stark Gene: chd7 has been classified as Green List (High Evidence).
Holoprosencephaly and septo-optic dysplasia v0.24 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert list
Mode of inheritance for gene: CHD7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHD7 were set to 11562938; 28805615; 20104611; 17001700
Phenotypes for gene: CHD7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Review for gene: CHD7 was set to GREEN
Added comment: Reports of HPE phenotype.
Sources: Expert list
Mendeliome v0.3921 GABRA6 Zornitza Stark Marked gene: GABRA6 as ready
Mendeliome v0.3921 GABRA6 Zornitza Stark Gene: gabra6 has been classified as Red List (Low Evidence).
Mendeliome v0.3921 GABRA6 Zornitza Stark gene: GABRA6 was added
gene: GABRA6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GABRA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA6 were set to 21930603; 29215089; 19429026
Phenotypes for gene: GABRA6 were set to Benign familial inherited epilepsy; Childhood absence epilepsy
Review for gene: GABRA6 was set to RED
Added comment: One report in a cohort of patients with BFIE. Potential susceptibility allele in CAE.
Sources: Literature
Genetic Epilepsy v0.798 GABRA6 Zornitza Stark Classified gene: GABRA6 as Red List (low evidence)
Genetic Epilepsy v0.798 GABRA6 Zornitza Stark Gene: gabra6 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.797 GABRA6 Zornitza Stark Classified gene: GABRA6 as Red List (low evidence)
Genetic Epilepsy v0.797 GABRA6 Zornitza Stark Gene: gabra6 has been classified as Red List (Low Evidence).
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Marked gene: ASPM as ready
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Classified gene: ASPM as Green List (high evidence)
Lissencephaly and Band Heterotopia v0.57 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2870 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Intellectual disability syndromic and non-syndromic v0.2870 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2870 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from to Lissencephaly 8 (MIM#617255)
Intellectual disability syndromic and non-syndromic v0.2869 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Intellectual disability syndromic and non-syndromic v0.2868 TMTC3 Zornitza Stark Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2867 TMTC3 Zornitza Stark reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8 (MIM#617255); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3920 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Mendeliome v0.3920 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Mendeliome v0.3920 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from to Lissencephaly 8 (MIM#617255)
Mendeliome v0.3919 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Mendeliome v0.3918 TMTC3 Zornitza Stark Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3917 TMTC3 Zornitza Stark reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8 (MIM#617255); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Red List (Low Evidence).
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Classified gene: TMTC3 as Red List (low evidence)
Periventricular Grey Matter Heterotopia v0.14 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Red List (Low Evidence).
Cobblestone Malformations v0.8 TMTC3 Zornitza Stark Marked gene: TMTC3 as ready
Cobblestone Malformations v0.8 TMTC3 Zornitza Stark Gene: tmtc3 has been classified as Green List (High Evidence).
Cobblestone Malformations v0.8 TMTC3 Zornitza Stark Phenotypes for gene: TMTC3 were changed from to Lissencephaly 8 (MIM#617255)
Cobblestone Malformations v0.7 TMTC3 Zornitza Stark Publications for gene: TMTC3 were set to
Cobblestone Malformations v0.6 TMTC3 Zornitza Stark Mode of inheritance for gene: TMTC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Marked gene: TUBGCP4 as ready
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.796 GABRA6 Anna Le Fevre gene: GABRA6 was added
gene: GABRA6 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GABRA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRA6 were set to PMID: 21930603; 29215089; 19429026
Phenotypes for gene: GABRA6 were set to BFIE; CAE
Penetrance for gene: GABRA6 were set to unknown
Review for gene: GABRA6 was set to RED
Added comment: One report in a cohort of patients with BFIE
Potential susceptibility allele in CAE
Sources: Literature
Tubulinopathies v0.13 TUBGCP4 Zornitza Stark Phenotypes for gene: TUBGCP4 were changed from to Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335)
Tubulinopathies v0.12 TUBGCP4 Zornitza Stark Publications for gene: TUBGCP4 were set to
Tubulinopathies v0.11 TUBGCP4 Zornitza Stark Mode of inheritance for gene: TUBGCP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tubulinopathies v0.10 TUBGCP4 Zornitza Stark Classified gene: TUBGCP4 as Red List (low evidence)
Tubulinopathies v0.10 TUBGCP4 Zornitza Stark Gene: tubgcp4 has been classified as Red List (Low Evidence).
Microcephaly v0.151 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Microcephaly v0.151 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Microcephaly v0.151 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Microcephaly v0.150 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Microcephaly v0.149 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Microcephaly v0.148 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3917 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Mendeliome v0.3917 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Mendeliome v0.3917 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Mendeliome v0.3916 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Mendeliome v0.3915 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3914 ARFGEF2 Zornitza Stark reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.13 ARFGEF2 Zornitza Stark Marked gene: ARFGEF2 as ready
Periventricular Grey Matter Heterotopia v0.13 ARFGEF2 Zornitza Stark Gene: arfgef2 has been classified as Green List (High Evidence).
Periventricular Grey Matter Heterotopia v0.13 ARFGEF2 Zornitza Stark Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)
Periventricular Grey Matter Heterotopia v0.12 ARFGEF2 Zornitza Stark Publications for gene: ARFGEF2 were set to
Periventricular Grey Matter Heterotopia v0.11 ARFGEF2 Zornitza Stark Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.97 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Polymicrogyria and Schizencephaly v0.97 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.97 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Polymicrogyria and Schizencephaly v0.96 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Polymicrogyria and Schizencephaly v0.95 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.61 TBX1 Zornitza Stark Marked gene: TBX1 as ready
Congenital Heart Defect v0.61 TBX1 Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.61 TBX1 Zornitza Stark Phenotypes for gene: TBX1 were changed from to DiGeorge syndrome (MIM#188400)
Congenital Heart Defect v0.60 TBX1 Zornitza Stark Mode of pathogenicity for gene: TBX1 was changed from None to None
Congenital Heart Defect v0.59 TBX1 Zornitza Stark Publications for gene: TBX1 were set to
Congenital Heart Defect v0.58 TBX1 Zornitza Stark Mode of pathogenicity for gene: TBX1 was changed from to None
Congenital Heart Defect v0.57 TBX1 Zornitza Stark Mode of inheritance for gene: TBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Marked gene: SMO as ready
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Gene: smo has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Classified gene: SMO as Amber List (moderate evidence)
Polymicrogyria and Schizencephaly v0.94 SMO Zornitza Stark Gene: smo has been classified as Amber List (Moderate Evidence).
Polymicrogyria and Schizencephaly v0.93 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Lissencephaly and Band Heterotopia v0.56 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Lissencephaly and Band Heterotopia v0.56 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.56 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2 (MIM#614583)
Lissencephaly and Band Heterotopia v0.55 ACTG1 Zornitza Stark Publications for gene: ACTG1 were set to
Lissencephaly and Band Heterotopia v0.54 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Gene: tmx2 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Classified gene: TMX2 as Amber List (moderate evidence)
Lissencephaly and Band Heterotopia v0.53 TMX2 Zornitza Stark Gene: tmx2 has been classified as Amber List (Moderate Evidence).
Lissencephaly and Band Heterotopia v0.52 ASPM Ain Roesley gene: ASPM was added
gene: ASPM was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPM were set to 18452193; 19332161; 19770472; 27250695
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive (MIM#608716)
Penetrance for gene: ASPM were set to unknown
Review for gene: ASPM was set to GREEN
Added comment: PMID: 18452193;
Consanguineous family with 2 affecteds with simplified pattern of gyration
- homozygous for a PTV

PMID: 19332161;
- consanguineous Algerian family in which 3/5 affecteds presented with simplified cortical gyration
- cHet for 2 PTVs

PMID: 19770472;
- 11 families with 16 affecteds
- 9/12 affecteds have simplified frontal and/or occipital gyral pattern
- All PTVs reported

PMID: 27250695;
- 15 families with 21 affecteds
- 4 had coarse gyri and 8 had simplified gyral pattern
- all PTVs
Sources: Literature
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Classified gene: TMX2 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.93 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.52 ACTB Zornitza Stark Marked gene: ACTB as ready
Lissencephaly and Band Heterotopia v0.52 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.52 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1 (MIM#243310)
Lissencephaly and Band Heterotopia v0.51 ACTB Zornitza Stark Publications for gene: ACTB were set to
Lissencephaly and Band Heterotopia v0.50 ACTB Zornitza Stark Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lissencephaly and Band Heterotopia v0.49 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Lissencephaly and Band Heterotopia v0.49 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.49 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)
Lissencephaly and Band Heterotopia v0.48 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Lissencephaly and Band Heterotopia v0.47 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Periventricular Grey Matter Heterotopia v0.10 TMTC3 Paul De Fazio changed review comment from: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428).

However in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.

Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence').
Sources: Literature; to: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428).

However in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular heterotopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.

Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence').
Sources: Literature
Periventricular Grey Matter Heterotopia v0.10 TMTC3 Paul De Fazio gene: TMTC3 was added
gene: TMTC3 was added to Periventricular Grey Matter Heterotopia. Sources: Literature
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMTC3 were set to 27773428; 28973161
Phenotypes for gene: TMTC3 were set to Lissencephaly 8 (MIM#617255)
Review for gene: TMTC3 was set to RED
gene: TMTC3 was marked as current diagnostic
Added comment: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428).

However in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.

Although I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence').
Sources: Literature
Cobblestone Malformations v0.5 TMTC3 Paul De Fazio changed review comment from: Associated with cobblestone lissencephaly in 6 unrelated families with biallelic variants (PMID: 27773428). Most affected individuals also showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly.

In 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.; to: Associated with cobblestone lissencephaly in 6 unrelated families with biallelic variants (PMID: 27773428). Most affected individuals also showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly. One individual had polymicrogyria.

In 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.
Cobblestone Malformations v0.5 TMTC3 Paul De Fazio reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8 (MIM#617255); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v0.41 ABL1 Bryony Thompson Marked gene: ABL1 as ready
Skeletal dysplasia v0.41 ABL1 Bryony Thompson Gene: abl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.41 ABL1 Bryony Thompson Publications for gene: ABL1 were set to 28288113
Skeletal dysplasia v0.40 ABL1 Bryony Thompson Classified gene: ABL1 as Green List (high evidence)
Skeletal dysplasia v0.40 ABL1 Bryony Thompson Gene: abl1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.39 ABL1 Bryony Thompson reviewed gene: ABL1: 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: 28288113, 30855488, 32643838; Phenotypes: Congenital heart defects and skeletal malformations syndrome MIM#617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulinopathies v0.9 TUBGCP4 Paul De Fazio reviewed gene: TUBGCP4: Rating: RED; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Periventricular Grey Matter Heterotopia v0.10 ARFGEF2 Ain Roesley reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.92 AKT3 Ain Roesley changed review comment from: PMID: 28969385;
- 15/20 patients with constitutional mutation in AKT3 presented with polymicrogyria; to: PMID: 28969385;
- 15/20 patients with constitutional mutation in AKT3 presented with polymicrogyria
- de novo and missense
Polymicrogyria and Schizencephaly v0.92 AKT3 Ain Roesley reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Congenital Heart Defect v0.56 TBX1 Crystle Lee edited their review of gene: TBX1: Changed rating: GREEN
Congenital Heart Defect v0.56 TBX1 Crystle Lee reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 31428446, 32110744, 29250159, 30137364, 24998776, 28272434; Phenotypes: DiGeorge syndrome (MIM#188400); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polymicrogyria and Schizencephaly v0.92 SMO Paul De Fazio gene: SMO was added
gene: SMO was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: SMO was set to Unknown
Publications for gene: SMO were set to 27236920; 24859340
Phenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic MIM#601707
Mode of pathogenicity for gene: SMO was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: SMO was set to AMBER
gene: SMO was marked as current diagnostic
Added comment: PMID 27236920 summarises the clinical and molecular findings in 8 unrelated individuals (including individuals reported previously). All 8 had the same somatic mosaic missense variant c.1234C>T p.(Leu412Phe) (absent from gnomAD). 2 had polymicrogyria. Other brain abnormalities reported include agenesis of the corpus callosum, hemimegalencephaly, ventriculomegaly. 1 individual was reported to have a normal brain.

In mouse embryonic fibroblasts, this variant results in constitutive activation (PMID: 24859340).

Other, biallelic germline variants in this gene are associated with Pallister-Hall-like syndrome (MIM#241800) but the MRI findings in individuals with this syndrome don't appear to be applicable to this panel.
Sources: Literature
Lissencephaly and Band Heterotopia v0.46 ACTG1 Ain Roesley reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29671837, 27240540, 25052316; Phenotypes: Baraitser-Winter syndrome 2 (MIM#614583); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lissencephaly and Band Heterotopia v0.46 TMX2 Paul De Fazio gene: TMX2 was added
gene: TMX2 was added to Lissencephaly and Band Heterotopia. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Review for gene: TMX2 was set to AMBER
gene: TMX2 was marked as current diagnostic
Added comment: Summary: 14 families reported with biallelic variants and neurodevelopmental disorder, but individuals from 5 families had pachygyria/lissencephaly, and 4 of those families shared the same variant.

PMID 31735293: 2 unrelated individuals (out of 14 total from 10 families) with biallelic variants had pachygyria on MRI. Other individuals had brain atrophy or polymicrogyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly. This variant was also identified in one individual from PMID 31735293, who had polymicrogyria.
Sources: Literature
Polymicrogyria and Schizencephaly v0.92 TMX2 Paul De Fazio changed review comment from: PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria.
Sources: Literature; to: Summary: 14 families reported with biallelic variants and neurodevelopmental disorder, but individuals from 5 families had polymicrogyria.

PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria.
Sources: Literature
Polymicrogyria and Schizencephaly v0.92 TMX2 Paul De Fazio gene: TMX2 was added
gene: TMX2 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293; 31586943
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Review for gene: TMX2 was set to AMBER
gene: TMX2 was marked as current diagnostic
Added comment: PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.

PMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria.
Sources: Literature
Lissencephaly and Band Heterotopia v0.46 ACTB Ain Roesley reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29671837, 22366783; Phenotypes: Baraitser-Winter syndrome 1 (MIM#243310); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lissencephaly and Band Heterotopia v0.46 VLDLR Paul De Fazio reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18364738, 18326629, 22700954, 22973972; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Malformations of cortical development_Superpanel v0.110 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Neurotransmitter Defects v0.83 QDPR Zornitza Stark Marked gene: QDPR as ready
Neurotransmitter Defects v0.83 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.83 QDPR Zornitza Stark Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630
Neurotransmitter Defects v0.82 QDPR Zornitza Stark Publications for gene: QDPR were set to
Neurotransmitter Defects v0.81 QDPR Zornitza Stark Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.80 QDPR Zornitza Stark reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.80 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Neurotransmitter Defects v0.80 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.80 TH Zornitza Stark Marked gene: TH as ready
Neurotransmitter Defects v0.80 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.80 TH Zornitza Stark Phenotypes for gene: TH were changed from to Segawa syndrome, recessive , MIM#605407
Neurotransmitter Defects v0.79 TH Zornitza Stark Publications for gene: TH were set to
Neurotransmitter Defects v0.78 TH Zornitza Stark Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.77 TH Zornitza Stark reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 17696123, 11246459, 10585338; Phenotypes: Segawa syndrome, recessive , MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.77 SPR Zornitza Stark Marked gene: SPR as ready
Neurotransmitter Defects v0.77 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.77 SPR Zornitza Stark Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Neurotransmitter Defects v0.76 SPR Zornitza Stark Publications for gene: SPR were set to
Neurotransmitter Defects v0.75 SPR Zornitza Stark Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.74 SPR Zornitza Stark reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.74 SLC6A5 Zornitza Stark Marked gene: SLC6A5 as ready
Neurotransmitter Defects v0.74 SLC6A5 Zornitza Stark Gene: slc6a5 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.74 SLC6A5 Zornitza Stark Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618
Neurotransmitter Defects v0.73 SLC6A5 Zornitza Stark Publications for gene: SLC6A5 were set to
Neurotransmitter Defects v0.72 SLC6A5 Zornitza Stark Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.71 SLC6A5 Zornitza Stark reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3914 SLC6A3 Zornitza Stark Marked gene: SLC6A3 as ready
Mendeliome v0.3914 SLC6A3 Zornitza Stark Gene: slc6a3 has been classified as Green List (High Evidence).
Mendeliome v0.3914 SLC6A3 Zornitza Stark Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135
Mendeliome v0.3913 SLC6A3 Zornitza Stark Publications for gene: SLC6A3 were set to
Mendeliome v0.3912 SLC6A3 Zornitza Stark Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.36 SLC6A3 Zornitza Stark Marked gene: SLC6A3 as ready
Early-onset Parkinson disease v0.36 SLC6A3 Zornitza Stark Gene: slc6a3 has been classified as Green List (High Evidence).
Mendeliome v0.3911 SLC6A3 Zornitza Stark reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.36 SLC6A3 Zornitza Stark Phenotypes for gene: SLC6A3 were changed from Parkinsonism-dystonia, infantile, 1, MIM# 613135 to Parkinsonism-dystonia, infantile, 1, MIM# 613135
Early-onset Parkinson disease v0.36 SLC6A3 Zornitza Stark Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135
Early-onset Parkinson disease v0.35 SLC6A3 Zornitza Stark Publications for gene: SLC6A3 were set to
Early-onset Parkinson disease v0.34 SLC6A3 Zornitza Stark Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.33 SLC6A3 Zornitza Stark reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.71 SLC6A3 Zornitza Stark Marked gene: SLC6A3 as ready
Neurotransmitter Defects v0.71 SLC6A3 Zornitza Stark Gene: slc6a3 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.71 SLC6A3 Zornitza Stark Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135
Neurotransmitter Defects v0.70 SLC6A3 Zornitza Stark Publications for gene: SLC6A3 were set to
Neurotransmitter Defects v0.69 SLC6A3 Zornitza Stark Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.68 SLC6A3 Zornitza Stark reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.68 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Neurotransmitter Defects v0.68 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.68 SLC25A22 Zornitza Stark Phenotypes for gene: SLC25A22 were changed from to Epileptic encephalopathy, early infantile, 3, MIM# 609304
Neurotransmitter Defects v0.67 SLC25A22 Zornitza Stark Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.66 SLC25A22 Zornitza Stark Classified gene: SLC25A22 as Red List (low evidence)
Neurotransmitter Defects v0.66 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.65 SLC25A22 Zornitza Stark reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.65 PTS Zornitza Stark Marked gene: PTS as ready
Neurotransmitter Defects v0.65 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.65 PTS Zornitza Stark Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640
Neurotransmitter Defects v0.64 PTS Zornitza Stark Publications for gene: PTS were set to
Neurotransmitter Defects v0.63 PTS Zornitza Stark Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.62 PTS Zornitza Stark reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9222755; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.62 PNPO Zornitza Stark Marked gene: PNPO as ready
Neurotransmitter Defects v0.62 PNPO Zornitza Stark Gene: pnpo has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.62 PNPO Zornitza Stark Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Neurotransmitter Defects v0.61 PNPO Zornitza Stark Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.60 PNPO Zornitza Stark reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.60 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Neurotransmitter Defects v0.60 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Amber List (Moderate Evidence).
Neurotransmitter Defects v0.60 PCBD1 Zornitza Stark Phenotypes for gene: PCBD1 were changed from to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Neurotransmitter Defects v0.59 PCBD1 Zornitza Stark Publications for gene: PCBD1 were set to
Neurotransmitter Defects v0.58 PCBD1 Zornitza Stark Mode of inheritance for gene: PCBD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.57 PCBD1 Zornitza Stark Classified gene: PCBD1 as Amber List (moderate evidence)
Neurotransmitter Defects v0.57 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Amber List (Moderate Evidence).
Neurotransmitter Defects v0.56 PCBD1 Zornitza Stark reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 9585615; Phenotypes: Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2867 MAOA Zornitza Stark Marked gene: MAOA as ready
Intellectual disability syndromic and non-syndromic v0.2867 MAOA Zornitza Stark Gene: maoa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2867 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from to Brunner syndrome, MIM# 300615
Intellectual disability syndromic and non-syndromic v0.2866 MAOA Zornitza Stark Publications for gene: MAOA were set to
Intellectual disability syndromic and non-syndromic v0.2865 MAOA Zornitza Stark Mode of inheritance for gene: MAOA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.2864 MAOA Zornitza Stark reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3911 MAOA Zornitza Stark Marked gene: MAOA as ready
Mendeliome v0.3911 MAOA Zornitza Stark Gene: maoa has been classified as Green List (High Evidence).
Mendeliome v0.3911 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from to Brunner syndrome, MIM# 300615
Mendeliome v0.3910 MAOA Zornitza Stark Publications for gene: MAOA were set to
Mendeliome v0.3909 MAOA Zornitza Stark Mode of inheritance for gene: MAOA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3908 MAOA Zornitza Stark reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.56 MAOA Zornitza Stark Marked gene: MAOA as ready
Neurotransmitter Defects v0.56 MAOA Zornitza Stark Gene: maoa has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.56 MAOA Zornitza Stark Phenotypes for gene: MAOA were changed from to Brunner syndrome, MIM# 300615
Neurotransmitter Defects v0.55 MAOA Zornitza Stark Publications for gene: MAOA were set to
Neurotransmitter Defects v0.54 MAOA Zornitza Stark Mode of inheritance for gene: MAOA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.53 MAOA Zornitza Stark reviewed gene: MAOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25807999, 24169519; Phenotypes: Brunner syndrome, MIM# 300615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.53 GPHN Zornitza Stark changed review comment from: Well established gene-disease association, but indirect link to neurotransmitter defects: gephryn interacts with glycine and GABA receptors.; to: Indirect link to neurotransmitter defects: gephryn interacts with glycine and GABA receptors.
Neurotransmitter Defects v0.53 GPHN Zornitza Stark Marked gene: GPHN as ready
Neurotransmitter Defects v0.53 GPHN Zornitza Stark Gene: gphn has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.796 GPHN Zornitza Stark Marked gene: GPHN as ready
Genetic Epilepsy v0.796 GPHN Zornitza Stark Gene: gphn has been classified as Green List (High Evidence).
Genetic Epilepsy v0.796 GPHN Zornitza Stark Tag SV/CNV tag was added to gene: GPHN.
Genetic Epilepsy v0.796 GPHN Zornitza Stark Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM# 615501; Epilepsy; Autism; Intellectual disability
Genetic Epilepsy v0.795 GPHN Zornitza Stark Publications for gene: GPHN were set to
Genetic Epilepsy v0.794 GPHN Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.793 GPHN Zornitza Stark reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22040219, 11095995, 26613940, 24561070, 23393157; Phenotypes: Molybdenum cofactor deficiency C, MIM# 615501, Epilepsy, Autism, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3908 GPHN Zornitza Stark Tag SV/CNV tag was added to gene: GPHN.
Mendeliome v0.3908 GPHN Zornitza Stark Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM# 615501; Epilepsy; Autism; Intellectual disability
Mendeliome v0.3907 GPHN Zornitza Stark Publications for gene: GPHN were set to
Mendeliome v0.3906 GPHN Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3905 GPHN Zornitza Stark reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22040219, 11095995, 26613940, 24561070, 23393157; Phenotypes: Molybdenum cofactor deficiency C, MIM# 615501, Epilepsy, Autism, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.53 GPHN Zornitza Stark Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM# 615501
Neurotransmitter Defects v0.52 GPHN Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.51 GPHN Zornitza Stark Classified gene: GPHN as Red List (low evidence)
Neurotransmitter Defects v0.51 GPHN Zornitza Stark Gene: gphn has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.50 GPHN Zornitza Stark reviewed gene: GPHN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM# 615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Marked gene: GLRB as ready
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.36 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Paroxysmal Dyskinesia v0.35 GLRB Zornitza Stark Publications for gene: GLRB were set to
Paroxysmal Dyskinesia v0.34 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.33 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858, 27843043; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3905 GLRB Zornitza Stark Marked gene: GLRB as ready
Mendeliome v0.3905 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Mendeliome v0.3905 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Mendeliome v0.3904 GLRB Zornitza Stark Publications for gene: GLRB were set to
Mendeliome v0.3903 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3902 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858, 27843043; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.27 GLRB Zornitza Stark Marked gene: GLRB as ready
Brain Channelopathies v0.27 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Brain Channelopathies v0.27 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Brain Channelopathies v0.26 GLRB Zornitza Stark Publications for gene: GLRB were set to
Neurotransmitter Defects v0.50 GLRB Zornitza Stark Publications for gene: GLRB were set to 21391991; 11929858
Neurotransmitter Defects v0.49 GLRB Zornitza Stark edited their review of gene: GLRB: Changed publications: 21391991, 11929858, 27843043
Brain Channelopathies v0.25 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Brain Channelopathies v0.24 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858, 27843043; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Marked gene: GLRB as ready
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Gene: glrb has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.49 GLRB Zornitza Stark Phenotypes for gene: GLRB were changed from to Hyperekplexia 2, MIM# 614619
Neurotransmitter Defects v0.48 GLRB Zornitza Stark Publications for gene: GLRB were set to
Neurotransmitter Defects v0.47 GLRB Zornitza Stark Mode of inheritance for gene: GLRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.46 GLRB Zornitza Stark reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21391991, 11929858; Phenotypes: Hyperekplexia 2, MIM# 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.33 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Paroxysmal Dyskinesia v0.32 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Paroxysmal Dyskinesia v0.31 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal Dyskinesia v0.30 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3902 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3901 GLRA1 Zornitza Stark edited their review of gene: GLRA1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3901 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Mendeliome v0.3901 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Mendeliome v0.3901 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Mendeliome v0.3900 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Mendeliome v0.3899 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3898 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.24 GLRA1 Zornitza Stark Marked gene: GLRA1 as ready
Brain Channelopathies v0.24 GLRA1 Zornitza Stark Gene: glra1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.24 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Brain Channelopathies v0.23 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Brain Channelopathies v0.22 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.46 GLRA1 Zornitza Stark Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400
Brain Channelopathies v0.21 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.45 GLRA1 Zornitza Stark Publications for gene: GLRA1 were set to
Neurotransmitter Defects v0.44 GLRA1 Zornitza Stark Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.43 GLRA1 Zornitza Stark reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8298642, 16832093; Phenotypes: Hyperekplexia 1, MIM# 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.43 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Neurotransmitter Defects v0.42 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.41 GCH1 Zornitza Stark reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2864 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Intellectual disability syndromic and non-syndromic v0.2864 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2864 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Intellectual disability syndromic and non-syndromic v0.2863 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Intellectual disability syndromic and non-syndromic v0.2862 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2861 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.793 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Genetic Epilepsy v0.793 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.793 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Genetic Epilepsy v0.792 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Genetic Epilepsy v0.791 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.790 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3898 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Mendeliome v0.3898 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Mendeliome v0.3898 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Mendeliome v0.3897 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Mendeliome v0.3896 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3895 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.41 GABRG2 Zornitza Stark Phenotypes for gene: GABRG2 were changed from to Epileptic encephalopathy, early infantile, 74 618396; Epilepsy, generalized, with febrile seizures plus, type 3 607681
Neurotransmitter Defects v0.40 GABRG2 Zornitza Stark Publications for gene: GABRG2 were set to
Neurotransmitter Defects v0.39 GABRG2 Zornitza Stark Mode of inheritance for gene: GABRG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.38 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326274, 11326275, 27864268; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2861 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Intellectual disability syndromic and non-syndromic v0.2861 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2861 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Intellectual disability syndromic and non-syndromic v0.2860 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Intellectual disability syndromic and non-syndromic v0.2859 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2858 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.790 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Genetic Epilepsy v0.790 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.790 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Genetic Epilepsy v0.789 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Genetic Epilepsy v0.788 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.787 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3895 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Mendeliome v0.3895 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Mendeliome v0.3895 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Mendeliome v0.3894 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Mendeliome v0.3893 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3892 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark changed review comment from: GABA receptor. Multiple unrelated families reported.; to: GABA receptor. Multiple unrelated families reported. Onset of multiple seizures types within the first year of life, and variable intellectual disability.
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.38 GABRB3 Zornitza Stark Phenotypes for gene: GABRB3 were changed from to Epileptic encephalopathy, early infantile, 43, MIM# 617113
Neurotransmitter Defects v0.37 GABRB3 Zornitza Stark Publications for gene: GABRB3 were set to
Neurotransmitter Defects v0.36 GABRB3 Zornitza Stark Mode of inheritance for gene: GABRB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.35 GABRB3 Zornitza Stark reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23934111, 27476654; Phenotypes: Epileptic encephalopathy, early infantile, 43, MIM# 617113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Marked gene: GABRA1 as ready
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Gene: gabra1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.35 GABRA1 Zornitza Stark Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19, MIM# 615744
Neurotransmitter Defects v0.34 GABRA1 Zornitza Stark Publications for gene: GABRA1 were set to
Neurotransmitter Defects v0.33 GABRA1 Zornitza Stark Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.32 GABRA1 Zornitza Stark reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24623842; Phenotypes: Epileptic encephalopathy, early infantile, 19, MIM# 615744; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.136 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Regression v0.136 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Regression v0.136 FOLR1 Zornitza Stark Classified gene: FOLR1 as Green List (high evidence)
Regression v0.136 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Regression v0.135 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Regression. Sources: Expert list
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2858 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Intellectual disability syndromic and non-syndromic v0.2857 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Intellectual disability syndromic and non-syndromic v0.2856 FOLR1 Zornitza Stark Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2855 FOLR1 Zornitza Stark 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
Genetic Epilepsy v0.787 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Genetic Epilepsy v0.787 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.787 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Genetic Epilepsy v0.786 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Genetic Epilepsy v0.785 FOLR1 Zornitza Stark Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.784 FOLR1 Zornitza Stark 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
Mendeliome v0.3892 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Mendeliome v0.3892 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Mendeliome v0.3892 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Mendeliome v0.3891 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Mendeliome v0.3890 FOLR1 Zornitza Stark Mode of inheritance for gene: FOLR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3889 FOLR1 Zornitza Stark 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
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Classified gene: FOLR1 as Green List (high evidence)
Neurotransmitter Defects v0.32 FOLR1 Zornitza Stark Gene: folr1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.31 FOLR1 Zornitza Stark changed review comment from: Folate is a neurotransmitter precursor. Treatable condition.
Sources: Expert list; to: Folate is a neurotransmitter precursor. Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.
Sources: Expert list
Neurotransmitter Defects v0.31 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 19732866; 30420205; 27743887
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Review for gene: FOLR1 was set to GREEN
Added comment: Folate is a neurotransmitter precursor. Treatable condition.
Sources: Expert list
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Neurotransmitter Defects v0.30 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.29 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689; 30139987; 28892570
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384
Review for gene: DNAJC12 was set to GREEN
Added comment: Over 10 families reported with non-BH4-deficient hyperphenylalaninemia (HPANBH4), an autosomal recessive disorder characterised by increased serum phenylalanine (HPA) usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities, such as dystonia, and variably impaired intellectual development. Laboratory analysis shows dopamine and serotonin deficiencies in the CSF, and normal tetrahydrobiopterin (BH4) metabolism. Treatment with BH4 and neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy. Can present with juvenile- or adult-onset dopa-responsive nonprogressive parkinsonism.
Sources: Expert list
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Marked gene: DHFR as ready
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Classified gene: DHFR as Green List (high evidence)
Neurotransmitter Defects v0.28 DHFR Zornitza Stark Gene: dhfr has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.27 DHFR Zornitza Stark gene: DHFR was added
gene: DHFR was added to Neurotransmitter Defects. Sources: Expert list
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310276; 21310277
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839
Review for gene: DHFR was set to GREEN
Added comment: Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the haematologic findings of megaloblastic anaemia and variable neurologic symptoms, ranging from severe developmental delay and generalised seizures in infancy to childhood absence epilepsy with learning difficulties to lack of symptoms. CSF shows markedly decreased 5-methyltetrahydrofolate (5-MTHF) and low tetrahydrobiopterin (BH4), the latter a cofactor required for the synthesis of dopamine and serotonin.
Sources: Expert list
Neurotransmitter Defects v0.26 DDC Zornitza Stark Marked gene: DDC as ready
Neurotransmitter Defects v0.26 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.26 DDC Zornitza Stark Phenotypes for gene: DDC were changed from to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Neurotransmitter Defects v0.25 DDC Zornitza Stark Publications for gene: DDC were set to
Neurotransmitter Defects v0.24 DDC Zornitza Stark Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.23 DDC Zornitza Stark reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3889 DBH Zornitza Stark Marked gene: DBH as ready
Mendeliome v0.3889 DBH Zornitza Stark Gene: dbh has been classified as Green List (High Evidence).
Mendeliome v0.3889 DBH Zornitza Stark Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360
Mendeliome v0.3888 DBH Zornitza Stark Publications for gene: DBH were set to
Mendeliome v0.3887 DBH Zornitza Stark Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3886 DBH Zornitza Stark reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.784 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Genetic Epilepsy v0.784 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.23 DBH Zornitza Stark Marked gene: DBH as ready
Neurotransmitter Defects v0.23 DBH Zornitza Stark Gene: dbh has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.23 DBH Zornitza Stark Phenotypes for gene: DBH were changed from to Dopamine beta-hydroxylase deficiency, MIM#223360
Neurotransmitter Defects v0.22 DBH Zornitza Stark Publications for gene: DBH were set to
Neurotransmitter Defects v0.21 DBH Zornitza Stark Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.20 DBH Zornitza Stark reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.19 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Genetic Epilepsy v0.784 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607
Genetic Epilepsy v0.783 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Genetic Epilepsy v0.782 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.781 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3886 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Mendeliome v0.3886 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Green List (High Evidence).
Mendeliome v0.3886 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607
Mendeliome v0.3885 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Mendeliome v0.3884 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3883 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Marked gene: ARHGEF9 as ready
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.18 ARHGEF9 Zornitza Stark Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8, MIM# 300607
Neurotransmitter Defects v0.17 ARHGEF9 Zornitza Stark Publications for gene: ARHGEF9 were set to
Neurotransmitter Defects v0.16 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.15 ARHGEF9 Zornitza Stark Classified gene: ARHGEF9 as Red List (low evidence)
Neurotransmitter Defects v0.15 ARHGEF9 Zornitza Stark Gene: arhgef9 has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.14 ARHGEF9 Zornitza Stark reviewed gene: ARHGEF9: Rating: RED; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Marked gene: ALPL as ready
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Gene: alpl has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.14 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia
Neurotransmitter Defects v0.13 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurotransmitter Defects v0.12 ALPL Zornitza Stark Classified gene: ALPL as Red List (low evidence)
Neurotransmitter Defects v0.12 ALPL Zornitza Stark Gene: alpl has been classified as Red List (Low Evidence).
Neurotransmitter Defects v0.11 ALPL Zornitza Stark reviewed gene: ALPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3883 STAT5B Zornitza Stark Marked gene: STAT5B as ready
Mendeliome v0.3883 STAT5B Zornitza Stark Gene: stat5b has been classified as Green List (High Evidence).
Mendeliome v0.3883 STAT5B Zornitza Stark Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immunodeficiency, MIM# 245590
Mendeliome v0.3882 STAT5B Zornitza Stark Publications for gene: STAT5B were set to
Mendeliome v0.3881 STAT5B Zornitza Stark Mode of pathogenicity for gene: STAT5B was changed from to Other
Mendeliome v0.3880 STAT5B Zornitza Stark Mode of inheritance for gene: STAT5B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3879 STAT5B Zornitza Stark reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29844444; Phenotypes: Growth hormone insensitivity with immunodeficiency, MIM# 245590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.49 TPMT David Metz commented on gene: TPMT: In newborn infants, peripheral blood TPMT activity is 50% greater than in race-matched adults and shows a distribution of activity consistent with the polymorphism characterized in adults.
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.11 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from to Epilepsy, pyridoxine-dependent, MIM# 266100
Neurotransmitter Defects v0.10 ALDH7A1 Zornitza Stark Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.9 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3879 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Mendeliome v0.3879 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Mendeliome v0.3879 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Mendeliome v0.3878 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Mendeliome v0.3877 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3876 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.781 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Genetic Epilepsy v0.781 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.781 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Genetic Epilepsy v0.780 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Genetic Epilepsy v0.779 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.778 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.9 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Neurotransmitter Defects v0.8 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Neurotransmitter Defects v0.7 ALDH5A1 Zornitza Stark Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.6 ALDH5A1 Zornitza Stark reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3876 ABAT Zornitza Stark Marked gene: ABAT as ready
Mendeliome v0.3876 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Mendeliome v0.3876 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163; mtDNA depletion syndrome (MDS)
Mendeliome v0.3875 ABAT Zornitza Stark Publications for gene: ABAT were set to
Mendeliome v0.3874 ABAT Zornitza Stark Deleted their comment
Mendeliome v0.3874 ABAT Zornitza Stark edited their review of gene: ABAT: Added comment: Bi-allelic variants in ABAT are associated with a neurotransmitter disorder. However, there are also reports of families with encephalomyopathic MDS caused by bi-allelic variants in ABAT resulting in elevated GABA in subjects' brains as well as decreased mtDNA levels in subjects' fibroblasts. Nucleoside rescue and co-IP experiments demonstrate that ABAT functions in the mitochondrial nucleoside salvage pathway to facilitate conversion of dNDPs to dNTPs. Unclear whether this a distinct disorder or part of a continuum caused by the enzyme being part of two pathways.; Changed publications: 25738457, 27903293, 28411234, 27596361, 20052547, 10407778, 6148708; Changed phenotypes: GABA-transaminase deficiency, MIM# 613163, mtDNA depletion syndrome (MDS)
Mendeliome v0.3874 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.9 ABAT Zornitza Stark Marked gene: ABAT as ready
Congenital Diarrhoea v0.9 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.9 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163
Congenital Diarrhoea v0.8 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Diarrhoea v0.7 ABAT Zornitza Stark Classified gene: ABAT as Red List (low evidence)
Congenital Diarrhoea v0.7 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Congenital Diarrhoea v0.6 ABAT Zornitza Stark reviewed gene: ABAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.192 ABAT Zornitza Stark Marked gene: ABAT as ready
Callosome v0.192 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Callosome v0.192 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Callosome v0.191 ABAT Zornitza Stark Publications for gene: ABAT were set to
Callosome v0.190 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.189 ABAT Zornitza Stark Classified gene: ABAT as Red List (low evidence)
Callosome v0.189 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Callosome v0.188 ABAT Zornitza Stark changed review comment from: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype; to: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype. However, predominant MRI finding is that of abnormal myelination. In a series of 10 individuals in PMID 28411234, none had CC abnormalities. CC abnormalities appear to have only been reported in a single individual in PMID 10407778.
Callosome v0.188 ABAT Zornitza Stark edited their review of gene: ABAT: Changed rating: RED; Changed publications: 10407778, 20052547, 27596361, 28411234
Mitochondrial disease v0.463 ABAT Zornitza Stark Marked gene: ABAT as ready
Mitochondrial disease v0.463 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Mitochondrial disease v0.463 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to mtDNA depletion syndrome (MDS)
Mitochondrial disease v0.462 ABAT Zornitza Stark Publications for gene: ABAT were set to
Mitochondrial disease v0.461 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.460 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25738457, 27903293; Phenotypes: mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Marked gene: ABAT as ready
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Neurotransmitter Defects v0.6 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163
Neurotransmitter Defects v0.5 ABAT Zornitza Stark Publications for gene: ABAT were set to
Neurotransmitter Defects v0.4 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Neurotransmitter Defects v0.3 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28411234, 27596361, 20052547, 10407778, 6148708; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark reviewed gene: LMBRD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Marked gene: LMBRD2 as ready
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Mendeliome v0.3873 LMBRD2 Zornitza Stark Marked gene: LMBRD2 as ready
Mendeliome v0.3873 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Mendeliome v0.3873 LMBRD2 Zornitza Stark Classified gene: LMBRD2 as Green List (high evidence)
Mendeliome v0.3873 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Mendeliome v0.3872 LMBRD2 Zornitza Stark gene: LMBRD2 was added
gene: LMBRD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787
Phenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Mode of pathogenicity for gene: LMBRD2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: LMBRD2 was set to GREEN
Added comment: 13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies.

► Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants. Features included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific). All had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity. 5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect. There was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H). The gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely. As the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation. It has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.

â–º Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies.
Sources: Literature
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Classified gene: LMBRD2 as Green List (high evidence)
Genetic Epilepsy v0.778 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark reviewed gene: LMBRD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Marked gene: LMBRD2 as ready
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Classified gene: LMBRD2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2855 LMBRD2 Zornitza Stark Gene: lmbrd2 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.145 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Cerebellar and Pontocerebellar Hypoplasia v0.144 KAT5 Zornitza Stark Publications for gene: KAT5 were set to
Cerebellar and Pontocerebellar Hypoplasia v0.143 KAT5 Zornitza Stark Mode of pathogenicity for gene: KAT5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cerebellar and Pontocerebellar Hypoplasia v0.142 KAT5 Zornitza Stark Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v0.141 KAT5 Zornitza Stark Classified gene: KAT5 as Amber List (moderate evidence)
Cerebellar and Pontocerebellar Hypoplasia v0.141 KAT5 Zornitza Stark Gene: kat5 has been classified as Amber List (Moderate Evidence).
Cerebellar and Pontocerebellar Hypoplasia v0.140 KAT5 Zornitza Stark edited their review of gene: KAT5: Added comment: Cerebellar atrophy reported in 2 of 3 individuals.; Changed rating: AMBER; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 32822602; Changed phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3871 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Mendeliome v0.3870 KAT5 Zornitza Stark Publications for gene: KAT5 were set to
Mendeliome v0.3869 KAT5 Zornitza Stark Mode of pathogenicity for gene: KAT5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.3868 KAT5 Zornitza Stark Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3867 KAT5 Zornitza Stark Classified gene: KAT5 as Green List (high evidence)
Mendeliome v0.3867 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Marked gene: KAT5 as ready
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Classified gene: KAT5 as Green List (high evidence)
Genetic Epilepsy v0.777 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2854 KAT5 Zornitza Stark Phenotypes for gene: KAT5 were changed from to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Intellectual disability syndromic and non-syndromic v0.2853 KAT5 Zornitza Stark Publications for gene: KAT5 were set to
Intellectual disability syndromic and non-syndromic v0.2852 KAT5 Zornitza Stark Mode of pathogenicity for gene: KAT5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Intellectual disability syndromic and non-syndromic v0.2851 KAT5 Zornitza Stark Mode of inheritance for gene: KAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2850 KAT5 Zornitza Stark Classified gene: KAT5 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.2850 KAT5 Zornitza Stark Gene: kat5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2849 KAT5 Konstantinos Varvagiannis reviewed gene: KAT5: 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: 32822602; Phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3866 KAT5 Konstantinos Varvagiannis reviewed gene: KAT5: 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: 32822602; Phenotypes: Severe global developmental delay, Intellectual disability, Seizures, Microcephaly, Behavioral abnormality, Sleep disturbance, Morphological abnormality of the central nervous system, Short stature, Oral cleft, Abnormality of the face; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.776 KAT5 Konstantinos Varvagiannis gene: KAT5 was added
gene: KAT5 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to Severe global developmental delay; Intellectual disability; Seizures; Microcephaly; Behavioral abnormality; Sleep disturbance; Morphological abnormality of the central nervous system; Short stature; Oral cleft; Abnormality of the face
Penetrance for gene: KAT5 were set to unknown
Mode of pathogenicity for gene: KAT5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KAT5 was set to GREEN
Added comment: Humbert el al (2020 - PMID: 32822602) report 3 individuals with de novo missense KAT5 variants.

Features included severe DD (3/3) and ID (2/2 - the 3rd was 18m on last examination), microcephaly (2/3), behavioral anomalies (3/3) including severe sleep disorder (3/3 - table S1 / night walking, sleep onset delay, excessive daytime sleepiness), seizures (3/3 - variable type and age of onset), brain MRI abnormalities (3/3 - CC, cerebellar atrophy each in 2 subjects, focal polymicrogyria in 1), various genitourinary anomalies (3/3). All had moderately short stature (-1.95 SD to -2.9SD). Cleft LP and submucous cleft P were observed in 2/3. Facial features included round face, flat profile, depressed nasal bridge, downturned corners of mouth and prognathism (each in at least 2 subjects).

KAT5 encodes a lysine acetyltransferase involved in gene expression, DNA repair, chromatine remodeling, apoptosis and cell proliferation. It is part of the NuA4 histone acetyltransferase (HAT) complex also called TIP60/p400 (TIP60 being another name for KAT5). Regulation by histone acetylation is important for proper development.

3 missense KAT5 SNVs were identified, one within the chromobarrel domain (aa 7-65 / NM_006388.3) and 2 in the acetyl-CoA binding domain (aa 365-420).

Following generation of K562 cells expressing either WT or variants, it was demonstrated that wt/mt KAT5 assemble normally into NuA4/TIP60 complexes. Histone acetyltransferase activity was however impaired for all variants, suggesting a partial loss of function mechanism.

As Humbert et al comment, it is possible that KAT5 haploinsufficiency does not lead to a
syndrome. Over 10 high-confidence LoF variants are listed in gnomAD. Heterozygous Kat5 ko mice have normal development, growth and fertility. Homozygous ko mice are embryonic lethal. In haploinsufficient mice, reduction of mRNA to 50% has been shown to be compensated at the protein level in adipose and/or other tissues (several studies cited).

RNA-Seq in fibroblasts from 2 affected individuals revealed dysregulation of highly relevant genes (e.g. for neurodevelopment, circadian clock, etc).

Mutations in KAT6A/B, encoding two other acetyltransferases cause neurodevelopmental disorders with features overlapping those observed in individuals with KAT5 variants (e.g. DD/ID, microcephaly, seizures, sleep disturbance, clefts, CC or genital anomalies).

Consider inclusion in the ID and epilepsy panels with green rating as well as the gene panel for clefting with amber.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2849 LMBRD2 Konstantinos Varvagiannis gene: LMBRD2 was added
gene: LMBRD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787
Phenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Penetrance for gene: LMBRD2 were set to unknown
Mode of pathogenicity for gene: LMBRD2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: LMBRD2 was set to AMBER
Added comment: You may consider inclusion with green (13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies) or amber rating (role of the gene not known, no variant studies, animal model probably not available).

â–º Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants.

Features included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific).

All had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity.

5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect.

There was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H).

The gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely.

As the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation.

It has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.

â–º Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies.
Sources: Literature
Genetic Epilepsy v0.776 LMBRD2 Konstantinos Varvagiannis gene: LMBRD2 was added
gene: LMBRD2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMBRD2 were set to 32820033; https://doi.org/10.1101/797787
Phenotypes for gene: LMBRD2 were set to Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Penetrance for gene: LMBRD2 were set to unknown
Mode of pathogenicity for gene: LMBRD2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: LMBRD2 was set to AMBER
Added comment: You may consider inclusion with green (13 individuals with dn missense SNVs overall, overlapping features for 10 with available phenotype / a recurring variant has been identified in 2 different studies) or amber rating (role of the gene not known, no variant studies, animal model probably not available).

â–º Malhotra et al (2020 - PMID: 32820033) report on 10 unrelated individuals with de novo missense LMBRD2 variants.

Features included DD (9/10), ID (6/8 of relevant age), microcephaly (7/10), seizures (5/10 - >=3 different variants), structural brain abnormalities (e.g. thin CC in 6/9), highly variable ocular abnormalities (5/10) and dysmorphic features in some (7/10 - nonspecific).

All had variable prior non-diagnostic genetic tests (CMA, gene panel, mendeliome, karyotype). WES/WGS revealed LMBRD2 missense variants, in all cases de novo. A single individual had additional variants with weaker evidence of pathogenicity.

5 unique missense SNVs and 2 recurrent ones (NM_001007527:c.367T>C - p.Trp123Arg / c.1448G>A - p.Arg483His) were identified. These occurred in different exons. Variants were not present in gnomAD and all had several in silico predictions in favor of a deleterious effect.

There was phenotypic variability among individuals with the same variant (e.g. seizures in 1/3 and microchephaly in 2/3 of those harboring R483H).

The gene has a pLI of 0 (although o/e ranges from 0.23 to 0.55), %HI of 15.13 and z-score of 2.27. The authors presume that haploinsufficiency may not apply, and consider a gain-of-function/dominant-negative effect more likely.

As the authors comment LMBRD2 (LMBR1 domain containing 2) encodes a membrane bound protein with poorly described function. It is widely expressed across tissues with notable expression in human brain (also in Drosophila, or Xenopus laevis). It displays high interspecies conservation.

It has been suggested (Paek et al - PMID: 28388415) that LMBRD2 is a potential regulator of β2 adrenoreceptor signalling through involvement in GPCR signalling.

â–º Kaplanis et al (2020 - https://doi.org/10.1101/797787) in a dataset of 31058 parent-offspring trios (WES) previously identified 3 individuals with developmental disorder, harboring c.1448G>A - p.Arg483His. These individuals (1 from the DDD study, and 2 GeneDx patients) appear in Decipher. [ https://decipher.sanger.ac.uk/ddd/research-variant/40e17c78cc9655a6721006fc1e0c98db/overview ]. The preprint by Kaplanis et al is cited by Malhotra et al, with Arg483His reported in 6 patients overall in both studies.
Sources: Literature
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Classified gene: ALPK3 as Amber List (moderate evidence)
Hydrops fetalis v0.186 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.185 ALPK3 Zornitza Stark gene: ALPK3 was added
gene: ALPK3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM# 618052
Review for gene: ALPK3 was set to AMBER
Added comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.
Sources: Expert list
Hydrops fetalis v0.184 BRAF Zornitza Stark Marked gene: BRAF as ready
Hydrops fetalis v0.184 BRAF Zornitza Stark Gene: braf has been classified as Green List (High Evidence).
Hydrops fetalis v0.184 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from to Cardiofaciocutaneous syndrome, MIM# 115150
Hydrops fetalis v0.183 BRAF Zornitza Stark Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hydrops fetalis v0.182 BRAF Zornitza Stark Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.181 BRAF Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Gene: asah1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.181 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Farber lipogranulomatosis, MIM# 228000
Hydrops fetalis v0.180 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Hydrops fetalis v0.179 ASAH1 Zornitza Stark Mode of inheritance for gene: ASAH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.178 ASAH1 Zornitza Stark reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26578498; Phenotypes: Farber lipogranulomatosis, MIM# 228000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.178 NIPBL Zornitza Stark Marked gene: NIPBL as ready
Hydrops fetalis v0.178 NIPBL Zornitza Stark Gene: nipbl has been classified as Red List (Low Evidence).
Hydrops fetalis v0.178 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPBL were set to 30712880
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470
Review for gene: NIPBL was set to RED
Added comment: Single case presenting as hydrops reported in PAGE study.
Sources: Expert list
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Classified gene: FRAS1 as Amber List (moderate evidence)
Hydrops fetalis v0.177 FRAS1 Zornitza Stark Gene: fras1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.176 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRAS1 were set to 27859469
Phenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM# 219000
Review for gene: FRAS1 was set to AMBER
Added comment: In a series of 38 antenatally ascertained cases, 9 had hydrops. However, 11/38 had molecular testing, and only 8 had molecularly confirmed diagnosis (FRAS1 variants, none in FREM2 or GRIP1).
Sources: Expert list
Hydrops fetalis v0.175 CLCNKB Zornitza Stark Publications for gene: CLCNKB were set to
Hydrops fetalis v0.174 CLCNKB Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops identified.
Sources: Expert list
Hydrops fetalis v0.174 CLCNKB Zornitza Stark edited their review of gene: CLCNKB: Changed publications: 23484775
Hydrops fetalis v0.174 CLCNKA Zornitza Stark Publications for gene: CLCNKA were set to
Hydrops fetalis v0.173 CLCNKA Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report of hydrops found.
Sources: Expert list
Hydrops fetalis v0.173 CLCNKA Zornitza Stark changed review comment from: Typically Bartter syndrome presents with polyhydramnios antenatally, cannot find specific reference though OMIM lists hydrops as a feature.
Sources: Expert list; to: Typically Bartter syndrome presents with polyhydramnios antenatally, single case report found.
Sources: Expert list
Hydrops fetalis v0.173 CLCNKA Zornitza Stark edited their review of gene: CLCNKA: Changed publications: 23484775
Hydrops fetalis v0.173 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Hydrops fetalis v0.173 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.173 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 16450351
Phenotypes for gene: LAMB2 were set to Pierson syndrome, MIM# 609049
Review for gene: LAMB2 was set to RED
Added comment: Single family reported with antenatal presentation in four pregnancies, one had hydrops.
Sources: Expert list
Hydrops fetalis v0.172 ESCO2 Zornitza Stark Marked gene: ESCO2 as ready
Hydrops fetalis v0.172 ESCO2 Zornitza Stark Gene: esco2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.172 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to 16547991
Phenotypes for gene: ESCO2 were set to Roberts syndrome, MIM# 268300
Review for gene: ESCO2 was set to RED
Added comment: Single case report, diagnosis of Roberts syndrome not molecularly confirmed. Pregnancy complicated by T18 in other twin.
Sources: Expert list
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark Marked gene: SLC35D1 as ready
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark Gene: slc35d1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.171 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35D1 were set to 11200994
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, MIM# 269250
Review for gene: SLC35D1 was set to RED
Added comment: Single case report of hydrops, no molecular testing.
Sources: Expert list
Polydactyly v0.175 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Polydactyly v0.175 NEK1 Zornitza Stark Gene: nek1 has been classified as Green List (High Evidence).
Polydactyly v0.175 NEK1 Zornitza Stark Phenotypes for gene: NEK1 were changed from to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Polydactyly v0.174 NEK1 Zornitza Stark Publications for gene: NEK1 were set to
Polydactyly v0.173 NEK1 Zornitza Stark Mode of inheritance for gene: NEK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.172 NEK1 Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.170 NEK1 Zornitza Stark Marked gene: NEK1 as ready
Hydrops fetalis v0.170 NEK1 Zornitza Stark Gene: nek1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.170 NEK1 Zornitza Stark edited their review of gene: NEK1: Changed rating: RED; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Hydrops fetalis v0.170 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK1 were set to 7491205; 15605271
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Review for gene: NEK1 was set to AMBER
Added comment: Hydrops reported but not in molecularly confirmed cases.
Sources: Expert list
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Amber List (moderate evidence)
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.168 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 27925158
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Review for gene: DYNC2H1 was set to AMBER
Added comment: Two families reported with severe antenatal presentation including chylothorax, ascites, oedema.
Sources: Expert list
Hydrops fetalis v0.167 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Hydrops fetalis v0.167 IFT122 Zornitza Stark Gene: ift122 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.167 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 28370949
Phenotypes for gene: IFT122 were set to Beemer-Langer syndrome
Review for gene: IFT122 was set to RED
Added comment: Single case report of a presentation consistent with the severe ciliopathy Beemer-Langer syndrome, and mild generalised oedema identified antenatally.
Sources: Expert list
Hydrops fetalis v0.166 UROS Zornitza Stark changed review comment from: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports.
Sources: Expert list; to: Hydrops is a listed feature in reviews of this condition. Two cases reported in PMID 12533808, but only a single variant identified so diagnosis not molecularly confirmed.
Sources: Expert list
Hydrops fetalis v0.166 UROS Zornitza Stark edited their review of gene: UROS: Changed publications: 24027798, 12533808; Changed phenotypes: Porphyria, congenital erythropoietic, MIM# 263700
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Marked gene: ITGA9 as ready
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Gene: itga9 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.166 ITGA9 Zornitza Stark Tag disputed tag was added to gene: ITGA9.
Hydrops fetalis v0.166 ITGA9 Zornitza Stark gene: ITGA9 was added
gene: ITGA9 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ITGA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITGA9 were set to 21584887
Phenotypes for gene: ITGA9 were set to Chylothorax
Review for gene: ITGA9 was set to RED
Added comment: The p.Gly404Ser variant reported in PMID 21584887 in association with chylothorax in multiple fetuses is present in 672 hets and 11 homs in gnomad, which is out of keeping for a rare Mendelian disorder.
Sources: Expert list
Mendeliome v0.3866 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Mendeliome v0.3866 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Mendeliome v0.3866 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Mendeliome v0.3865 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Mendeliome v0.3864 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3863 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181, 30389403, 32219868, 32600459, 32548275; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246), Optic atrophy 12, MIM# 618977; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.113 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.112 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Optic atrophy 12, MIM# 618977
Optic Atrophy v0.111 AFG3L2 Zornitza Stark edited their review of gene: AFG3L2: Changed rating: GREEN; Changed phenotypes: Optic atrophy 12, MIM# 618977; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3863 MYOD1 Zornitza Stark Marked gene: MYOD1 as ready
Mendeliome v0.3863 MYOD1 Zornitza Stark Gene: myod1 has been classified as Green List (High Evidence).
Mendeliome v0.3863 MYOD1 Zornitza Stark Classified gene: MYOD1 as Green List (high evidence)
Mendeliome v0.3863 MYOD1 Zornitza Stark Gene: myod1 has been classified as Green List (High Evidence).
Mendeliome v0.3862 MYOD1 Zornitza Stark gene: MYOD1 was added
gene: MYOD1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYOD1 were set to 26733463; 30403323; 31260566
Phenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975
Review for gene: MYOD1 was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Marked gene: MT-RNR2 as ready
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Classified gene: MT-RNR2 as Red List (low evidence)
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.459 MT-RNR2 Chern Lim gene: MT-RNR2 was added
gene: MT-RNR2 was added to Mitochondrial disease. Sources: Expert Review,Literature
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Publications for gene: MT-RNR2 were set to 29233888
Review for gene: MT-RNR2 was set to RED
Added comment: Disease association not established (PMID:29233888 and in-house expert review).
Sources: Expert Review, Literature
Intellectual disability syndromic and non-syndromic v0.2849 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Intellectual disability syndromic and non-syndromic v0.2849 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2849 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Intellectual disability syndromic and non-syndromic v0.2848 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Intellectual disability syndromic and non-syndromic v0.2847 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2846 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.134 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Regression v0.134 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Red List (Low Evidence).
Regression v0.134 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Regression v0.133 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Regression v0.132 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.131 TMEM237 Zornitza Stark Classified gene: TMEM237 as Red List (low evidence)
Regression v0.131 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Red List (Low Evidence).
Regression v0.130 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: RED; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v0.113 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Renal Ciliopathies and Nephronophthisis v0.112 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Renal Ciliopathies and Nephronophthisis v0.111 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v0.110 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Polydactyly v0.172 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Polydactyly v0.172 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Polydactyly v0.172 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Polydactyly v0.171 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Polydactyly v0.170 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3861 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Mendeliome v0.3861 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Mendeliome v0.3861 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Mendeliome v0.3860 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3859 TMEM237 Zornitza Stark changed review comment from: Ataxia is part of the phenotype.; to: Well established gene-disease association.
Ciliopathies v0.205 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Ciliopathies v0.205 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Ciliopathies v0.205 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Ciliopathies v0.204 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Ciliopathies v0.203 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v0.202 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Marked gene: TMEM237 as ready
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Gene: tmem237 has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v0.86 TMEM237 Zornitza Stark Phenotypes for gene: TMEM237 were changed from to Joubert syndrome 14, MIM# 614424
Joubert syndrome and other neurological ciliopathies v0.85 TMEM237 Zornitza Stark Publications for gene: TMEM237 were set to
Joubert syndrome and other neurological ciliopathies v0.84 TMEM237 Zornitza Stark Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Joubert syndrome and other neurological ciliopathies v0.83 TMEM237 Zornitza Stark reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Classified gene: NOD2 as Green List (high evidence)
Inflammatory bowel disease v0.28 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.27 NOD2 Zornitza Stark gene: NOD2 was added
gene: NOD2 was added to Inflammatory bowel disease. Sources: Expert Review
Mode of inheritance for gene: NOD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NOD2 were set to 11385576; 17804789
Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321
Review for gene: NOD2 was set to GREEN
Added comment: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease.
Sources: Expert Review
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Chronic granulomatous disease v0.11 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome MIM#186580 to Blau syndrome MIM#186580; granulomatous disease
Chronic granulomatous disease v0.10 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Chronic granulomatous disease v0.9 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26164256; Phenotypes: Blau syndrome syndrome, MIM# 186580, granulomatous disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580
Autoinflammatory Disorders v0.89 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Autoinflammatory Disorders v0.88 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.87 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3859 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Mendeliome v0.3859 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Mendeliome v0.3859 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580
Mendeliome v0.3858 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Mendeliome v0.3857 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3856 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3856 PAX3 Zornitza Stark Marked gene: PAX3 as ready
Mendeliome v0.3856 PAX3 Zornitza Stark Gene: pax3 has been classified as Green List (High Evidence).
Mendeliome v0.3856 PAX3 Zornitza Stark Phenotypes for gene: PAX3 were changed from to Craniofacial-deafness-hand syndrome (MIM#122880), AD 2; Waardenburg syndrome, type 1 (MIM#193500), AD; Waardenburg syndrome, type 3 (MIM#148820), AD, AR
Mendeliome v0.3855 PAX3 Zornitza Stark Publications for gene: PAX3 were set to
Mendeliome v0.3854 PAX3 Zornitza Stark Mode of inheritance for gene: PAX3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.2846 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Intellectual disability syndromic and non-syndromic v0.2846 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2846 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome (MIM#610443)
Intellectual disability syndromic and non-syndromic v0.2845 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Intellectual disability syndromic and non-syndromic v0.2844 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2843 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544363; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3853 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544363; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3853 KANSL1 Zornitza Stark Tag SV/CNV tag was added to gene: KANSL1.
Mendeliome v0.3853 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Mendeliome v0.3852 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome (MIM#610443)
Mendeliome v0.3851 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.21 Zornitza Stark Panel name changed from Brain channelopathy to Brain Channelopathies
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Marked gene: CASQ1 as ready
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Gene: casq1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.11 CASQ1 Zornitza Stark Phenotypes for gene: CASQ1 were changed from Myopathy, vacuolar, with casq1 aggregates to Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231
Skeletal Muscle Channelopathies v0.10 CASQ1 Zornitza Stark Classified gene: CASQ1 as Red List (low evidence)
Skeletal Muscle Channelopathies v0.10 CASQ1 Zornitza Stark Gene: casq1 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.9 CASQ1 Zornitza Stark reviewed gene: CASQ1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark Marked gene: ATP1A2 as ready
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark Gene: atp1a2 has been classified as Red List (Low Evidence).
Skeletal Muscle Channelopathies v0.9 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Skeletal Muscle Channelopathies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 30423015
Phenotypes for gene: ATP1A2 were set to Hypokalaemic periodic paralysis
Review for gene: ATP1A2 was set to RED
Added comment: Gene is classically associated with brain phenotypes such as alternating hemiplegia, but single report of hypokalaemia periodic paralysis with supporting functional data.
Sources: Expert list
Brain Channelopathies v0.19 Zornitza Stark Panel name changed from Channelopathy to Brain channelopathy
Brain Channelopathies v0.18 Zornitza Stark removed gene:SCN4A from the panel
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v0.8 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Skeletal Muscle Channelopathies v0.7 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.17 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Brain Channelopathies v0.17 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Brain Channelopathies v0.17 SCN4A Zornitza Stark Phenotypes for gene: SCN4A were changed from to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345
Brain Channelopathies v0.16 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Brain Channelopathies v0.15 SCN4A Zornitza Stark Mode of inheritance for gene: SCN4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.14 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.14 SCN8A Zornitza Stark Marked gene: SCN8A as ready
Brain Channelopathies v0.14 SCN8A Zornitza Stark Gene: scn8a has been classified as Green List (High Evidence).
Brain Channelopathies v0.14 SCN8A Zornitza Stark Phenotypes for gene: SCN8A were changed from to Myoclonus, familial, 2, MIM# 618364; epilepsy; paroxysmal kinesigenic dyskinesias
Brain Channelopathies v0.13 SCN8A Zornitza Stark Publications for gene: SCN8A were set to
Brain Channelopathies v0.12 SCN8A Zornitza Stark Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.11 SCN8A Zornitza Stark reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29726066, 27098556; Phenotypes: Myoclonus, familial, 2, MIM# 618364, epilepsy, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.11 KCNMA1 Zornitza Stark Marked gene: KCNMA1 as ready
Brain Channelopathies v0.11 KCNMA1 Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence).
Brain Channelopathies v0.11 KCNMA1 Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446
Brain Channelopathies v0.10 KCNMA1 Zornitza Stark Publications for gene: KCNMA1 were set to
Brain Channelopathies v0.9 KCNMA1 Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.8 KCNMA1 Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15937479, 26195193; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.8 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Brain Channelopathies v0.8 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Brain Channelopathies v0.8 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Andersen syndrome, MIM# 170390
Brain Channelopathies v0.7 KCNJ2 Zornitza Stark Publications for gene: KCNJ2 were set to
Brain Channelopathies v0.6 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Channelopathies v0.5 KCNJ2 Zornitza Stark reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16217063, 16571646, 16419128, 17324964; Phenotypes: Andersen syndrome, MIM# 170390; Mode of inheritance: None
Mendeliome v0.3850 PAX3 Michelle Torres reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301703, 30854529; Phenotypes: Craniofacial-deafness-hand syndrome (MIM#122880), AD 2, Rhabdomyosarcoma 2, alveolar (MIM#268220), SMu, Waardenburg syndrome, type 1 (MIM#193500), AD, Waardenburg syndrome, type 3 (MIM#148820), AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3850 KANSL1 Michelle Torres reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Koolen-De Vries syndrome (MIM#610443); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3850 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Mendeliome v0.3850 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Mendeliome v0.3850 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Mendeliome v0.3849 ESRRB Zornitza Stark Publications for gene: ESRRB were set to
Mendeliome v0.3848 ESRRB Zornitza Stark Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3847 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Marked gene: ESRRB as ready
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Gene: esrrb has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.377 ESRRB Zornitza Stark Phenotypes for gene: ESRRB were changed from to Deafness, autosomal recessive 35, MIM#608565
Deafness_IsolatedAndComplex v0.376 ESRRB Zornitza Stark Publications for gene: ESRRB were set to
Deafness_IsolatedAndComplex v0.375 ESRRB Zornitza Stark Mode of inheritance for gene: ESRRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.374 ESRRB Zornitza Stark reviewed gene: ESRRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179891, 31389194, 32681043; Phenotypes: Deafness, autosomal recessive 35, MIM#608565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.165 EBP Zornitza Stark changed review comment from: XLD. Listed as a cause of hydrops in a review, cannot find reported cases.
Sources: Expert list; to: XLD. Listed as a cause of hydrops in a review, but can only find a single reported case.
Sources: Expert list
Hydrops fetalis v0.165 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 23137060, 25754886; Changed phenotypes: Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Hydrops fetalis v0.165 ARSE Zornitza Stark Marked gene: ARSE as ready
Hydrops fetalis v0.165 ARSE Zornitza Stark Gene: arse has been classified as Red List (Low Evidence).
Hydrops fetalis v0.165 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Review for gene: ARSE was set to RED
Added comment: Cannot find reports linking with hydrops.
Sources: Expert list
Hydrops fetalis v0.164 ARSA Zornitza Stark Marked gene: ARSA as ready
Hydrops fetalis v0.164 ARSA Zornitza Stark Gene: arsa has been classified as Red List (Low Evidence).
Hydrops fetalis v0.164 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM# 250100
Review for gene: ARSA was set to RED
Added comment: MLD is a lysosomal disorder and several lysosomal disorders can present with hydrops. However symptom onset for MLD is typically 6-12 months, and I cannot find reports of hydrops associated with variants in ARSA.
Sources: Expert list
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Marked gene: HNRNPA2B1 as ready
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Mendeliome v0.3847 HNRNPA2B1 Zornitza Stark Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3846 HNRNPA2B1 Zornitza Stark gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965
Phenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Review for gene: HNRNPA2B1 was set to AMBER
Added comment: One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model.
Sources: Literature
Mendeliome v0.3845 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Mendeliome v0.3845 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3845 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Mendeliome v0.3845 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3844 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Cataract v0.227 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Cataract v0.227 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Cataract v0.227 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Cataract v0.227 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Cataract v0.226 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Cataract. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v0.374 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v0.373 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness; cataract
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Marked gene: HNRNPA2B1 as ready
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Early-onset Dementia v0.63 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.62 HNRNPA2B1 Bryony Thompson gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965
Phenotypes for gene: HNRNPA2B1 were set to Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Review for gene: HNRNPA2B1 was set to AMBER
Added comment: One family reported that segregates cognitive impairment as part of the phenotype, and extensive functional analysis of protein, including a drosophila model.
Sources: Literature
Early-onset Dementia v0.61 HNRNPA1 Bryony Thompson Marked gene: HNRNPA1 as ready
Early-onset Dementia v0.61 HNRNPA1 Bryony Thompson Gene: hnrnpa1 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.61 HNRNPA1 Bryony Thompson gene: HNRNPA1 was added
gene: HNRNPA1 was added to Early-onset Dementia. Sources: Other
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPA1 were set to 24612671; 24119545; 23455423
Phenotypes for gene: HNRNPA1 were set to Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 MIM#615424; Amyotrophic lateral sclerosis 20 MIM#615426
Review for gene: HNRNPA1 was set to RED
Added comment: I cannot find any evidence that pathogenic variants in this gene cause dementia. The conditions associated with the gene are a pure ALS without FTD and myopathy.
Sources: Other
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Marked gene: LOR as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Classified gene: LOR as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.93 LOR Zornitza Stark Gene: lor has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Classified gene: KRT2 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.92 KRT2 Zornitza Stark Gene: krt2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 KRT2 Zornitza Stark reviewed gene: KRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 LOR Paul De Fazio gene: LOR was added
gene: LOR was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LOR were set to 11703298; 9326323; 8673107; 9326398; 25234742
Phenotypes for gene: LOR were set to Vohwinkel syndrome with ichthyosis MIM#604117
Review for gene: LOR was set to GREEN
gene: LOR was marked as current diagnostic
Added comment: Multiple families reported (14, as of PMID:25234742). Honeycomb palmoplantar keratoderma (PPK) and generalized, mild ichthyosis are characteristic.

From OMIM: Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 KRT2 Paul De Fazio gene: KRT2 was added
gene: KRT2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT2 were set to 22612346; 26581228; 17970808
Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Review for gene: KRT2 was set to AMBER
gene: KRT2 was marked as current diagnostic
Added comment: Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens.
Clinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity.

PPK is not a feature of this disease. However, according to Cervantes et al (PMID: 22612346): "Another important difference between EI [epidermolytic ichthyosis] and SEI is palmoplantar keratoderma (PPK), which affects 60% of patients with EI but is never seen with SEI. Although blistering usually spares the palms and soles in SEI, some patients have shown involvement, making it difficult to determine the clinical difference between this and PPK in EI." One case report is in PMID: 17970808.

I don't know if this belongs on this panel.
Sources: Literature
Mendeliome v0.3843 SOS2 Zornitza Stark Marked gene: SOS2 as ready
Mendeliome v0.3843 SOS2 Zornitza Stark Gene: sos2 has been classified as Green List (High Evidence).
Mendeliome v0.3843 SOS2 Zornitza Stark Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM#616559, AD
Mendeliome v0.3842 SOS2 Zornitza Stark Publications for gene: SOS2 were set to
Mendeliome v0.3841 SOS2 Zornitza Stark Mode of pathogenicity for gene: SOS2 was changed from to Other
Mendeliome v0.3840 SOS2 Zornitza Stark Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.91 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Marked gene: CTSC as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Classified gene: CTSC as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.90 CTSC Zornitza Stark Gene: ctsc has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Classified gene: MBTPS2 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.89 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CYP4F22 Paul De Fazio changed review comment from: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature; to: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK (PMID: 18034255). OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CYP4F22 Paul De Fazio gene: CYP4F22 was added
gene: CYP4F22 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP4F22 were set to 16436457; 18034255; 32069299
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5 MIM#604777
Review for gene: CYP4F22 was set to AMBER
gene: CYP4F22 was marked as current diagnostic
Added comment: Gene disease association is established (>10 families). Erythroderma, hyperkeratosis and orthohyperkeratosis are seen in affected individuals. One family had PPK. OMIM states there is "Palmoplantar keratoderma (in some patients)" associated with this condition, but I can only find the one family.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CTSC Paul De Fazio gene: CTSC was added
gene: CTSC was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 11106356; 32601924
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome (MIM#245000)
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: Papillon-Lefevre syndrome manifests with PPK. Sufficient unrelated patients (>10) for gene-disease association.
Sources: Literature
Early-onset Dementia v0.60 CST3 Bryony Thompson Marked gene: CST3 as ready
Early-onset Dementia v0.60 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Early-onset Dementia v0.60 GSN Bryony Thompson Marked gene: GSN as ready
Early-onset Dementia v0.60 GSN Bryony Thompson Gene: gsn has been classified as Red List (Low Evidence).
Early-onset Dementia v0.60 GSN Bryony Thompson gene: GSN was added
gene: GSN was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type MIM#105120
Review for gene: GSN was set to RED
Added comment: I could not find any evidence of a gene-disease association with dementia. Hereditary motor and sensory neuropathy is reported as the neurological phenotype.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 MBTPS2 Ain Roesley gene: MBTPS2 was added
gene: MBTPS2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to Olmsted syndrome, X-linked (MIM#300918); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); IFAP syndrome with or without BRESHECK syndrome (MIM#308205)
Penetrance for gene: MBTPS2 were set to unknown
Review for gene: MBTPS2 was set to GREEN
Added comment: Palmoplantar keratoderma is a feature of keratosis follicularis spinulosa decalvans and Olmsted syndrome.

Erythroderma is a feature of IFAP syndrome with or without BRESHECK syndrome.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Marked gene: CSTA as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Classified gene: CSTA as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.88 CSTA Zornitza Stark Gene: csta has been classified as Green List (High Evidence).
Early-onset Dementia v0.59 CST3 Bryony Thompson Classified gene: CST3 as Green List (high evidence)
Early-onset Dementia v0.59 CST3 Bryony Thompson Gene: cst3 has been classified as Green List (High Evidence).
Early-onset Dementia v0.58 CST3 Bryony Thompson changed review comment from: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele geneotype, combined OR 1.6.
Sources: Expert list; to: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele genotype, combined OR 1.6.
Sources: Expert list
Early-onset Dementia v0.58 CST3 Bryony Thompson changed review comment from: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but the combined OR for the homozygote (rs1064039) minor allele is modest risk at 1.6.
Sources: Expert list; to: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but there is modest risk associated with the homozygote (rs1064039) minor allele geneotype, combined OR 1.6.
Sources: Expert list
Early-onset Dementia v0.58 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 22435454; 8866434; 2602413; 8108423
Phenotypes for gene: CST3 were set to Cerebral amyloid angiopathy MIM#105150
Mode of pathogenicity for gene: CST3 was set to Other
Review for gene: CST3 was set to GREEN
Added comment: A single missense variant L68Q causes Icelandic-type CAA, where brain haemorrhage is main presenting feature of the condition. Progressive multi-infarct dementia has been reported in at least 17 cases. Dementia has been reported as the presenting feature in 2 cases from the same family. The gene has also been reported as an Alzheimer's disease susceptibility loci, but the combined OR for the homozygote (rs1064039) minor allele is modest risk at 1.6.
Sources: Expert list
Mendeliome v0.3839 SOS2 Chern Lim reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26173643; Phenotypes: Noonan syndrome 9, MIM#616559, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio edited their review of gene: CSTA: Changed publications: 23534700, 21944047, 25400170, 12890214
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio edited their review of gene: CSTA: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 4 #607936
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio changed review comment from: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features.
Sources: Literature; to: Associated with peeling skin syndrome (at least 4 families). Hyperkeratosis and PPK are features.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CSTA Paul De Fazio gene: CSTA was added
gene: CSTA was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 23534700; 21944047; 25400170
Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 #607936
gene: CSTA was marked as current diagnostic
Added comment: Associated with peeling skin syndrome. Hyperkeratosis and PPK are features.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Marked gene: CERS3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Classified gene: CERS3 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.87 CERS3 Zornitza Stark Gene: cers3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant 302960; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Marked gene: EBP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Classified gene: EBP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.86 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Classified gene: NIPAL4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.85 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Marked gene: NSDHL as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Classified gene: NSDHL as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.84 NSDHL Zornitza Stark Gene: nsdhl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Marked gene: CDSN as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Classified gene: CDSN as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.83 CDSN Zornitza Stark Gene: cdsn has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Marked gene: PKP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Classified gene: PKP1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.82 PKP1 Zornitza Stark Gene: pkp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Marked gene: PNPLA1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Classified gene: PNPLA1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.81 PNPLA1 Zornitza Stark Gene: pnpla1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Marked gene: POMP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Classified gene: POMP as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.80 POMP Zornitza Stark Gene: pomp has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Marked gene: SDR9C7 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Classified gene: SDR9C7 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.79 SDR9C7 Zornitza Stark Gene: sdr9c7 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.45 TAOK1 Zornitza Stark Marked gene: TAOK1 as ready
Macrocephaly_Megalencephaly v0.45 TAOK1 Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.45 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from to Intellectual disability; macrocephaly
Macrocephaly_Megalencephaly v0.44 TAOK1 Zornitza Stark Publications for gene: TAOK1 were set to
Macrocephaly_Megalencephaly v0.43 TAOK1 Zornitza Stark Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.78 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Classified gene: SPINK5 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.77 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CERS3 Paul De Fazio changed review comment from: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1).
Sources: Literature; to: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1, PMID: 30578701 1 patient in Figure 1, PMID: 23754960 1 patient).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CERS3 Paul De Fazio gene: CERS3 was added
gene: CERS3 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS3 were set to 23754960; 30578701; 23754960
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9 (MIM#615023)
Review for gene: CERS3 was set to GREEN
gene: CERS3 was marked as current diagnostic
Added comment: Associated mainly with ichthyosis but palmoplantar keratoderma and hyperkeratosis are both reported (e.g. PMID:23754960 1 patient in Figure 1 and PMID: 30578701 1 patient in Figure 1).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 EBP Belinda Chong gene: EBP was added
gene: EBP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 10391218; 11038443; 12509714
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant 302960
Added comment: Multiple unrelated individuals with mutations in the EBP (PMID:10391218, 11038443; 12509714)

PMID: 7363504
Manzke et al. (1980) reported 3 affected girls. Two of their mothers showed a mild form of cicatricial alopecia. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life.

PMID: 12509714
Affected females had typical skin manifestations an all but 1 had skeletal dysplasia. Herman et al. (2002) concluded that plasma sterol analysis was a highly specific and sensitive indicator of the presence of an EBP mutation in females with suspected CDPX2, including a clinically unaffected mother of a sporadic case. No clear genotype/phenotype correlations were ascertained, probably because phenotypic expression is influenced substantially by the pattern of X-inactivation in an affected female.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 NIPAL4 Ain Roesley gene: NIPAL4 was added
gene: NIPAL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIPAL4 were set to 30578701
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 (MIM#612281)
Penetrance for gene: NIPAL4 were set to unknown
Review for gene: NIPAL4 was set to GREEN
Added comment: PMID: 30578701;
- 5 families all consanguineous with 3 unique variants
- 4 have erythroderma and all 5 have PPK
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 NSDHL Ain Roesley gene: NSDHL was added
gene: NSDHL was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 15689440; 26459993
Phenotypes for gene: NSDHL were set to CHILD syndrome (MIM#308050)
Penetrance for gene: NSDHL were set to unknown
Review for gene: NSDHL was set to GREEN
Added comment: CHILD = Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

PMID: 15689440;26459993; GeneReviews
- Over 20 variants reported.

*affected females. Males are usually lethal however, few males reported including 1 mosaic (GeneReviews)
*expressivity is highly variable; in affected females, CHILD syndrome may manifest as minor skin changes only. (GeneReviews)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CDSN Paul De Fazio edited their review of gene: CDSN: Changed rating: GREEN; Changed phenotypes: Peeling skin syndrome 1 MIM#270300
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 CDSN Paul De Fazio gene: CDSN was added
gene: CDSN was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDSN were set to 23957618; 22146835; 20691404; 21191406
Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 MIM#270300
gene: CDSN was marked as current diagnostic
Added comment: Associated with peeling skin syndrome, affected individuals have skin peeling, hyperkeratosis and erythema.

At least 4 unrelated individuals reported, all with LoF variants.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 PKP1 Ain Roesley gene: PKP1 was added
gene: PKP1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PKP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PKP1 were set to 32248567
Phenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome (MIM#604536)
Penetrance for gene: PKP1 were set to unknown
Review for gene: PKP1 was set to GREEN
Added comment: PMID: 32248567
- 16 out of 18 probands presented with PPK
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2843 TAOK1 Zornitza Stark Marked gene: TAOK1 as ready
Intellectual disability syndromic and non-syndromic v0.2843 TAOK1 Zornitza Stark Gene: taok1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2843 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from to Intellectual disability; hypotonia; macrocephaly
Intellectual disability syndromic and non-syndromic v0.2842 TAOK1 Zornitza Stark Publications for gene: TAOK1 were set to
Intellectual disability syndromic and non-syndromic v0.2841 TAOK1 Zornitza Stark Mode of inheritance for gene: TAOK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 PNPLA1 Ain Roesley gene: PNPLA1 was added
gene: PNPLA1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA1 were set to 30578701
Phenotypes for gene: PNPLA1 were set to Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)
Penetrance for gene: PNPLA1 were set to unknown
Review for gene: PNPLA1 was set to GREEN
Added comment: PMID: 30578701;
- 19 consanguineous families with 13 unique variants
- all had erythroderma, 12 had PPK
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 POMP Ain Roesley gene: POMP was added
gene: POMP was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 20226437; 27503413; 29315485
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)
Penetrance for gene: POMP were set to unknown
Review for gene: POMP was set to GREEN
Added comment: Also known as KLICK syndrome, it is a skin disorder characterized by palmoplantar
keratoderma, linear hyperkeratotic papules, ichthyosiform scaling, circular constrictions around the fingers, and numerous papules distributed linearly in the arm folds and on the wrists.

PMID: 20226437;
Cohort of 12 KLICK patients but only 4 unrelated probands were sequenced (total of 6: 3 siblings + 3 unrelated)

PMID: 27503413;
1x proband from consanguineous parents

PMID: 29315485;
1x proband

*All reported patients have the same homozygous 1bp deletion in the 5'UTR of POMP
c.-95del
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SDR9C7 Ain Roesley gene: SDR9C7 was added
gene: SDR9C7 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDR9C7 were set to 30578701; 31633189
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 (MIM#617574)
Penetrance for gene: SDR9C7 were set to unknown
Review for gene: SDR9C7 was set to GREEN
Added comment: PMID: 30578701;
3 unrelated patients from consanguineous families with congenital ichthyosiform erythroderma

PMID: 31633189;
All 3 reported patients had mild PPK including 1x born with scaly skin with erythroderma at birth
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2840 TAOK1 Sue White commented on gene: TAOK1: Monoallelic de novo variants reported in 8 individuals with nonspecific phenotype of intellectual disability and hypotonia. Most were LOF, 2 missense. 3 had macrocephaly.
Intellectual disability syndromic and non-syndromic v0.2840 TAOK1 Sue White reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.42 TAOK1 Sue White reviewed gene: TAOK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31230721; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 ELOVL4 Naomi Baker gene: ELOVL4 was added
gene: ELOVL4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELOVL4 were set to PMID:24566826; 26258735; 30065956.
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34, MIM#133190
Review for gene: ELOVL4 was set to GREEN
Added comment: In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SPINK5 Ain Roesley changed review comment from: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature; to: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 SPINK5 Ain Roesley gene: SPINK5 was added
gene: SPINK5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINK5 were set to 11841556
Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500)
Penetrance for gene: SPINK5 were set to unknown
Review for gene: SPINK5 was set to GREEN
Added comment: Ichthyosiform erythroderma is a feature of Netherton syndrome

PMID: 11841556;
- cohort of 21 families with 26 affecteds (7 consanguineous)
- all except 1 presented with scaly erythroderma at birth
Sources: Literature
Mendeliome v0.3839 NCKAP1L Zornitza Stark Phenotypes for gene: NCKAP1L were changed from Immunodeficiency to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982
Mendeliome v0.3838 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency 72 with autoinflammation, MIM# 618982
Mendeliome v0.3838 NCKAP1L Zornitza Stark reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 72 with autoinflammation 618982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.61 NCKAP1L Zornitza Stark Phenotypes for gene: NCKAP1L were changed from Immunodeficiency; Immune dysregulation to Immunodeficiency; Immune dysregulation; Immunodeficiency 72 with autoinflammation, MIM# 618982
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation, MIM# 618982
Disorders of immune dysregulation v0.60 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed phenotypes: Immunodeficiency, Immune dysregulation, Immunodeficiency 72 with autoinflammation 618982
Intellectual disability syndromic and non-syndromic v0.2840 RAI1 Zornitza Stark Marked gene: RAI1 as ready
Intellectual disability syndromic and non-syndromic v0.2840 RAI1 Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.2840 RAI1 Zornitza Stark Phenotypes for gene: RAI1 were changed from to Smith-Magenis syndrome (MIM#182290)
Intellectual disability syndromic and non-syndromic v0.2839 RAI1 Zornitza Stark Publications for gene: RAI1 were set to
Intellectual disability syndromic and non-syndromic v0.2838 RAI1 Zornitza Stark Mode of inheritance for gene: RAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.2837 RAI1 Zornitza Stark reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11404004, 12652298, 15788730; Phenotypes: Smith-Magenis syndrome (MIM#182290); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3838 RAI1 Zornitza Stark Marked gene: RAI1 as ready
Mendeliome v0.3838 RAI1 Zornitza Stark Gene: rai1 has been classified as Green List (High Evidence).
Mendeliome v0.3838 RAI1 Zornitza Stark Phenotypes for gene: RAI1 were changed from to Smith-Magenis syndrome (MIM#182290)
Mendeliome v0.3837 RAI1 Zornitza Stark Publications for gene: RAI1 were set to
Mendeliome v0.3836 RAI1 Zornitza Stark Mode of inheritance for gene: RAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3835 RAI1 Kristin Rigbye reviewed gene: RAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11404004, 12652298, 15788730; Phenotypes: Smith-Magenis syndrome (MIM#182290), AD, IC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3835 TAF1C Zornitza Stark Marked gene: TAF1C as ready
Mendeliome v0.3835 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3835 TAF1C Zornitza Stark Classified gene: TAF1C as Amber List (moderate evidence)
Mendeliome v0.3835 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3834 TAF1C Zornitza Stark gene: TAF1C was added
gene: TAF1C was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1C were set to 32779182
Phenotypes for gene: TAF1C were set to Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology
Review for gene: TAF1C was set to AMBER
Added comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants. Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual). Following a normal CMA, exome in the first case revealed a homozygous missense SNV (NM_005679.3:c.1165C>T / p.Arg389Cys) supported by in silico predictions. mRNA and protein levels were substantially reduced in fibroblasts from this subject. Only the patient and parents were tested for the variant but not 3 unaffected sibs (fig1). The second individual was homozygous for another missense variant (p.Arg405Cys) also supported by in silico predictions. The girl was the single affected person within the family with an unaffected sib and parents heterozygous for the variant. Several other unaffected relatives in the extended pedigree were either carriers for this variant or homozygous for the wt allele. TAF1C encodes the TATA-box binding protein associated factor (TAF) RNA polymerase I subunit. RNA polymerase I (Pol I) transcribes genes to produce rRNA. For Pol I to initiate transcription, two transcription factors are required : UBF (upstream binding factor encoded by UBTF) and SL1 (selectivity factor 1). The latter is formed by TBP (TATA-binding protein) and 3 Pol I-specific TBP-associated factors (TAFs). A recurrent de novo missense variant in UBTF (encoding the other Pol I transcription factor) causes a disorder with highly similar features. The specific variant acts through a gain-of-function mechanism (and not by LoF which appears to apply for TAF1C based on expression data). The authors hypothesize that altered Pol I activity and resulting ribosomal stress could cause the microcephaly and leukodystrophy (both reported in 1 - the same - individual).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.2837 TAF1C Zornitza Stark Classified gene: TAF1C as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.2837 TAF1C Zornitza Stark Gene: taf1c has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Classified gene: AP1S1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.76 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.96 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Ichthyosis and Porokeratosis v0.96 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.96 AP1S1 Zornitza Stark Classified gene: AP1S1 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.96 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Marked gene: STS as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Added comment: Comment when marking as ready: Palms are more typically spared in STS-associated ichthyosis.
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Marked gene: STS as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Classified gene: STS as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.75 STS Zornitza Stark Gene: sts has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Classified gene: ABHD5 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.74 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.2836 TAF1C Konstantinos Varvagiannis gene: TAF1C was added
gene: TAF1C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1C were set to 32779182
Phenotypes for gene: TAF1C were set to Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology
Penetrance for gene: TAF1C were set to Complete
Review for gene: TAF1C was set to AMBER
Added comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants.

Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual).

Following a normal CMA, exome in the first case revealed a homozygous missense SNV (NM_005679.3:c.1165C>T / p.Arg389Cys) supported by in silico predictions. mRNA and protein levels were substantially reduced in fibroblasts from this subject. Only the patient and parents were tested for the variant but not 3 unaffected sibs (fig1).

The second individual was homozygous for another missense variant (p.Arg405Cys) also supported by in silico predictions. The girl was the single affected person within the family with an unaffected sib and parents heterozygous for the variant. Several other unaffected relatives in the extended pedigree were either carriers for this variant or homozygous for the wt allele.

TAF1C encodes the TATA-box binding protein associated factor (TAF) RNA polymerase I subunit.

RNA polymerase I (Pol I) transcribes genes to produce rRNA. For Pol I to initiate transcription, two transcription factors are required : UBF (upstream binding factor encoded by UBTF) and SL1 (selectivity factor 1). The latter is formed by TBP (TATA-binding protein) and 3 Pol I-specific TBP-associated factors (TAFs).

A recurrent de novo missense variant in UBTF (encoding the other Pol I transcription factor) causes a disorder with highly similar features. The specific variant acts through a gain-of-function mechanism (and not by LoF which appears to apply for TAF1C based on expression data).

The authors hypothesize that altered Pol I activity and resulting ribosomal stress could cause the microcephaly and leukodystrophy (both reported in 1 - the same - individual).

As a result, TAF1C may be considered for inclusion in the ID panel with amber rating pending further evidence.
Sources: Literature
Mendeliome v0.3833 KALRN Zornitza Stark Marked gene: KALRN as ready
Mendeliome v0.3833 KALRN Zornitza Stark Gene: kalrn has been classified as Red List (Low Evidence).
Mendeliome v0.3833 KALRN Zornitza Stark Phenotypes for gene: KALRN were changed from to Susceptibility to coronary heart disease; Intellectual disability
Mendeliome v0.3832 KALRN Zornitza Stark Publications for gene: KALRN were set to
Mendeliome v0.3831 KALRN Zornitza Stark Mode of inheritance for gene: KALRN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3830 KALRN Zornitza Stark Classified gene: KALRN as Red List (low evidence)
Mendeliome v0.3830 KALRN Zornitza Stark Gene: kalrn has been classified as Red List (Low Evidence).
Mendeliome v0.3829 KALRN Zornitza Stark reviewed gene: KALRN: Rating: RED; Mode of pathogenicity: None; Publications: 17357071, 27421267, 30675382, 32580138; Phenotypes: Susceptibility to coronary heart disease, Intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.194 PTPRJ Zornitza Stark Marked gene: PTPRJ as ready
Bleeding and Platelet Disorders v0.194 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Added comment: Comment when marking as ready: Agree unclear if PKK is a consistent feature. Gene is Green on Ichthyosis panel.
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.73 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.72 SULT2B1 Zornitza Stark Classified gene: SULT2B1 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.72 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Marked gene: KRT9 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Gene: krt9 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.71 KRT9 Zornitza Stark Phenotypes for gene: KRT9 were changed from to Palmoplantar keratoderma, epidermolytic (MIM#144200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.70 KRT9 Zornitza Stark Publications for gene: KRT9 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.69 KRT9 Zornitza Stark Mode of inheritance for gene: KRT9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Marked gene: TAT as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.68 TAT Zornitza Stark Phenotypes for gene: TAT were changed from to Tyrosinemia, type II (MIM#276600)
Palmoplantar Keratoderma and Erythrokeratoderma v0.67 TAT Zornitza Stark Publications for gene: TAT were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.66 TAT Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.95 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Ichthyosis and Porokeratosis v0.95 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.95 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Ichthyosis and Porokeratosis v0.94 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Ichthyosis and Porokeratosis v0.93 TGM1 Zornitza Stark Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and Porokeratosis v0.92 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1 (MIM#242300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Classified gene: TGM1 as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.65 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.92 MSMO1 Zornitza Stark Marked gene: MSMO1 as ready
Ichthyosis and Porokeratosis v0.92 MSMO1 Zornitza Stark Added comment: Comment when marking as ready: Possible phenotypic overlap but not clear.
Ichthyosis and Porokeratosis v0.92 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Ichthyosis and Porokeratosis v0.92 MSMO1 Zornitza Stark Classified gene: MSMO1 as Amber List (moderate evidence)
Ichthyosis and Porokeratosis v0.92 MSMO1 Zornitza Stark Gene: msmo1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.64 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 VPS33B Zornitza Stark Tag founder tag was added to gene: VPS33B.
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 VPS33B Zornitza Stark reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017832, 30561130; Phenotypes: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3829 KRT6C Zornitza Stark Marked gene: KRT6C as ready
Mendeliome v0.3829 KRT6C Zornitza Stark Gene: krt6c has been classified as Green List (High Evidence).
Mendeliome v0.3829 KRT6C Zornitza Stark Phenotypes for gene: KRT6C were changed from to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Mendeliome v0.3828 KRT6C Zornitza Stark Publications for gene: KRT6C were set to
Mendeliome v0.3827 KRT6C Zornitza Stark Mode of inheritance for gene: KRT6C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3826 KRT6C Zornitza Stark reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Marked gene: KRT6C as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Gene: krt6c has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.63 KRT6C Zornitza Stark Phenotypes for gene: KRT6C were changed from to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Palmoplantar Keratoderma and Erythrokeratoderma v0.62 KRT6C Zornitza Stark Publications for gene: KRT6C were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.61 KRT6C Zornitza Stark Mode of inheritance for gene: KRT6C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.91 PIGL Zornitza Stark Marked gene: PIGL as ready
Ichthyosis and Porokeratosis v0.91 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.91 PIGL Zornitza Stark Classified gene: PIGL as Green List (high evidence)
Ichthyosis and Porokeratosis v0.91 PIGL Zornitza Stark Gene: pigl has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Marked gene: SASH1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Classified gene: SASH1 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.60 SASH1 Zornitza Stark Gene: sash1 has been classified as Red List (Low Evidence).
Mendeliome v0.3826 KRT6B Zornitza Stark Marked gene: KRT6B as ready
Mendeliome v0.3826 KRT6B Zornitza Stark Gene: krt6b has been classified as Green List (High Evidence).
Mendeliome v0.3826 KRT6B Zornitza Stark Phenotypes for gene: KRT6B were changed from to Pachyonychia congenita 4 (MIM#615728)
Mendeliome v0.3825 KRT6B Zornitza Stark Publications for gene: KRT6B were set to
Mendeliome v0.3824 KRT6B Zornitza Stark Mode of inheritance for gene: KRT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3823 KRT6B Zornitza Stark reviewed gene: KRT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 4 (MIM#615728); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Marked gene: KRT6B as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Gene: krt6b has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.59 KRT6B Zornitza Stark Phenotypes for gene: KRT6B were changed from to Pachyonychia congenita 4 (MIM#615728)
Palmoplantar Keratoderma and Erythrokeratoderma v0.58 KRT6B Zornitza Stark Publications for gene: KRT6B were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.57 KRT6B Zornitza Stark Mode of inheritance for gene: KRT6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.90 AP1S1 Paul De Fazio changed review comment from: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic.
Sources: Literature; to: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 AP1S1 Paul De Fazio gene: AP1S1 was added
gene: AP1S1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)
Review for gene: AP1S1 was set to GREEN
gene: AP1S1 was marked as current diagnostic
Added comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Patients all present with hyperkeratosis.
Sources: Literature
Ichthyosis and Porokeratosis v0.90 AP1S1 Paul De Fazio gene: AP1S1 was added
gene: AP1S1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1S1 were set to 19057675; 23423674; 30244301
Phenotypes for gene: AP1S1 were set to MEDNIK syndrome (MIM#609313)
Review for gene: AP1S1 was set to GREEN
gene: AP1S1 was marked as current diagnostic
Added comment: At least 6 unrelated individuals reported from different countries, all share one of two variants (both canonical splice variants, both uncommon/rare in gnomAD).

MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. This syndrome was previously called Erythrokeratodermia Variabilis type 3. Ichthyosis is considered characteristic.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 STS Ain Roesley gene: STS was added
gene: STS was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: STS were set to PMID: 29672931
Phenotypes for gene: STS were set to Ichthyosis, X-linked (MIM#308100)
Penetrance for gene: STS were set to unknown
Review for gene: STS was set to AMBER
Added comment: PMID: 29672931;
- cohort of 35 Italian patients
- 3 patients with mild palmoplantar keratoderma at birth - unclear what their variants are
- 27x with complete STS gene deletion
- 1x partial deletion leading to loss of exon 7
- 7x (including 3 pairs of siblings) had missense variants

* STS patients usually present with brownish thickened scales
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 ABHD5 Paul De Fazio changed review comment from: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature; to: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 ABHD5 Paul De Fazio gene: ABHD5 was added
gene: ABHD5 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 16181472
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome (MIM#275630)
Review for gene: ABHD5 was set to RED
gene: ABHD5 was marked as current diagnostic
Added comment: Association with Chanarin-Dorfman syndrome (CDS) is well established.

The skin phenotype associated with CDS is ]ichthyosiform erythroderma, but one case of erythrokeratoderma variabilis-like CDS, presenting patches of normal skin alternating with erythematous scaly patches, has been reported in the literature (PMID: 16181472). I have added this as a Red gene to this panel due to this report.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 SULT2B1 Ain Roesley gene: SULT2B1 was added
gene: SULT2B1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SULT2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SULT2B1 were set to 28575648
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 (MIM#617571)
Penetrance for gene: SULT2B1 were set to unknown
Review for gene: SULT2B1 was set to AMBER
Added comment: PMID: 28575648;
- 6 affecteds in 3 families (including 2 consanguineous)
- In family 1: 1x presented hyperkeratosis and generalized desquamation with large, dark scales typical of the lamellar form of ARCI
- in family 2: 1x presented with hyperkeratosis and erythema.
- in family 3: 2x showed a generalized very dry, scaly skin with severe itching and erythema at birth.
> 2x missense, 1x PTV and 1x splice

PMID: 30578701;
- 2 families reported, both homozygous for a missense
- both presented with palmoplantar keratoderma and only 1 reported with erythroderma
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT9 Paul De Fazio reviewed gene: KRT9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 29044727, 7512862; Phenotypes: Palmoplantar keratoderma, epidermolytic (MIM#144200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 TAT Ain Roesley reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 31799120, 21145993, 18945316; Phenotypes: Tyrosinemia, type II (MIM#276600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 TGM1 Ain Roesley gene: TGM1 was added
gene: TGM1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGM1 were set to 19890349; 24261627; 30302839
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1 (MIM#242300)
Penetrance for gene: TGM1 were set to unknown
Review for gene: TGM1 was set to GREEN
Added comment: PMID: 19890349;
- 1x patient with mild palmoplantar keratoderma in her fissures
> cHet for c.877-2A>G and p.(Arg307Gly)

PMID: 24261627;
- 11x Ecuadorian patients
- All showed ectropion, large, thick, dark, plate-like scales, palmoplantar keratoderma, and alopecia
> both missense and PTVs reported

PMID: 30302839;
- 1x Japanese man with severe lamellar ichthyosis
- his other clinical findings include palmoplantar keratoderma
> cHet for 2 missense
Sources: Literature
Ichthyosis and Porokeratosis v0.90 MSMO1 Paul De Fazio changed review comment from: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.
Sources: Literature; to: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.

There also doesn't appear to be anything published more recently.
Sources: Literature
Ichthyosis and Porokeratosis v0.90 MSMO1 Paul De Fazio gene: MSMO1 was added
gene: MSMO1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 24144731; 21285510
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis (MIM#616834)
Review for gene: MSMO1 was set to AMBER
gene: MSMO1 was marked as current diagnostic
Added comment: Ichthyosiform erythroderma (PMID: 21285510)/psoriasiform dermatitis seems to be a feature of the syndrome associated with this gene. 3 unrelated families described with biallelic variants in this gene but only 2 of them had a marked skin phenotype (the third had 'dry skin').

Not sure if psoriasiform dermatitis fits on this panel. The index patient was originally described in PMID: 21285510 to have ichthyosiform erythroderma but in a followup paper she was described with psoriasiform dermatitis.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 VPS33B Ain Roesley gene: VPS33B was added
gene: VPS33B was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 28017832; 30561130
Phenotypes for gene: VPS33B were set to Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome
Penetrance for gene: VPS33B were set to unknown
Review for gene: VPS33B was set to AMBER
Added comment: Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome is a rare multisystem disorder caused by biallelic mutations in VPS33B

PMID: 28017832;
- 3x Austrian patients with assumed distant consanguinity
- severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness
> 2x homozygous for p.(Gly131Glu), whereas 1x patient cHet for p.(Gly131Glu) and the splice site mutation c.240-1G>C previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome

PMID: 30561130;
- 1x patient with ichthyosis, palmoplantar keratosis, hearing loss, intellectual disability, unilateral hip dislocation, microcephaly and short stature
> cHet for p.(Arg481Glyfs*11) and p.(Gly131Glu)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT6C Ain Roesley reviewed gene: KRT6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3823 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Mendeliome v0.3823 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Mendeliome v0.3823 KRT2 Zornitza Stark Phenotypes for gene: KRT2 were changed from to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Mendeliome v0.3822 KRT2 Zornitza Stark Publications for gene: KRT2 were set to
Mendeliome v0.3821 KRT2 Zornitza Stark Mode of inheritance for gene: KRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3820 KRT2 Zornitza Stark reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581228, 22612346; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.90 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Ichthyosis and Porokeratosis v0.90 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.90 KRT2 Zornitza Stark Phenotypes for gene: KRT2 were changed from to Superficial epidermolytic ichthyosis (SEI) , MIM#146800
Ichthyosis and Porokeratosis v0.89 KRT2 Zornitza Stark Publications for gene: KRT2 were set to
Ichthyosis and Porokeratosis v0.88 KRT2 Zornitza Stark Mode of inheritance for gene: KRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Marked gene: KRT2 as ready
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Classified gene: KRT2 as Green List (high evidence)
Epidermolysis bullosa v0.45 KRT2 Zornitza Stark Gene: krt2 has been classified as Green List (High Evidence).
Mendeliome v0.3820 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Mendeliome v0.3820 KRT17 Zornitza Stark Gene: krt17 has been classified as Green List (High Evidence).
Mendeliome v0.3820 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2, MIM#167210; Steatocystoma multiplex, MIM# 184500
Mendeliome v0.3819 KRT17 Zornitza Stark Publications for gene: KRT17 were set to
Mendeliome v0.3818 KRT17 Zornitza Stark Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3817 KRT17 Zornitza Stark edited their review of gene: KRT17: Changed phenotypes: Pachyonychia congenita 2, MIM#167210, Steatocystoma multiplex, MIM# 184500
Mendeliome v0.3817 KRT17 Zornitza Stark changed review comment from: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts. PMID: 31823354; - cohort of 815 individuals, 134 patients had variants in KRT17 - approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma. Steatocystoma multiplex is an allelic disorder.
Mendeliome v0.3817 KRT17 Zornitza Stark reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2, MIM#167210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Marked gene: KRT17 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Gene: krt17 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.56 KRT17 Zornitza Stark Phenotypes for gene: KRT17 were changed from to Pachyonychia congenita 2 (MIM#167210)
Palmoplantar Keratoderma and Erythrokeratoderma v0.55 KRT17 Zornitza Stark Publications for gene: KRT17 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.54 KRT17 Zornitza Stark Mode of inheritance for gene: KRT17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3817 SERPINB7 Zornitza Stark Marked gene: SERPINB7 as ready
Mendeliome v0.3817 SERPINB7 Zornitza Stark Gene: serpinb7 has been classified as Green List (High Evidence).
Mendeliome v0.3817 SERPINB7 Zornitza Stark Phenotypes for gene: SERPINB7 were changed from to Palmoplantar keratoderma, Nagashima type (MIM#615598)
Mendeliome v0.3816 SERPINB7 Zornitza Stark Publications for gene: SERPINB7 were set to
Mendeliome v0.3815 SERPINB7 Zornitza Stark Mode of inheritance for gene: SERPINB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3814 SERPINB7 Zornitza Stark Tag founder tag was added to gene: SERPINB7.
Mendeliome v0.3814 SERPINB7 Zornitza Stark reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24773080, 24207119, 24514002, 31706940; Phenotypes: Palmoplantar keratoderma, Nagashima type (MIM#615598); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Marked gene: SERPINB7 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Gene: serpinb7 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.53 SERPINB7 Zornitza Stark Phenotypes for gene: SERPINB7 were changed from to Palmoplantar keratoderma, Nagashima type (MIM#615598)
Palmoplantar Keratoderma and Erythrokeratoderma v0.52 SERPINB7 Zornitza Stark Publications for gene: SERPINB7 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.51 SERPINB7 Zornitza Stark Mode of inheritance for gene: SERPINB7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3814 SLURP1 Zornitza Stark Marked gene: SLURP1 as ready
Mendeliome v0.3814 SLURP1 Zornitza Stark Gene: slurp1 has been classified as Green List (High Evidence).
Mendeliome v0.3814 SLURP1 Zornitza Stark Phenotypes for gene: SLURP1 were changed from to Meleda disease (MIM#248300)
Mendeliome v0.3813 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to
Mendeliome v0.3812 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3811 SLURP1 Zornitza Stark changed review comment from: Over 10 families reported with Mal de Meleda, a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities.; to: Over 10 families reported with Mal de Meleda, a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities. Note single report of manifesting carriers.
Mendeliome v0.3811 SLURP1 Zornitza Stark edited their review of gene: SLURP1: Changed publications: 14674887, 32157724, 12483299, 14756676; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.50 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to 14674887; 32157724; 12483299
Palmoplantar Keratoderma and Erythrokeratoderma v0.49 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14756676; Phenotypes: Meleda disease, MIM#248300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3811 SLURP1 Zornitza Stark reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14674887, 32157724, 12483299; Phenotypes: Meleda disease (MIM#248300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Marked gene: SLURP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Gene: slurp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.48 SLURP1 Zornitza Stark Phenotypes for gene: SLURP1 were changed from to Meleda disease (MIM#248300)
Palmoplantar Keratoderma and Erythrokeratoderma v0.47 SLURP1 Zornitza Stark Publications for gene: SLURP1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.46 SLURP1 Zornitza Stark Mode of inheritance for gene: SLURP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.115 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
Proteinuria v0.115 ACTN4 Zornitza Stark Gene: actn4 has been classified as Green List (High Evidence).
Proteinuria v0.115 ACTN4 Zornitza Stark Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1, MIM#603278
Proteinuria v0.114 ACTN4 Zornitza Stark Publications for gene: ACTN4 were set to
Proteinuria v0.113 ACTN4 Zornitza Stark Mode of inheritance for gene: ACTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.112 ACTN4 Zornitza Stark reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740551, 22351778, 10700177, 26301083; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3811 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
Mendeliome v0.3811 ACTN4 Zornitza Stark Gene: actn4 has been classified as Green List (High Evidence).
Mendeliome v0.3811 ACTN4 Zornitza Stark Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1, MIM#603278
Ichthyosis and Porokeratosis v0.87 PIGL Paul De Fazio gene: PIGL was added
gene: PIGL was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671; 31535386
Phenotypes for gene: PIGL were set to CHIME syndrome (MIM#280000)
Review for gene: PIGL was set to GREEN
gene: PIGL was marked as current diagnostic
Added comment: Early onset migratory ichthyosiform dermatosis is characteristic of this syndrome (the 'I' in 'CHIME'). Also called Zunich neuroectodermal syndrome.

In 6 previously reported unrelated individuals with Zunich neuroectodermal syndrome, Ng et al. (PMID 22444671) identified compound heterozygosity for 2 mutations in the PIGL gene. None of the variants have homozygotes in gnomAD.

A homozygous variant has also been reported in affected individuals from one family more recently (e.g. PMID 31535386).
Sources: Literature
Mendeliome v0.3810 ACTN4 Zornitza Stark Publications for gene: ACTN4 were set to
Mendeliome v0.3809 ACTN4 Zornitza Stark Mode of pathogenicity for gene: ACTN4 was changed from to Other
Mendeliome v0.3808 ACTN4 Zornitza Stark Mode of inheritance for gene: ACTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SASH1 Paul De Fazio gene: SASH1 was added
gene: SASH1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SASH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASH1 were set to 25315659
Phenotypes for gene: SASH1 were set to Dyschromatosis universalis hereditaria 1 (MIM#127500)
Review for gene: SASH1 was set to RED
gene: SASH1 was marked as current diagnostic
Added comment: Associated with Dyschromatosis universalis hereditaria 1 (MIM#127500). One family reported with biallelic variants in SASH1 who had palmoplantar keratoderma (among other phenotypes), but this is the only report of palmoplantar keratoderma associated with variants in this gene that I can find.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT6B Ain Roesley reviewed gene: KRT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 4 (MIM#615728); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley changed review comment from: Also known as Jackson-Lawler Syndrome, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma; to: Also known as Jackson-Lawler type, the main clinical features are nail dystrophy, palmoplantar keratoderma, oral leucokeratosis and cysts.

PMID: 31823354;
- cohort of 815 individuals, 134 patients had variants in KRT17
- approx 61.8% presented with palmar keratoderma and approx 82.8% with plantar keratoderma
Ichthyosis and Porokeratosis v0.87 KRT2 Ain Roesley reviewed gene: KRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581228, 22612346; Phenotypes: Superficial epidermolytic ichthyosis (SEI) (MIM#146800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa v0.44 KRT2 Ain Roesley gene: KRT2 was added
gene: KRT2 was added to Epidermolysis bullosa. Sources: Literature
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT2 were set to 26581228; 22612346
Phenotypes for gene: KRT2 were set to Superficial epidermolytic ichthyosis (SEI) (MIM#146800)
Penetrance for gene: KRT2 were set to unknown
Review for gene: KRT2 was set to GREEN
Added comment: Superficial epidermolytic ichthyosis (SEI), previously known as Ichthyosis bullosa of Siemens.
Clinical findings are similar to those of epidermolytic ichthyosis, but the phenotype is generally milder and can be quite variable in severity.
SEI is clinically characterized by mild epidermal hyperkeratosis over flexural areas, blister formation, and the development of superficially denuded areas of hyperkeratotic skin. Symptoms usually improve with age.

PMID: 26581228;
- 7 affecteds in 4 families
> all missense variants

PMID: 22612346;
- 2 families
> missense variants
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KRT17 Ain Roesley reviewed gene: KRT17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31823354; Phenotypes: Pachyonychia congenita 2 (MIM#167210); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Marked gene: WAS as ready
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Classified gene: WAS as Green List (high evidence)
Bleeding and Platelet Disorders v0.194 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.193 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Review for gene: WAS was set to GREEN
Added comment: Well established gene-disease association. Thrombocytopaenia is a key feature of Wiskott-Aldrich syndrome and isolated thrombocytopaenia also described with WAS variants.
Sources: Expert list
Mendeliome v0.3807 VKORC1 Zornitza Stark Mode of inheritance for gene: VKORC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.3806 VKORC1 Zornitza Stark reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14765194, 21900891, 28198005; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473, Warfarin resistance, MIM# 122700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Classified gene: VKORC1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.192 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.191 VKORC1 Zornitza Stark gene: VKORC1 was added
gene: VKORC1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 14765194
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473
Review for gene: VKORC1 was set to GREEN
Added comment: Severe presentation with intracranial haemorrhage in first few weeks of life reported with bi-allelic variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Classified gene: VIPAS39 as Green List (high evidence)
Bleeding and Platelet Disorders v0.190 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.189 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Review for gene: VIPAS39 was set to GREEN
Added comment: A defect in platelet alpha-granule biogenesis is a key feature of the syndrome.
Sources: Expert list
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Classified gene: VPS33B as Green List (high evidence)
Bleeding and Platelet Disorders v0.188 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.187 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 26399659; 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Review for gene: VPS33B was set to GREEN
Added comment: Reports of life-threatening haemorrhage in the context of biopsies in ARC syndrome patients, and experimental data supporting a role of VPS33B in platelet activation.
Sources: Expert list
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Classified gene: TUBB1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.186 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.185 TUBB1 Zornitza Stark gene: TUBB1 was added
gene: TUBB1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB1 were set to 32757236; 31565851; 29333906; 18849486
Phenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112
Review for gene: TUBB1 was set to GREEN
Added comment: Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SERPINB7 Paul De Fazio reviewed gene: SERPINB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24773080, 24207119, 24514002, 31706940; Phenotypes: Palmoplantar keratoderma, Nagashima type (MIM#615598); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio edited their review of gene: SLURP1: Changed publications: 14674887, 32157724, 12483299
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio changed review comment from: Association with Meleda disease is well supported. Via OMIM: "Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities."; to: Association with Meleda disease is well supported (>10 families). Via OMIM: "Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities."
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 SLURP1 Paul De Fazio reviewed gene: SLURP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14674887, 32157724; Phenotypes: Meleda disease (MIM#248300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.3806 ACTN4 Elena Savva reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26740551, 22351778, 10700177, 26301083; Phenotypes: Glomerulosclerosis, focal segmental, 1, 603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.3806 TPM4 Zornitza Stark Marked gene: TPM4 as ready
Mendeliome v0.3806 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Mendeliome v0.3806 TPM4 Zornitza Stark Classified gene: TPM4 as Green List (high evidence)
Mendeliome v0.3806 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Mendeliome v0.3805 TPM4 Zornitza Stark gene: TPM4 was added
gene: TPM4 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM4 were set to 28134622; 31249973; 21153663
Phenotypes for gene: TPM4 were set to Macrothrombocytopaenia
Review for gene: TPM4 was set to GREEN
Added comment: Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets.
Sources: Expert list
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Marked gene: TPM4 as ready
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Classified gene: TPM4 as Green List (high evidence)
Bleeding and Platelet Disorders v0.184 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.183 TPM4 Zornitza Stark gene: TPM4 was added
gene: TPM4 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM4 were set to 28134622; 31249973; 21153663
Phenotypes for gene: TPM4 were set to Macrothrombocytopenia
Review for gene: TPM4 was set to GREEN
Added comment: Three families reported in addition to genome-wide association studies in nearly 70,000 individuals which indicate that SNVs in TPM4 exert an effect on the count and volume of platelets.
Sources: Expert list
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Marked gene: TNXB as ready
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Classified gene: TNXB as Green List (high evidence)
Bleeding and Platelet Disorders v0.182 TNXB Zornitza Stark Gene: tnxb has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.181 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408
Review for gene: TNXB was set to GREEN
Added comment: Can present with significant bruising.
Sources: Expert list
Mendeliome v0.3804 THPO Zornitza Stark Marked gene: THPO as ready
Mendeliome v0.3804 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Mendeliome v0.3804 THPO Zornitza Stark Phenotypes for gene: THPO were changed from to Thrombocythemia 1, MIM# 187950
Mendeliome v0.3803 THPO Zornitza Stark Publications for gene: THPO were set to
Mendeliome v0.3802 THPO Zornitza Stark Mode of inheritance for gene: THPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3801 THPO Zornitza Stark reviewed gene: THPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425899, 10583217; Phenotypes: Thrombocythemia 1, MIM# 187950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Marked gene: THPO as ready
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Classified gene: THPO as Green List (high evidence)
Bleeding and Platelet Disorders v0.180 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.179 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 9425899; 10583217
Phenotypes for gene: THPO were set to Thrombocythemia 1, MIM# 187950
Review for gene: THPO was set to GREEN
Added comment: Both thrombotic and bleeding episodes described with this platelet disorder.
Sources: Expert list
Mendeliome v0.3801 THBD Zornitza Stark Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 to {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Bleeding disorder
Mendeliome v0.3800 THBD Zornitza Stark Publications for gene: THBD were set to 29500241; 19625716
Mendeliome v0.3799 THBD Zornitza Stark edited their review of gene: THBD: Added comment: Variants in this gene have also been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.; Changed publications: 29500241, 19625716, 25564403, 32634856; Changed phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926, Bleeding disorder
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Marked gene: THBD as ready
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Classified gene: THBD as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.178 THBD Zornitza Stark Gene: thbd has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.177 THBD Zornitza Stark gene: THBD was added
gene: THBD was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THBD were set to 25564403; 32634856
Phenotypes for gene: THBD were set to Bleeding disorder
Review for gene: THBD was set to AMBER
Added comment: Variants in this gene have been linked to thrombophilia. Two families reported with a bleeding disorder, both variants located in the transmembrane domain.
Sources: Expert list
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Marked gene: TGFBR2 as ready
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Gene: tgfbr2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.176 TGFBR2 Zornitza Stark Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168
Bleeding and Platelet Disorders v0.175 TGFBR2 Zornitza Stark Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.174 TGFBR2 Zornitza Stark reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Marked gene: TGFBR1 as ready
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Gene: tgfbr1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.174 TGFBR1 Zornitza Stark Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192
Bleeding and Platelet Disorders v0.173 TGFBR1 Zornitza Stark Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.172 TGFBR1 Zornitza Stark reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.172 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582
Bleeding and Platelet Disorders v0.171 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.170 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.170 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
Bleeding and Platelet Disorders v0.169 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.168 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3799 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Mendeliome v0.3799 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Mendeliome v0.3799 TBXAS1 Zornitza Stark Phenotypes for gene: TBXAS1 were changed from to Ghosal hematodiaphyseal syndrome, MIM# 231095
Mendeliome v0.3798 TBXAS1 Zornitza Stark Mode of inheritance for gene: TBXAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3797 TBXAS1 Zornitza Stark reviewed gene: TBXAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18264100; Phenotypes: Ghosal hematodiaphyseal syndrome, MIM# 231095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Classified gene: TBXAS1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.168 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.167 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to 18264100
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095
Review for gene: TBXAS1 was set to GREEN
Added comment: Thrombocytopaenia is a feature of this condition.
Sources: Expert list
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Marked gene: STIM1 as ready
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Classified gene: STIM1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.166 STIM1 Zornitza Stark Gene: stim1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.165 STIM1 Zornitza Stark gene: STIM1 was added
gene: STIM1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome, MIM# 185070
Review for gene: STIM1 was set to GREEN
Added comment: Well established gene-disease association, mild bleeding tendency due to platelet dysfunction and thrombocytopaenia.
Sources: Expert list
Mendeliome v0.3797 SRC Zornitza Stark Marked gene: SRC as ready
Mendeliome v0.3797 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Mendeliome v0.3797 SRC Zornitza Stark Classified gene: SRC as Green List (high evidence)
Mendeliome v0.3797 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Mendeliome v0.3796 SRC Zornitza Stark gene: SRC was added
gene: SRC was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRC were set to 31204551; 26936507
Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937
Review for gene: SRC was set to GREEN
Added comment: Two families, and convincing functional data including animal model.
Sources: Expert list
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Marked gene: SRC as ready
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Classified gene: SRC as Green List (high evidence)
Bleeding and Platelet Disorders v0.164 SRC Zornitza Stark Gene: src has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.163 SRC Zornitza Stark gene: SRC was added
gene: SRC was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRC were set to 31204551; 26936507
Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937
Review for gene: SRC was set to GREEN
Added comment: Two families, and convincing functional data including animal model.
Sources: Expert list
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.162 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm
Bleeding and Platelet Disorders v0.161 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Bleeding and Platelet Disorders v0.160 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.159 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30809044; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050, Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Marked gene: SMAD3 as ready
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Gene: smad3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.159 SMAD3 Zornitza Stark Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795
Bleeding and Platelet Disorders v0.158 SMAD3 Zornitza Stark Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.157 SMAD3 Zornitza Stark reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3795 SLFN14 Zornitza Stark Marked gene: SLFN14 as ready
Mendeliome v0.3795 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Mendeliome v0.3795 SLFN14 Zornitza Stark Classified gene: SLFN14 as Green List (high evidence)
Mendeliome v0.3795 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Mendeliome v0.3794 SLFN14 Zornitza Stark gene: SLFN14 was added
gene: SLFN14 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Review for gene: SLFN14 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Marked gene: SLFN14 as ready
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Classified gene: SLFN14 as Green List (high evidence)
Bleeding and Platelet Disorders v0.157 SLFN14 Zornitza Stark Gene: slfn14 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.156 SLFN14 Zornitza Stark gene: SLFN14 was added
gene: SLFN14 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Review for gene: SLFN14 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.155 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050
Bleeding and Platelet Disorders v0.154 SLC2A10 Zornitza Stark Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.153 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Marked gene: SKI as ready
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Gene: ski has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.153 SKI Zornitza Stark Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212
Bleeding and Platelet Disorders v0.152 SKI Zornitza Stark Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.151 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM# 182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Classified gene: RUNX1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.151 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.150 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RUNX1 were set to 10508512
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Review for gene: RUNX1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Classified gene: RBM8A as Green List (high evidence)
Bleeding and Platelet Disorders v0.149 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.148 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
Review for gene: RBM8A was set to GREEN
Added comment: Note common deletion on chromosome 1q21.1 is usually involved.
Sources: Expert list
Bleeding and Platelet Disorders v0.147 PTPRJ Zornitza Stark edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopaenia
Mendeliome v0.3793 PTPRJ Zornitza Stark Marked gene: PTPRJ as ready
Mendeliome v0.3793 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3793 PTPRJ Zornitza Stark Classified gene: PTPRJ as Amber List (moderate evidence)
Mendeliome v0.3793 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3792 PTPRJ Zornitza Stark gene: PTPRJ was added
gene: PTPRJ was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRJ were set to 30591527
Phenotypes for gene: PTPRJ were set to Thrombocytopaenia
Review for gene: PTPRJ was set to AMBER
Added comment: Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model.
Sources: Expert list
Bleeding and Platelet Disorders v0.147 PTPRJ Zornitza Stark Phenotypes for gene: PTPRJ were changed from Thrombocytopania to Thrombocytopaenia
Bleeding and Platelet Disorders v0.146 PTPRJ Zornitza Stark Classified gene: PTPRJ as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.146 PTPRJ Zornitza Stark Gene: ptprj has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.145 PTPRJ Zornitza Stark gene: PTPRJ was added
gene: PTPRJ was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRJ were set to 30591527
Phenotypes for gene: PTPRJ were set to Thrombocytopania
Review for gene: PTPRJ was set to AMBER
Added comment: Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model.
Sources: Expert list
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Classified gene: PTPN11 as Green List (high evidence)
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.143 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950
Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PTPN11 was set to GREEN
Added comment: Thrombocytopaenia and bleeding tendency are common features of PTPN11-associated Noonan syndrome.
Sources: Expert list
Mendeliome v0.3791 PTGS1 Zornitza Stark Marked gene: PTGS1 as ready
Mendeliome v0.3791 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3791 PTGS1 Zornitza Stark Classified gene: PTGS1 as Amber List (moderate evidence)
Mendeliome v0.3791 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3790 PTGS1 Zornitza Stark gene: PTGS1 was added
gene: PTGS1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384; 8562397
Phenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding
Review for gene: PTGS1 was set to AMBER
Added comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level.
Sources: Expert list
Bleeding and Platelet Disorders v0.142 PTGS1 Zornitza Stark Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Marked gene: PTGS1 as ready
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Classified gene: PTGS1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.141 PTGS1 Zornitza Stark Gene: ptgs1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.140 PTGS1 Zornitza Stark edited their review of gene: PTGS1: Changed publications: 32299908, 11442478, 27629384, 8562397
Bleeding and Platelet Disorders v0.140 PTGS1 Zornitza Stark gene: PTGS1 was added
gene: PTGS1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397
Phenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding
Review for gene: PTGS1 was set to AMBER
Added comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level.
Sources: Expert list
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Marked gene: PRKG1 as ready
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Gene: prkg1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.139 PRKG1 Zornitza Stark Phenotypes for gene: PRKG1 were changed from to Aortic aneurysm, familial thoracic 8, MIM# 615436
Bleeding and Platelet Disorders v0.138 PRKG1 Zornitza Stark Mode of inheritance for gene: PRKG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.137 PRKG1 Zornitza Stark reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM# 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3789 PRKACG Zornitza Stark Marked gene: PRKACG as ready
Mendeliome v0.3789 PRKACG Zornitza Stark Gene: prkacg has been classified as Red List (Low Evidence).
Mendeliome v0.3789 PRKACG Zornitza Stark gene: PRKACG was added
gene: PRKACG was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKACG were set to 25061177; 30819905
Phenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176
Review for gene: PRKACG was set to RED
Added comment: Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual.
Sources: Expert list
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark Marked gene: PRKACG as ready
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark Gene: prkacg has been classified as Red List (Low Evidence).
Bleeding and Platelet Disorders v0.137 PRKACG Zornitza Stark gene: PRKACG was added
gene: PRKACG was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKACG were set to 25061177; 30819905
Phenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176
Review for gene: PRKACG was set to RED
Added comment: Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual.
Sources: Expert list
Mendeliome v0.3788 PLAU Zornitza Stark Marked gene: PLAU as ready
Mendeliome v0.3788 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Mendeliome v0.3788 PLAU Zornitza Stark Classified gene: PLAU as Green List (high evidence)
Mendeliome v0.3788 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Mendeliome v0.3787 PLAU Zornitza Stark Tag SV/CNV tag was added to gene: PLAU.
Mendeliome v0.3787 PLAU Zornitza Stark gene: PLAU was added
gene: PLAU was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAU were set to 20007542
Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709
Review for gene: PLAU was set to GREEN
Added comment: Note this is a tandem 78kb duplication of the gene, multiple families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Marked gene: PLAU as ready
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Classified gene: PLAU as Green List (high evidence)
Bleeding and Platelet Disorders v0.136 PLAU Zornitza Stark Gene: plau has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.135 PLAU Zornitza Stark gene: PLAU was added
gene: PLAU was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAU were set to 20007542
Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709
Review for gene: PLAU was set to GREEN
Added comment: Note this is a tandem 78kb duplication of the gene.
Sources: Expert list
Mendeliome v0.3786 PLA2G4A Zornitza Stark Marked gene: PLA2G4A as ready
Mendeliome v0.3786 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Mendeliome v0.3786 PLA2G4A Zornitza Stark Classified gene: PLA2G4A as Green List (high evidence)
Mendeliome v0.3786 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Mendeliome v0.3785 PLA2G4A Zornitza Stark gene: PLA2G4A was added
gene: PLA2G4A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G4A were set to 18451993; 25102815; 23268370
Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
Review for gene: PLA2G4A was set to GREEN
Added comment: At least three unrelated individuals reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Marked gene: PLA2G4A as ready
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Classified gene: PLA2G4A as Green List (high evidence)
Bleeding and Platelet Disorders v0.134 PLA2G4A Zornitza Stark Gene: pla2g4a has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.133 PLA2G4A Zornitza Stark gene: PLA2G4A was added
gene: PLA2G4A was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G4A were set to 18451993; 25102815; 23268370
Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
Review for gene: PLA2G4A was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.132 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Aortic aneurysm
Bleeding and Platelet Disorders v0.131 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Bleeding and Platelet Disorders v0.130 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.129 NOTCH1 Zornitza Stark reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064, 16025100, 25963545; Phenotypes: Aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.129 NBEAL2 Zornitza Stark Publications for gene: NBEAL2 were set to
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark edited their review of gene: NBEAL2: Changed publications: 21765412, 21765411, 21765413; Changed phenotypes: Gray platelet syndrome, MIM# 139090
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Marked gene: NBEAL2 as ready
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Classified gene: NBEAL2 as Green List (high evidence)
Bleeding and Platelet Disorders v0.128 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.127 NBEAL2 Zornitza Stark gene: NBEAL2 was added
gene: NBEAL2 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
Review for gene: NBEAL2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Marked gene: MYLK as ready
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Gene: mylk has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.126 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from to Aortic aneurysm, familial thoracic 7, MIM# 613780
Bleeding and Platelet Disorders v0.125 MYLK Zornitza Stark Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.124 MYLK Zornitza Stark reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM# 613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Classified gene: MYH9 as Green List (high evidence)
Bleeding and Platelet Disorders v0.124 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.123 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Review for gene: MYH9 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Marked gene: MYH11 as ready
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Gene: myh11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.122 MYH11 Zornitza Stark Phenotypes for gene: MYH11 were changed from to Aortic aneurysm, familial thoracic 4, MIM# 132900
Bleeding and Platelet Disorders v0.121 MYH11 Zornitza Stark Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.120 MYH11 Zornitza Stark reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Marked gene: MPL as ready
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Classified gene: MPL as Green List (high evidence)
Bleeding and Platelet Disorders v0.120 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.119 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 11133753
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Review for gene: MPL was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Mendeliome v0.3784 MPIG6B Zornitza Stark Marked gene: MPIG6B as ready
Mendeliome v0.3784 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Mendeliome v0.3784 MPIG6B Zornitza Stark Classified gene: MPIG6B as Green List (high evidence)
Mendeliome v0.3784 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Mendeliome v0.3783 MPIG6B Zornitza Stark gene: MPIG6B was added
gene: MPIG6B was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to 31276734; 29898956; 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Review for gene: MPIG6B was set to GREEN
Added comment: Six families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Marked gene: MPIG6B as ready
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Classified gene: MPIG6B as Green List (high evidence)
Bleeding and Platelet Disorders v0.118 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.117 MPIG6B Zornitza Stark gene: MPIG6B was added
gene: MPIG6B was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to 31276734; 29898956; 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Review for gene: MPIG6B was set to GREEN
Added comment: Six families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Marked gene: MFAP5 as ready
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.116 MFAP5 Zornitza Stark Phenotypes for gene: MFAP5 were changed from to Aortic aneurysm, familial thoracic MIM# 616166
Bleeding and Platelet Disorders v0.115 MFAP5 Zornitza Stark Publications for gene: MFAP5 were set to
Bleeding and Platelet Disorders v0.114 MFAP5 Zornitza Stark Mode of inheritance for gene: MFAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.113 MFAP5 Zornitza Stark Classified gene: MFAP5 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.113 MFAP5 Zornitza Stark Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.112 MFAP5 Zornitza Stark reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006, 30763214; Phenotypes: Aortic aneurysm, familial thoracic MIM# 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Marked gene: MED12 as ready
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Gene: med12 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.112 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from to Lujan-Fryns syndrome, MIM# 309520
Bleeding and Platelet Disorders v0.111 MED12 Zornitza Stark Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.110 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lujan-Fryns syndrome, MIM# 309520; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Marked gene: MECOM as ready
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Classified gene: MECOM as Green List (high evidence)
Bleeding and Platelet Disorders v0.110 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.109 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738
Review for gene: MECOM was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Marked gene: MAT2A as ready
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.108 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm
Mendeliome v0.3782 MAT2A Zornitza Stark Marked gene: MAT2A as ready
Mendeliome v0.3782 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3782 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm
Mendeliome v0.3781 MAT2A Zornitza Stark Publications for gene: MAT2A were set to
Bleeding and Platelet Disorders v0.107 MAT2A Zornitza Stark Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm
Mendeliome v0.3780 MAT2A Zornitza Stark Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3779 MAT2A Zornitza Stark Classified gene: MAT2A as Amber List (moderate evidence)
Mendeliome v0.3779 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3778 MAT2A Zornitza Stark reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25557781; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.106 MAT2A Zornitza Stark Publications for gene: MAT2A were set to
Bleeding and Platelet Disorders v0.105 MAT2A Zornitza Stark Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.104 MAT2A Zornitza Stark Classified gene: MAT2A as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.104 MAT2A Zornitza Stark Gene: mat2a has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.103 MAT2A Zornitza Stark reviewed gene: MAT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989, 25557781; Phenotypes: Thoracic aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Marked gene: LYST as ready
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Classified gene: LYST as Green List (high evidence)
Bleeding and Platelet Disorders v0.103 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.102 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM# 214500
Review for gene: LYST was set to GREEN
Added comment: Well established gene-disease association, thrombocytopaenia is a feature.
Sources: Expert list
Mendeliome v0.3778 LOX Zornitza Stark Marked gene: LOX as ready
Mendeliome v0.3778 LOX Zornitza Stark Gene: lox has been classified as Green List (High Evidence).
Mendeliome v0.3778 LOX Zornitza Stark Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168
Mendeliome v0.3777 LOX Zornitza Stark Publications for gene: LOX were set to
Mendeliome v0.3776 LOX Zornitza Stark Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Marked gene: LOX as ready
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Gene: lox has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.101 LOX Zornitza Stark Phenotypes for gene: LOX were changed from to Aortic aneurysm, familial thoracic 10, MIM# 617168
Mendeliome v0.3775 LOX Zornitza Stark reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 26838787, 30675029; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM# 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.100 LOX Zornitza Stark Publications for gene: LOX were set to
Bleeding and Platelet Disorders v0.99 LOX Zornitza Stark Mode of inheritance for gene: LOX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.98 LOX Zornitza Stark edited their review of gene: LOX: Added comment: Gene-disease association with aortic aneurysm rated as strong by ClinGen.; Changed publications: 30071989, 26838787, 30675029
Bleeding and Platelet Disorders v0.98 LOX Zornitza Stark reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM# 617168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3775 KDSR Zornitza Stark Marked gene: KDSR as ready
Mendeliome v0.3775 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Mendeliome v0.3775 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Mendeliome v0.3774 KDSR Zornitza Stark Publications for gene: KDSR were set to
Mendeliome v0.3773 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3772 KDSR Zornitza Stark reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774589, 30467204, 28575652; Phenotypes: Erythrokeratodermia variabilis et progressiva 4, MIM# 617526, severe thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Marked gene: KDSR as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.45 KDSR Zornitza Stark Phenotypes for gene: KDSR were changed from to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Palmoplantar Keratoderma and Erythrokeratoderma v0.44 KDSR Zornitza Stark Publications for gene: KDSR were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.43 KDSR Zornitza Stark Mode of inheritance for gene: KDSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 KDSR Zornitza Stark reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28774589, 30467204, 28575652; Phenotypes: Erythrokeratodermia variabilis et progressiva 4, MIM# 617526, severe thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Marked gene: KDSR as ready
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Classified gene: KDSR as Green List (high evidence)
Bleeding and Platelet Disorders v0.98 KDSR Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.97 KDSR Zornitza Stark gene: KDSR was added
gene: KDSR was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589; 30467204
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Review for gene: KDSR was set to GREEN
Added comment: At least 5 families reported where thrombocytopaenia was a significant feature in addition to the eryhtrokeratoderma.
Sources: Expert list
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Classified gene: HOXA11 as Green List (high evidence)
Bleeding and Platelet Disorders v0.96 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.95 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to 11101832; 16765069
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM# 605432
Review for gene: HOXA11 was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Marked gene: GNE as ready
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Classified gene: GNE as Green List (high evidence)
Bleeding and Platelet Disorders v0.94 GNE Zornitza Stark Gene: gne has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.93 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 30171045; 32505938; 29941673; 25257349
Phenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy
Review for gene: GNE was set to GREEN
Added comment: Multiple reports of thrombocytopaenia associated with bi-allelic variants in this gene, without or without a muscle phenotype. Note bi-allelic variants classically cause Nonaka myopathy.
Sources: Expert list
Mendeliome v0.3772 GGCX Zornitza Stark Marked gene: GGCX as ready
Mendeliome v0.3772 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Mendeliome v0.3772 GGCX Zornitza Stark Phenotypes for gene: GGCX were changed from to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
Mendeliome v0.3771 GGCX Zornitza Stark Publications for gene: GGCX were set to
Mendeliome v0.3770 GGCX Zornitza Stark Mode of inheritance for gene: GGCX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3769 GGCX Zornitza Stark reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 32785662, 30531603, 26758921; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Marked gene: GGCX as ready
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Classified gene: GGCX as Green List (high evidence)
Bleeding and Platelet Disorders v0.92 GGCX Zornitza Stark Gene: ggcx has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.91 GGCX Zornitza Stark gene: GGCX was added
gene: GGCX was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 32785662; 30531603; 26758921
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
Review for gene: GGCX was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Marked gene: GBA as ready
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Classified gene: GBA as Green List (high evidence)
Bleeding and Platelet Disorders v0.90 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.89 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease
Review for gene: GBA was set to GREEN
Added comment: Thrombocytopaenia secondary to hypersplenism.
Sources: Expert list
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Classified gene: GATA1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.88 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.87 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367
Review for gene: GATA1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Hydrops fetalis v0.163 GDF2 Zornitza Stark changed review comment from: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT.
Sources: Literature; to: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT/PAH.
Sources: Literature
Hereditary Haemorrhagic Telangiectasia v0.10 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Hereditary Haemorrhagic Telangiectasia v0.10 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Hereditary Haemorrhagic Telangiectasia v0.10 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Hydrops fetalis v0.163 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Hydrops fetalis v0.163 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.163 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF2 were set to 32618121
Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops
Review for gene: GDF2 was set to RED
Added comment: Single family reported, two affected individuals. Monoallelic variants in this gene are associated with HHT.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.2836 KAT8 Zornitza Stark Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974
Mendeliome v0.3769 KAT8 Zornitza Stark Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974
Mendeliome v0.3768 KAT8 Zornitza Stark edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani-Weisz syndrome, MIM#618974
Genetic Epilepsy v0.776 KAT8 Zornitza Stark Phenotypes for gene: KAT8 were changed from Intellectual disability; seizures; autism; dysmorphic features to Intellectual disability; seizures; autism; dysmorphic features; Li-Ghorbani-Weisz syndrome, MIM#618974
Genetic Epilepsy v0.775 KAT8 Zornitza Stark edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani-Weisz syndrome, MIM#618974
Genetic Epilepsy v0.775 KAT8 Zornitza Stark edited their review of gene: KAT8: Changed phenotypes: Intellectual disability, seizures, autism, dysmorphic features, Li-Ghorbani_Weisz syndrome, MIM#618974
Pharmacogenomics_Paediatric v0.49 CYP2C19 Zornitza Stark Publications for gene: CYP2C19 were set to 27981572
Pharmacogenomics_Paediatric v0.48 CYP2D6 Zornitza Stark Publications for gene: CYP2D6 were set to 18406467
Pharmacogenomics_Paediatric v0.47 CYP3A5 Zornitza Stark Publications for gene: CYP3A5 were set to 25801146
Pharmacogenomics_Paediatric v0.46 TPMT Zornitza Stark Phenotypes for gene: TPMT were changed from {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine to {Thiopurines, poor metabolism of, 1}, MIM# 610460; Azathioprine; Mercaptopurine; Thioguanines
Pharmacogenomics_Paediatric v0.45 HLA-B Zornitza Stark Publications for gene: HLA-B were set to 25099164; 23695185; 29392710
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Marked gene: POLG as ready
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.44 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Alpers syndrome
Pharmacogenomics_Paediatric v0.43 POLG Zornitza Stark Mode of pathogenicity for gene: POLG was changed from Other to None
Pharmacogenomics_Paediatric v0.42 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.41 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Pharmacogenomics_Paediatric v0.41 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.40 POLG Zornitza Stark reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpers syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Marked gene: DPYD as ready
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.40 DPYD Zornitza Stark Phenotypes for gene: DPYD were changed from to Fluoropyrimidine
Pharmacogenomics_Paediatric v0.39 DPYD Zornitza Stark Classified gene: DPYD as Amber List (moderate evidence)
Pharmacogenomics_Paediatric v0.39 DPYD Zornitza Stark Gene: dpyd has been classified as Amber List (Moderate Evidence).
Pharmacogenomics_Paediatric v0.38 DPYD Zornitza Stark edited their review of gene: DPYD: Changed rating: AMBER
Pharmacogenomics_Paediatric v0.38 DPYD Zornitza Stark reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 29152729; Phenotypes: Fluoropyrimidine; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Marked gene: CYP2D6 as ready
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Gene: cyp2d6 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.38 CYP2D6 Zornitza Stark Phenotypes for gene: CYP2D6 were changed from to Codeine, tramadol, oxycodone
Pharmacogenomics_Paediatric v0.37 CYP2D6 Zornitza Stark Classified gene: CYP2D6 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.37 CYP2D6 Zornitza Stark Gene: cyp2d6 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.36 CYP2D6 Zornitza Stark reviewed gene: CYP2D6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18406467, 24458010; Phenotypes: Codeine, tramadol, oxycodone; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Marked gene: CYP2C19 as ready
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Gene: cyp2c19 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.36 CYP2C19 Zornitza Stark Phenotypes for gene: CYP2C19 were changed from to Voriconazole
Pharmacogenomics_Paediatric v0.35 CYP2C19 Zornitza Stark Classified gene: CYP2C19 as Green List (high evidence)
Pharmacogenomics_Paediatric v0.35 CYP2C19 Zornitza Stark Gene: cyp2c19 has been classified as Green List (High Evidence).
Pharmacogenomics_Paediatric v0.34 CYP2C19 Zornitza Stark reviewed gene: CYP2C19: Rating: GREEN; Mode of pathogenicity: None; Publications: 27981572, 26616742, 31549386; Phenotypes: Voriconazole; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.34 Zornitza Stark removed gene:CFTR from the panel
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701 and Abacavir hypersensitivity.

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 TPMT David Metz commented on gene: TPMT
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other; to: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."
Pharmacogenomics_Paediatric v0.33 POLG David Metz gene: POLG was added
gene: POLG was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: POLG was set to Other
Publications for gene: POLG were set to 20138553
Mode of pathogenicity for gene: POLG was set to Other
Added comment: "POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders"
Sources: Other
Pharmacogenomics_Paediatric v0.33 DPYD David Metz gene: DPYD was added
gene: DPYD was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: DPYD was set to Other
Publications for gene: DPYD were set to 29152729
Mode of pathogenicity for gene: DPYD was set to Other
Added comment: Fluoropyrimidine Dosing
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: (24458010)
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467) ; to: PMID: 18406467
Genotype-phenotype concordance from 2 weeks of age

PMID: 24458010
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

PMID: 23232549
Carrier of HLA-B*5801 (HLA-B*5801/*X,b HLA-B*5801/HLA-B*5801), significant increase in risk of allopurinol induced SCAR (severe cutaneous adverse reaction).

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: PMID 29392710
HLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive:
Greater risk of carbamazepine-induced SJS/TEN.
Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz Deleted their comment
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz changed review comment from: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN
(26094938)


HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; to: PMID 29392710
HLA-B*15:02 positive: Greater risk of carbamazepine-induced SJS/TEN. Greater risk of oxcarbazepine induced SJS/TEN

PMID 26094938
Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN

HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz changed review comment from: Carbamazepine/Oxcarbazapine.
HLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: PMID 29392710
HLA-A*31:01 positive: Greater risk of carbamazepine-induced SJS/TEN, DRESS, and MPE (maculopapular exanthema)
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz changed review comment from: Carbamazepine/Oxcarbazapine.
At least one copy of either HLA-B*15:02 or HLA-A*31:01 associated with increased risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 also associated with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).; to: Carbamazepine/Oxcarbazapine.
HLA-B*15:02 or HLA-A*31:01 a/w increase risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN).
HLA-A*31:01 a/w with risk of drug reaction with eosinophilia and systemic symptoms (DRESS) and maculopapular exanthema (MPE).
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Marked gene: ADAMTS3 as ready
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Classified gene: ADAMTS3 as Amber List (moderate evidence)
Hydrops fetalis v0.162 ADAMTS3 Zornitza Stark Gene: adamts3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.161 ADAMTS3 Zornitza Stark gene: ADAMTS3 was added
gene: ADAMTS3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS3 were set to 30450763; 28985353
Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154
Review for gene: ADAMTS3 was set to AMBER
Added comment: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth.
Sources: Expert list
Pharmacogenomics_Paediatric v0.33 HLA-A David Metz commented on gene: HLA-A
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: (24458010)
Strong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine (tramadol, oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467) ; to: (24458010)
Strong evidence. Risk of toxicity from codeine, tramadol, (oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine, tramadol, (oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Voriconazole: Increased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Increased success cf. historical controls (PMID 31549386); to: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Voriconazole: Increased success cf. historical controls (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: Improved time to target concentration with genotype directed dosing (PMID 26616742); to: Improved time to target concentration with genotype directed dosing (PMID 26616742).

Increased success cf. historical controls (PMID 31549386)
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz edited their review of gene: CYP2C19: Added comment: Improved time to target concentration with genotype directed dosing (PMID 26616742); Changed publications: 27981572, 26616742
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz edited their review of gene: HLA-B: Added comment: Strong association between HLA-B*58:01 and allopurinol-induced SJS/TEN
(26094938)


HLA-B*5701-positive patients have an 80-fold elevated risk of flucloxacillin-induced liver injury. However, the incidence is low (1-2 per 1000 individuals).
https://www.pharmgkb.org/chemical/PA164781042/guidelineAnnotation/PA166182810; Changed publications: 26094938
Pharmacogenomics_Paediatric v0.33 HLA-B David Metz commented on gene: HLA-B
Pharmacogenomics_Paediatric v0.33 CFTR David Metz Deleted their review
Pharmacogenomics_Paediatric v0.33 CFTR David Metz gene: CFTR was added
gene: CFTR was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CFTR was set to Other
Mode of pathogenicity for gene: CFTR was set to Other
Added comment: CF genotype responsive to Ivacaftor
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz changed review comment from: Genotype-phenotype concordance from 2 weeks of age (18406467)
Sources: Other; to: (24458010)
Strong evidence. Risk of toxicity from codeine (lesser extent tramadol, oxycodone) if ultrarapid metaboliser.
Insensitivity to codeine (tramadol, oxycodone) if poor metaboliser.

Genotype-phenotype concordance from 2 weeks of age (18406467)
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz changed review comment from: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of
therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.; to: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz commented on gene: CYP2C9: (32189324)
Note poor metabolizer status has increased exposure (and possible sensitivity) to certain NSAIDs.
"Alternative therapies not primarily metabolized by CYP2C9 include aspirin, ketorolac, naproxen, and sulindac. Selection of
therapy will depend on individual patient treatment goals and risks for toxicity."
Probably not sufficient evidence to test for CYP2C9 alone, however if information available may be worth noting.
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz changed review comment from: (27981572)
Voriconazole, moderate level evidence.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other; to: (27981572)
Voriconazole, moderate strength.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong recommendation (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP2C19 David Metz gene: CYP2C19 was added
gene: CYP2C19 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CYP2C19 was set to Other
Publications for gene: CYP2C19 were set to 27981572
Added comment: (27981572)
Voriconazole, moderate level evidence.
Poor metabolizer: "Higher dose-adjusted trough concentrations of voriconazole and
may increase probability of adverse events."
Ultrarapid metabolizer: "probability of attainment of therapeutic voriconazole concentrations is small with standard dosing."

(23698643)
Clopidogrel, strong evidence (though only shown in adult acute coronary syndrome / percutaneous coronary intervention).
Poor metabolizer: Significantly reduced platelet inhibition; increased residual platelet aggregation; increased risk for adverse cardiovascular events.
Sources: Other
Pharmacogenomics_Paediatric v0.33 CYP3A5 David Metz commented on gene: CYP3A5: Reduced bioavailability/clearance of tacrolimus.
Association with negative outcomes in kidney transplantation.
Pharmacogenomics_Paediatric v0.33 CYP2C9 David Metz reviewed gene: CYP2C9: Rating: ; Mode of pathogenicity: None; Publications: 18406467; Phenotypes: ; Mode of inheritance: None
Pharmacogenomics_Paediatric v0.33 CYP2D6 David Metz gene: CYP2D6 was added
gene: CYP2D6 was added to Pharmacogenomics_Paediatric. Sources: Other
Mode of inheritance for gene: CYP2D6 was set to Other
Publications for gene: CYP2D6 were set to 18406467
Added comment: Genotype-phenotype concordance from 2 weeks of age (18406467)
Sources: Other
Hydrops fetalis v0.160 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Hydrops fetalis v0.160 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.160 GATA2 Zornitza Stark Classified gene: GATA2 as Amber List (moderate evidence)
Hydrops fetalis v0.160 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.159 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21892158
Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038
Review for gene: GATA2 was set to AMBER
Added comment: Typically presents with lower limb oedema but at least one presentation with hydrops reported.
Sources: Expert list
Hydrops fetalis v0.158 UROS Zornitza Stark Marked gene: UROS as ready
Hydrops fetalis v0.158 UROS Zornitza Stark Gene: uros has been classified as Red List (Low Evidence).
Hydrops fetalis v0.158 UROS Zornitza Stark gene: UROS was added
gene: UROS was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 24027798
Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, MIM# 263700
Review for gene: UROS was set to RED
Added comment: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports.
Sources: Expert list
Pharmacogenomics_Paediatric v0.33 CYP3A5 David Metz reviewed gene: CYP3A5: Rating: ; Mode of pathogenicity: None; Publications: 25201288; Phenotypes: ; Mode of inheritance: None
Hydrops fetalis v0.157 SOX18 Zornitza Stark Marked gene: SOX18 as ready
Hydrops fetalis v0.157 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Hydrops fetalis v0.157 SOX18 Zornitza Stark Classified gene: SOX18 as Green List (high evidence)
Hydrops fetalis v0.157 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Hydrops fetalis v0.156 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SOX18 were set to 12740761; 26631803
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Review for gene: SOX18 was set to GREEN
Added comment: Prenatal onset with hydrops reported in at least two cases.
Sources: Expert list
Hydrops fetalis v0.155 NPC2 Zornitza Stark changed review comment from: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease.
Sources: Expert list; to: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. One identified for NPC2-associated disease.
Sources: Expert list
Hydrops fetalis v0.155 NPC2 Zornitza Stark edited their review of gene: NPC2: Changed publications: 29928259; Changed phenotypes: Niemann-pick disease, type C2, MIM# 607625
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.155 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 16010481
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, MIM# 212140
Review for gene: SLC22A5 was set to RED
Added comment: Single case report identified.
Sources: Expert list
Hydrops fetalis v0.154 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Hydrops fetalis v0.154 RPS26 Zornitza Stark Gene: rps26 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.154 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10, MIM# 613309
Review for gene: RPS26 was set to RED
Added comment: Hydrops is a feature of DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.153 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Hydrops fetalis v0.153 RPS24 Zornitza Stark Gene: rps24 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.153 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, MIM# 610629
Review for gene: RPS24 was set to RED
Added comment: Hydrops is a feature of DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.152 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Hydrops fetalis v0.152 RPS10 Zornitza Stark Gene: rps10 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.152 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anemia 9, MIM# 613308
Review for gene: RPS10 was set to RED
Added comment: Hydrops has been described in DBS, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.151 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Hydrops fetalis v0.151 RPL5 Zornitza Stark Gene: rpl5 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.151 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL5 were set to 20301769
Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6, MIM# 612561
Review for gene: RPL5 was set to RED
Added comment: Hydrops has been reported in DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.150 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Hydrops fetalis v0.150 RPL35A Zornitza Stark Gene: rpl35a has been classified as Red List (Low Evidence).
Hydrops fetalis v0.150 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35A were set to 20301769
Phenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, MIM# 612528
Review for gene: RPL35A was set to RED
Added comment: Hydrops is a feature of DBS, but no specific case reports identified linking this gene to hydrops.
Sources: Expert list
Hydrops fetalis v0.149 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Hydrops fetalis v0.149 RPS19 Zornitza Stark Gene: rps19 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.149 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS19 were set to 23349008
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650
Review for gene: RPS19 was set to RED
Added comment: Single case report.
Sources: Expert list
Hydrops fetalis v0.148 RASA1 Zornitza Stark Marked gene: RASA1 as ready
Hydrops fetalis v0.148 RASA1 Zornitza Stark Gene: rasa1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.148 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RASA1 were set to 26096958
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 1, MIM# 608354
Review for gene: RASA1 was set to RED
Added comment: Single case report.
Sources: Expert list
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark Marked gene: PIK3R2 as ready
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark Gene: pik3r2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.147 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R2 were set to 23754335
Phenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: PIK3R2 was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Hydrops fetalis v0.146 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Hydrops fetalis v0.146 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Red List (Low Evidence).
Hydrops fetalis v0.146 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3CA were set to 23754335
Phenotypes for gene: PIK3CA were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: PIK3CA was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Hydrops fetalis v0.145 ALG1 Zornitza Stark edited their review of gene: ALG1: Changed rating: AMBER
Hydrops fetalis v0.145 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Hydrops fetalis v0.145 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Hydrops fetalis v0.145 SEC23B Zornitza Stark Classified gene: SEC23B as Green List (high evidence)
Hydrops fetalis v0.145 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Hydrops fetalis v0.144 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 29300242; 20381388
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100
Review for gene: SEC23B was set to GREEN
Added comment: Three cases reported of severe presentation including hydrops.
Sources: Expert list
Hydrops fetalis v0.143 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Hydrops fetalis v0.143 NPC2 Zornitza Stark Gene: npc2 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.143 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM# 607625
Review for gene: NPC2 was set to RED
Added comment: Multiple reports of hydrops/fetal ascites in NPC1-associated disease. None identified for NPC2-associated disease.
Sources: Expert list
Hydrops fetalis v0.142 RYR1 Zornitza Stark edited their review of gene: RYR1: Changed rating: GREEN
Hydrops fetalis v0.142 MID1 Zornitza Stark Marked gene: MID1 as ready
Hydrops fetalis v0.142 MID1 Zornitza Stark Gene: mid1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.142 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MID1 were set to 3517843; 24863803
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I 300000
Review for gene: MID1 was set to RED
Added comment: Two reports of hydrops in Opitz G, in the context of complex congenital heart disease, one of them dating back to 1986, not molecularly confirmed.
Sources: Expert list
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.141 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM# 248500
Review for gene: MAN2B1 was set to RED
Added comment: Cannot find reports of hydrops associated with this particular lysosomal disorder.
Sources: Expert list
Hydrops fetalis v0.140 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Hydrops fetalis v0.140 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.140 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Hydrops fetalis v0.140 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.139 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 26537577; 32442335
Phenotypes for gene: LARS2 were set to Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
Review for gene: LARS2 was set to GREEN
Added comment: Three families reported with multi-system disease including hydrops.
Sources: Expert list
Hydrops fetalis v0.138 KDM6A Zornitza Stark Marked gene: KDM6A as ready
Hydrops fetalis v0.138 KDM6A Zornitza Stark Gene: kdm6a has been classified as Red List (Low Evidence).
Hydrops fetalis v0.138 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: KDM6A was set to Other
Publications for gene: KDM6A were set to 27568880
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867
Review for gene: KDM6A was set to RED
Added comment: Reports of hydrops in KMT2D-related Kabuki syndrome, however no specific reports of hydrops in individuals with KDM6A-related Kabuki, XLD.
Sources: Expert list
Hydrops fetalis v0.137 HEXB Zornitza Stark Marked gene: HEXB as ready
Hydrops fetalis v0.137 HEXB Zornitza Stark Gene: hexb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.137 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
Review for gene: HEXB was set to RED
Added comment: Cannot find specific reports of hydrops with this lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.136 HEXA Zornitza Stark Marked gene: HEXA as ready
Hydrops fetalis v0.136 HEXA Zornitza Stark Gene: hexa has been classified as Red List (Low Evidence).
Hydrops fetalis v0.136 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, MIM# 272800
Review for gene: HEXA was set to RED
Added comment: Cannot find specific reports of hydrops in this lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.135 HBA1 Zornitza Stark Tag SV/CNV tag was added to gene: HBA1.
Hydrops fetalis v0.135 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Hydrops fetalis v0.135 HBA2 Zornitza Stark Gene: hba2 has been classified as Green List (High Evidence).
Hydrops fetalis v0.135 HBA2 Zornitza Stark Phenotypes for gene: HBA2 were changed from to Thalassemia, alpha-, MIM# 604131
Hydrops fetalis v0.134 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.133 HBA2 Zornitza Stark Tag SV/CNV tag was added to gene: HBA2.
Hydrops fetalis v0.133 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.133 HBA1 Zornitza Stark Marked gene: HBA1 as ready
Hydrops fetalis v0.133 HBA1 Zornitza Stark Gene: hba1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.133 HBA1 Zornitza Stark Phenotypes for gene: HBA1 were changed from to Thalassemias, alpha- , MIM#604131
Hydrops fetalis v0.132 HBA1 Zornitza Stark Mode of inheritance for gene: HBA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.131 HBA1 Zornitza Stark reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.131 HADHB Zornitza Stark Marked gene: HADHB as ready
Hydrops fetalis v0.131 HADHB Zornitza Stark Gene: hadhb has been classified as Red List (Low Evidence).
Hydrops fetalis v0.131 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 26070998
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, MIM# 609015
Review for gene: HADHB was set to RED
Added comment: Single case reported with prenatal onset cardiomyopathy and hydrops.
Sources: Expert list
Hydrops fetalis v0.130 HADHA Zornitza Stark Marked gene: HADHA as ready
Hydrops fetalis v0.130 HADHA Zornitza Stark Gene: hadha has been classified as Red List (Low Evidence).
Hydrops fetalis v0.130 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 23137060; 11111210
Phenotypes for gene: HADHA were set to LCHAD deficiency, MIM# 609016
Review for gene: HADHA was set to RED
Added comment: Gene listed in a review as a cause of fetal hydrops, single case report identified to support link.
Sources: Expert list
Hydrops fetalis v0.129 HADH Zornitza Stark Marked gene: HADH as ready
Hydrops fetalis v0.129 HADH Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence).
Hydrops fetalis v0.129 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
Review for gene: HADH was set to RED
Added comment: Cannot find specific reports of hydrops associated with this metabolic disorder.
Sources: Expert list
Hydrops fetalis v0.128 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Mendeliome v0.3768 GPI Zornitza Stark Marked gene: GPI as ready
Mendeliome v0.3768 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Mendeliome v0.3768 GPI Zornitza Stark Phenotypes for gene: GPI were changed from to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470
Mendeliome v0.3767 GPI Zornitza Stark Mode of inheritance for gene: GPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3766 GPI Zornitza Stark reviewed gene: GPI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.127 GPI Zornitza Stark Marked gene: GPI as ready
Hydrops fetalis v0.127 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Hydrops fetalis v0.127 GPI Zornitza Stark Classified gene: GPI as Green List (high evidence)
Hydrops fetalis v0.127 GPI Zornitza Stark Gene: gpi has been classified as Green List (High Evidence).
Hydrops fetalis v0.126 GPI Zornitza Stark gene: GPI was added
gene: GPI was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPI were set to 29227722; 3796702; 469896; 26509025
Phenotypes for gene: GPI were set to Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470
Review for gene: GPI was set to GREEN
Added comment: Severe presentation with hydrops reported in at least four cases.
Sources: Expert list
Hydrops fetalis v0.125 GALC Zornitza Stark Marked gene: GALC as ready
Hydrops fetalis v0.125 GALC Zornitza Stark Gene: galc has been classified as Red List (Low Evidence).
Hydrops fetalis v0.125 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200
Review for gene: GALC was set to RED
Added comment: Cannot find reports of hydrops with this specific lysosomal storage disorder.
Sources: Expert list
Hydrops fetalis v0.124 G6PD Zornitza Stark Marked gene: G6PD as ready
Hydrops fetalis v0.124 G6PD Zornitza Stark Gene: g6pd has been classified as Red List (Low Evidence).
Hydrops fetalis v0.124 G6PD Zornitza Stark Phenotypes for gene: G6PD were changed from emolytic anemia, G6PD deficient (favism), MIM# 300908 to Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Hydrops fetalis v0.123 G6PD Zornitza Stark edited their review of gene: G6PD: Changed phenotypes: Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Hydrops fetalis v0.123 G6PD Zornitza Stark gene: G6PD was added
gene: G6PD was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: G6PD were set to 23719252; 24999569
Phenotypes for gene: G6PD were set to emolytic anemia, G6PD deficient (favism), MIM# 300908
Review for gene: G6PD was set to RED
Added comment: Two case reports identified. However, a second diagnosis was present in both and the G6PD deficiency may have contributed to severity rather than being the primary factor.
Sources: Expert list
Hydrops fetalis v0.122 FUCA1 Zornitza Stark Marked gene: FUCA1 as ready
Hydrops fetalis v0.122 FUCA1 Zornitza Stark Gene: fuca1 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.122 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, MIM# 230000
Review for gene: FUCA1 was set to RED
Added comment: Cannot find specific reports of hydrops in this lysosomal disorder, though several others can present with hydrops.
Sources: Expert list
Hydrops fetalis v0.121 DMPK Zornitza Stark edited their review of gene: DMPK: Changed publications: 9134395, 8140064; Changed phenotypes: Myotonic dystrophy 1, MIM# 160900
Hydrops fetalis v0.121 EBP Zornitza Stark Marked gene: EBP as ready
Hydrops fetalis v0.121 EBP Zornitza Stark Gene: ebp has been classified as Red List (Low Evidence).
Hydrops fetalis v0.121 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: EBP was set to Other
Publications for gene: EBP were set to 23137060
Phenotypes for gene: EBP were set to Chondrodysplasia punctata, X-linked dominant, MIM# 302960
Review for gene: EBP was set to RED
Added comment: XLD. Listed as a cause of hydrops in a review, cannot find reported cases.
Sources: Expert list
Hydrops fetalis v0.120 FH Zornitza Stark Marked gene: FH as ready
Hydrops fetalis v0.120 FH Zornitza Stark Gene: fh has been classified as Red List (Low Evidence).
Hydrops fetalis v0.120 FH Zornitza Stark gene: FH was added
gene: FH was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FH were set to 23137060
Phenotypes for gene: FH were set to Fumarase deficiency, MIM# 606812
Review for gene: FH was set to RED
Added comment: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.
Sources: Expert list
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Classified gene: FGFR3 as Green List (high evidence)
Hydrops fetalis v0.119 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.118 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGFR3 were set to 24075385
Phenotypes for gene: FGFR3 were set to Thanatophoric dysplasia
Review for gene: FGFR3 was set to GREEN
Added comment: Severe FGFR3-related disease can cause reduced fetal movements and hydrops.
Sources: Expert list
Hydrops fetalis v0.117 DMPK Zornitza Stark Marked gene: DMPK as ready
Hydrops fetalis v0.117 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.117 DMPK Zornitza Stark Tag STR tag was added to gene: DMPK.
Hydrops fetalis v0.117 DMPK Zornitza Stark Classified gene: DMPK as Green List (high evidence)
Hydrops fetalis v0.117 DMPK Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence).
Hydrops fetalis v0.116 DMPK Zornitza Stark gene: DMPK was added
gene: DMPK was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMPK were set to 9134395
Phenotypes for gene: DMPK were set to Myotonic dystrophy 1, MIM# 160900
Review for gene: DMPK was set to GREEN
Added comment: Reduced fetal movements and hydrops reported. Note triplet expansion may not be tractable depending on the assay used.
Sources: Expert list
Hydrops fetalis v0.115 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Hydrops fetalis v0.115 AKT3 Zornitza Stark Gene: akt3 has been classified as Red List (Low Evidence).
Hydrops fetalis v0.115 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT3 were set to 23754335
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937
Review for gene: AKT3 was set to RED
Added comment: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Marked gene: SMARCAD1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Classified gene: SMARCAD1 as Amber List (moderate evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.42 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Amber List (Moderate Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 SMARCAD1 Paul De Fazio gene: SMARCAD1 was added
gene: SMARCAD1 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCAD1 were set to 26932190; 24664640
Phenotypes for gene: SMARCAD1 were set to Basan syndrome (MIM#129200)
Review for gene: SMARCAD1 was set to AMBER
gene: SMARCAD1 was marked as current diagnostic
Added comment: Associated with Basan syndrome which can present with Palmoplantar Keratoderma although it is not a major feature.

Two families with Basan syndrome where some individuals have PPK are described in 26932190 and 24664640.

Amber in PanelApp GEL
Sources: Literature
Ichthyosis and Porokeratosis v0.87 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Ichthyosis and Porokeratosis v0.87 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.87 SNAP29 Zornitza Stark Classified gene: SNAP29 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.87 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Marked gene: KRT16 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Gene: krt16 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.41 KRT16 Zornitza Stark Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.40 KRT16 Zornitza Stark Publications for gene: KRT16 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.39 KRT16 Zornitza Stark Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Marked gene: KRT14 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Gene: krt14 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.38 KRT14 Zornitza Stark Phenotypes for gene: KRT14 were changed from to Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000); Dermatopathia pigmentosa reticularis (MIM#125595)
Palmoplantar Keratoderma and Erythrokeratoderma v0.37 KRT14 Zornitza Stark Publications for gene: KRT14 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.36 KRT14 Zornitza Stark Mode of inheritance for gene: KRT14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Marked gene: JUP as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Gene: jup has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.35 JUP Zornitza Stark Phenotypes for gene: JUP were changed from to Naxos disease (MIM#601214)
Palmoplantar Keratoderma and Erythrokeratoderma v0.34 JUP Zornitza Stark Publications for gene: JUP were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.33 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3766 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Mendeliome v0.3766 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Mendeliome v0.3766 KANK2 Zornitza Stark Phenotypes for gene: KANK2 were changed from to Palmoplantar keratoderma and woolly hair (MIM#616099); Nephrotic syndrome, type 16, MIM#617783
Mendeliome v0.3765 KANK2 Zornitza Stark Publications for gene: KANK2 were set to
Mendeliome v0.3764 KANK2 Zornitza Stark Mode of inheritance for gene: KANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3763 KANK2 Zornitza Stark reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25961457, 24671081; Phenotypes: Palmoplantar keratoderma and woolly hair (MIM#616099), Nephrotic syndrome, type 16, MIM#617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Tag founder tag was added to gene: KANK2.
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Classified gene: KANK2 as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.32 KANK2 Zornitza Stark Gene: kank2 has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Gene: gjb6 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.31 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Ectodermal dysplasia 2, Clouston type (MIM# 129500)
Palmoplantar Keratoderma and Erythrokeratoderma v0.30 GJB6 Zornitza Stark Publications for gene: GJB6 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.29 GJB6 Zornitza Stark Mode of inheritance for gene: GJB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.28 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100); Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525)
Palmoplantar Keratoderma and Erythrokeratoderma v0.27 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.26 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3763 FAM83G Zornitza Stark Marked gene: FAM83G as ready
Mendeliome v0.3763 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Mendeliome v0.3763 FAM83G Zornitza Stark gene: FAM83G was added
gene: FAM83G was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy
Review for gene: FAM83G was set to RED
Added comment: PMID: 29138053; - 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair - progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years > homozygous for a missense p.(Ala34Glu)
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Marked gene: FAM83G as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Classified gene: FAM83G as Red List (low evidence)
Palmoplantar Keratoderma and Erythrokeratoderma v0.25 FAM83G Zornitza Stark Gene: fam83g has been classified as Red List (Low Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.24 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from to Cole disease (MIM#615522)
Palmoplantar Keratoderma and Erythrokeratoderma v0.23 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.22 ENPP1 Zornitza Stark Mode of inheritance for gene: ENPP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.86 ELOVL4 Zornitza Stark Marked gene: ELOVL4 as ready
Ichthyosis and Porokeratosis v0.86 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.86 ELOVL4 Zornitza Stark Classified gene: ELOVL4 as Green List (high evidence)
Ichthyosis and Porokeratosis v0.86 ELOVL4 Zornitza Stark Gene: elovl4 has been classified as Green List (High Evidence).
Mendeliome v0.3762 LONP2 Zornitza Stark Marked gene: LONP2 as ready
Mendeliome v0.3762 LONP2 Zornitza Stark Gene: lonp2 has been classified as Red List (Low Evidence).
Mendeliome v0.3762 LONP2 Zornitza Stark Classified gene: LONP2 as Red List (low evidence)
Mendeliome v0.3762 LONP2 Zornitza Stark Gene: lonp2 has been classified as Red List (Low Evidence).
Mendeliome v0.3761 CAST Zornitza Stark Marked gene: CAST as ready
Mendeliome v0.3761 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Mendeliome v0.3761 CAST Zornitza Stark Phenotypes for gene: CAST were changed from to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)
Mendeliome v0.3760 CAST Zornitza Stark Publications for gene: CAST were set to
Mendeliome v0.3759 CAST Zornitza Stark Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3758 CAST Zornitza Stark reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Marked gene: CAST as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Gene: cast has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.21 CAST Zornitza Stark Phenotypes for gene: CAST were changed from to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295)
Palmoplantar Keratoderma and Erythrokeratoderma v0.20 CAST Zornitza Stark Publications for gene: CAST were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.19 CAST Zornitza Stark Mode of inheritance for gene: CAST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3758 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Mendeliome v0.3758 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Mendeliome v0.3758 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Pityriasis rubra pilaris (MIM#173200)
Mendeliome v0.3757 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Mendeliome v0.3756 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3755 CARD14 Zornitza Stark reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22703878, 27760266; Phenotypes: Pityriasis rubra pilaris (MIM#173200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.18 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Pityriasis rubra pilaris (MIM#173200)
Palmoplantar Keratoderma and Erythrokeratoderma v0.17 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.16 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.85 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Ichthyosis and Porokeratosis v0.85 ABCA12 Zornitza Stark Gene: abca12 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v0.85 ABCA12 Zornitza Stark Phenotypes for gene: ABCA12 were changed from to Ichthyosis, congenital, autosomal recessive 4A (MIM#601277); Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Ichthyosis and Porokeratosis v0.84 ABCA12 Zornitza Stark Publications for gene: ABCA12 were set to
Ichthyosis and Porokeratosis v0.83 ABCA12 Zornitza Stark Mode of inheritance for gene: ABCA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3755 TRPV3 Zornitza Stark Marked gene: TRPV3 as ready
Mendeliome v0.3755 TRPV3 Zornitza Stark Gene: trpv3 has been classified as Green List (High Evidence).
Mendeliome v0.3755 TRPV3 Zornitza Stark Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594
Mendeliome v0.3754 TRPV3 Zornitza Stark Publications for gene: TRPV3 were set to
Mendeliome v0.3753 TRPV3 Zornitza Stark Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.3752 TRPV3 Zornitza Stark reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25285920, 22405088, 24452206; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark edited their review of gene: TRPV3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Marked gene: TRPV3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Gene: trpv3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.15 TRPV3 Zornitza Stark Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594
Palmoplantar Keratoderma and Erythrokeratoderma v0.14 TRPV3 Zornitza Stark Publications for gene: TRPV3 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.13 TRPV3 Zornitza Stark Mode of pathogenicity for gene: TRPV3 was changed from to Other
Palmoplantar Keratoderma and Erythrokeratoderma v0.12 TRPV3 Zornitza Stark Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 TRPV3 Zornitza Stark reviewed gene: TRPV3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25285920, 22405088, 24452206; Phenotypes: Olmsted syndrome, MIM# 614594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 SNAP29 Paul De Fazio reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 15968592, 21073448, 25958742, 29051910; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Marked gene: AAGAB as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Gene: aagab has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.11 AAGAB Zornitza Stark Phenotypes for gene: AAGAB were changed from to Keratoderma, palmoplantar, punctate type IA (MIM#148600)
Palmoplantar Keratoderma and Erythrokeratoderma v0.10 AAGAB Zornitza Stark Publications for gene: AAGAB were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.9 AAGAB Zornitza Stark Mode of inheritance for gene: AAGAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ichthyosis and Porokeratosis v0.82 SNAP29 Paul De Fazio edited their review of gene: SNAP29: Changed rating: GREEN; Changed publications: 15968592, 21073448, 25958742, 29051910
Ichthyosis and Porokeratosis v0.82 SNAP29 Paul De Fazio gene: SNAP29 was added
gene: SNAP29 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 15968592; 21073448
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Review for gene: SNAP29 was set to AMBER
gene: SNAP29 was marked as current diagnostic
Added comment: At least 5 families with biallelic LoF variants associated with a multisystem disorder that includes both ichthyosis and palmar keratoderma later in development.

PMID 15968592: Describes individuals from 2 unrelated consanguineous Arab Muslim families with CEDNIK syndrome. Palmoplantar keratosis and ichthyosis appeared between 5 and 11 months of age. Variant was a homozygous frameshift.

PMID 21073448: Brother and sister from a consanguineous Pakistani family with CEDNIK syndrome. Phenotypes included palmoplantar keratosis and ichthyosis. Variant was a homozygous frameshift (8 hets in gnomAD).

PMID 25958742: describes another Arab family with a homozygous frameshift variant.

PMID 29051910: one more American Jordanian family with a homozygous nonsense variant.
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT16 Naomi Baker reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KRT14 Ain Roesley reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 31525823, 16960809, 19040520; Phenotypes: Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000), Dermatopathia pigmentosa reticularis (MIM#125595); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 JUP Naomi Baker reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10902626, 20130592; Phenotypes: Naxos disease (MIM#601214); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.114 PRF1 Zornitza Stark Marked gene: PRF1 as ready
Hydrops fetalis v0.114 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.114 PRF1 Zornitza Stark Classified gene: PRF1 as Green List (high evidence)
Hydrops fetalis v0.114 PRF1 Zornitza Stark Gene: prf1 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KANK2 Ain Roesley changed review comment from: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*no additional reports in pubmed
Sources: Literature; to: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*caution: disease association doesnt have ? in OMIM
*no additional reports in pubmed
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 KANK2 Ain Roesley gene: KANK2 was added
gene: KANK2 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 24671081
Phenotypes for gene: KANK2 were set to Palmoplantar keratoderma and woolly hair (MIM#616099)
Penetrance for gene: KANK2 were set to unknown
Review for gene: KANK2 was set to RED
Added comment: PMID: 24671081;
- 2 consanguineous families both Arabs and from the same region
- palmoplantar keratoderma and woolly hair, without cardiomyopath
> same p.(Ala670Val) missense

*no additional reports in pubmed
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 GJB6 Ain Roesley reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23219093, 19416251, 27137747; Phenotypes: Ectodermal dysplasia 2, Clouston type (MIM# 129500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Marked gene: FYB1 as ready
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Classified gene: FYB1 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.86 FYB1 Zornitza Stark Gene: fyb1 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.85 FYB1 Zornitza Stark gene: FYB1 was added
gene: FYB1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FYB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FYB1 were set to 25516138; 25876182
Phenotypes for gene: FYB1 were set to Thrombocytopenia 3, MIM# 273900
Review for gene: FYB1 was set to AMBER
Added comment: Two families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.84 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349
Bleeding and Platelet Disorders v0.83 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Bleeding and Platelet Disorders v0.82 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.81 FOXE3 Zornitza Stark Classified gene: FOXE3 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.81 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.80 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30071989; Phenotypes: Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Marked gene: FLNA as ready
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.80 FLNA Zornitza Stark Publications for gene: FLNA were set to
Bleeding and Platelet Disorders v0.79 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Macrothrombocytopaenia
Bleeding and Platelet Disorders v0.78 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.77 FLNA Zornitza Stark reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 32299270; Phenotypes: Macrothrombocytopaenia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Marked gene: FLI1 as ready
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Gene: fli1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Classified gene: FLI1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.77 FLI1 Zornitza Stark Gene: fli1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.76 FLI1 Zornitza Stark gene: FLI1 was added
gene: FLI1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLI1 were set to 24100448; 28255014; 26316623
Phenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Review for gene: FLI1 was set to GREEN
Added comment: Association with mono-allelic variants better established than bi-allelic variants.
Sources: Expert list
Bleeding and Platelet Disorders v0.75 Zornitza Stark removed gene:FLII from the panel
Bleeding and Platelet Disorders v0.74 FLII Zornitza Stark gene: FLII was added
gene: FLII was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FLII was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLII were set to 24100448; 28255014; 26316623
Phenotypes for gene: FLII were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Review for gene: FLII was set to GREEN
Added comment: Sources: Expert list
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Marked gene: FERMT3 as ready
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Classified gene: FERMT3 as Green List (high evidence)
Bleeding and Platelet Disorders v0.73 FERMT3 Zornitza Stark Gene: fermt3 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.72 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
Review for gene: FERMT3 was set to GREEN
Added comment: Epistaxis, mucosal bleeding, defective platelet adhesion.
Sources: Expert list
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.71 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700
Bleeding and Platelet Disorders v0.70 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.69 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Classified gene: ETV6 as Green List (high evidence)
Bleeding and Platelet Disorders v0.69 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.68 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETV6 were set to 25581430; 25807284
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
Review for gene: ETV6 was set to GREEN
Added comment: At least 6 families reported.
Sources: Expert list
Mendeliome v0.3752 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Mendeliome v0.3752 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3752 EPHB2 Zornitza Stark Phenotypes for gene: EPHB2 were changed from to Bleeding disorder, platelet-type, 22, MIM# 618462
Mendeliome v0.3751 EPHB2 Zornitza Stark Publications for gene: EPHB2 were set to
Mendeliome v0.3750 EPHB2 Zornitza Stark Mode of inheritance for gene: EPHB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.3749 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Mendeliome v0.3749 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3748 EPHB2 Zornitza Stark reviewed gene: EPHB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30213874, 25370417; Phenotypes: Bleeding disorder, platelet-type, 22, MIM# 618462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.188 EPHB2 Zornitza Stark changed review comment from: Cannot find evidence of gene-disease association in humans.; to: Experimental evidence for a role of Ephb2 in corpus callosum formation but cannot find reports of variants linking to CC abnormalities in humans.
Callosome v0.188 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Callosome v0.188 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Red List (Low Evidence).
Callosome v0.188 EPHB2 Zornitza Stark Publications for gene: EPHB2 were set to
Callosome v0.187 EPHB2 Zornitza Stark Classified gene: EPHB2 as Red List (low evidence)
Callosome v0.187 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Red List (Low Evidence).
Callosome v0.186 EPHB2 Zornitza Stark reviewed gene: EPHB2: Rating: RED; Mode of pathogenicity: None; Publications: 26148571; Phenotypes: ; Mode of inheritance: None
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Classified gene: EPHB2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.67 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.66 EPHB2 Zornitza Stark gene: EPHB2 was added
gene: EPHB2 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: EPHB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPHB2 were set to 30213874; 25370417
Phenotypes for gene: EPHB2 were set to Bleeding disorder, platelet-type, 22, MIM# 618462
Review for gene: EPHB2 was set to AMBER
Added comment: Single family and a mouse model.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 GJA1 Ain Roesley reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25398053, 25168385, 30811667; Phenotypes: Palmoplantar keratoderma with congenital alopecia, AD (MIM#104100), Erythrokeratodermia variabilis et progressiva 3, AD (MIM#617525); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Marked gene: ENG as ready
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Classified gene: ENG as Green List (high evidence)
Bleeding and Platelet Disorders v0.65 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.64 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Review for gene: ENG was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 FAM83G Ain Roesley gene: FAM83G was added
gene: FAM83G was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature
Mode of inheritance for gene: FAM83G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM83G were set to PMID: 29138053
Phenotypes for gene: FAM83G were set to Palmoplantar keratoderma, curly scalp hair and toenail dystrophy
Penetrance for gene: FAM83G were set to unknown
Review for gene: FAM83G was set to RED
Added comment: PMID: 29138053;
- 2 siblings born of consanguineous family presented with palmoplantar keratoderma and exuberant curly scalp hair
- progressive development of yellowish thickened scaly skin affecting the palms and soles since 2 years of age, and toenail dystrophy in their teenage years
> homozygous for a missense p.(Ala34Glu)
Sources: Literature
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 ENPP1 Ain Roesley reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24075184, 32598042; Phenotypes: Cole disease (MIM#615522); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and Porokeratosis v0.82 ELOVL4 Ain Roesley gene: ELOVL4 was added
gene: ELOVL4 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELOVL4 were set to 22100072; 24571530
Phenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)
Penetrance for gene: ELOVL4 were set to unknown
Review for gene: ELOVL4 was set to GREEN
Added comment: PMID: 22100072;
- 1x proband born of consanguineous parents with congenital ichthyosis, profound developmental delay, recalcitrant seizures, severe hypertonia in the upper and lower extremities
> homozygous for a nonsense variant

- 1x proband born of consanguineous parents with congenital ichthyosis, myoclonic seizures, profound motor delay
> homozygous for a frameshift

PMID: 24571530;
- 1x consanguineous family with 3 affecteds with congenital ichthyosis
- Intellectual disability and spastic quadriplegia were observed only in 1 of the patients
> homozygous for a nonsense
Sources: Literature
Mendeliome v0.3748 LONP2 Naomi Baker reviewed gene: LONP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 CAST Ain Roesley reviewed gene: CAST: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683118, 31392520, 30656735, 28851602; Phenotypes: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM#616295); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 CARD14 Ain Roesley reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22703878, 27760266; Phenotypes: Pityriasis rubra pilaris (MIM#173200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and Porokeratosis v0.82 ABCA12 Ain Roesley reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 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
Early-onset Dementia v0.57 CYLD Bryony Thompson Classified gene: CYLD as Amber List (moderate evidence)
Early-onset Dementia v0.57 CYLD Bryony Thompson Gene: cyld has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.56 CYLD Bryony Thompson reviewed gene: CYLD: Rating: AMBER; Mode of pathogenicity: None; Publications: 32666117, 32666099, 32185393; Phenotypes: frontotemporal dementia, amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.8 AAGAB Ain Roesley reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30451279, 26608363; Phenotypes: Keratoderma, palmoplantar, punctate type IA (MIM#148600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Bleeding and Platelet Disorders v0.63 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.62 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIAPH1 were set to 26912466; 27808407]
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Review for gene: DIAPH1 was set to GREEN
Added comment: At least four unrelated families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Marked gene: CYCS as ready
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Classified gene: CYCS as Green List (high evidence)
Bleeding and Platelet Disorders v0.61 CYCS Zornitza Stark Gene: cycs has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.60 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYCS were set to 24326104; 18345000; 30051457
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM# 612004
Review for gene: CYCS was set to GREEN
Added comment: At least three families reported.
Sources: Expert list
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Marked gene: COL5A2 as ready
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.59 COL5A2 Zornitza Stark Phenotypes for gene: COL5A2 were changed from to Ehlers-Danlos syndrome, classic type, 2, MIM# 130010
Bleeding and Platelet Disorders v0.58 COL5A2 Zornitza Stark Mode of inheritance for gene: COL5A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.57 COL5A2 Zornitza Stark Classified gene: COL5A2 as Amber List (moderate evidence)
Bleeding and Platelet Disorders v0.57 COL5A2 Zornitza Stark Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Bleeding and Platelet Disorders v0.56 COL5A2 Zornitza Stark reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, classic type, 2, MIM# 130010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v0.56 COL5A1 Zornitza Stark Marked gene: COL5A1 as ready