PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
113 actions
Genomic newborn screening: BabyScreen+ v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome
Genomic newborn screening: BabyScreen+ v0.0 BAAT Zornitza Stark gene: BAAT was added
gene: BAAT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BAAT were set to Bile acid amidation defect
Genomic newborn screening: BabyScreen+ v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-Plus syndrome
Genomic newborn screening: BabyScreen+ v0.0 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
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, MIM#304800
Genomic newborn screening: BabyScreen+ v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease
Genomic newborn screening: BabyScreen+ v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C 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 disease, MIM# 309400
Genomic newborn screening: BabyScreen+ v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
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, MIM#267300
Genomic newborn screening: BabyScreen+ v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722
Genomic newborn screening: BabyScreen+ v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ATP2B2 Zornitza Stark gene: ATP2B2 was added
gene: ATP2B2 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset
Genomic newborn screening: BabyScreen+ v0.0 ATP2A1 Zornitza Stark gene: ATP2A1 was added
gene: ATP2A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP2A1 were set to Brody myopathy
Genomic newborn screening: BabyScreen+ v0.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A2 were set to Hemiplegic migraine
Genomic newborn screening: BabyScreen+ v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia
Genomic newborn screening: BabyScreen+ v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, MIM#215700
Genomic newborn screening: BabyScreen+ v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease
Genomic newborn screening: BabyScreen+ v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900
Genomic newborn screening: BabyScreen+ v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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)
Genomic newborn screening: BabyScreen+ v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
Genomic newborn screening: BabyScreen+ v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718
Genomic newborn screening: BabyScreen+ v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia
Genomic newborn screening: BabyScreen+ v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Arginase deficiency, MIM#207800
Genomic newborn screening: BabyScreen+ v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly
Genomic newborn screening: BabyScreen+ v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C 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, MIM# 300068
Genomic newborn screening: BabyScreen+ v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 APRT Zornitza Stark gene: APRT was added
gene: APRT was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM# 614723
Genomic newborn screening: BabyScreen+ v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800
Genomic newborn screening: BabyScreen+ v0.0 APOB Zornitza Stark gene: APOB was added
gene: APOB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Apolipoprotein B deficiency
Genomic newborn screening: BabyScreen+ v0.0 APC Zornitza Stark gene: APC was added
gene: APC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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; Adenomatous polyposis coli, attenuated
Genomic newborn screening: BabyScreen+ v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to 31915823; 32979048; 19559397; 25496299; 21937992; 28464862; 29096665
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Genomic newborn screening: BabyScreen+ v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744
Genomic newborn screening: BabyScreen+ v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 24700674; 32979048; 32166732; 32171285; 22290197; 21620353; 31525725; 24781758
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Genomic newborn screening: BabyScreen+ v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2
Genomic newborn screening: BabyScreen+ v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome
Genomic newborn screening: BabyScreen+ v0.0 ANO10 Zornitza Stark gene: ANO10 was added
gene: ANO10 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2
Genomic newborn screening: BabyScreen+ v0.0 ANKH Zornitza Stark gene: ANKH was added
gene: ANKH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANKH were set to Craniometaphyseal dysplasia
Genomic newborn screening: BabyScreen+ v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Green
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK2 were set to Complex neurodevelopmental disorder, MONDO:0100038
Genomic newborn screening: BabyScreen+ v0.0 ANK1 Zornitza Stark gene: ANK1 was added
gene: ANK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ANK1 were set to Spherocytosis
Genomic newborn screening: BabyScreen+ v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Hyperglycinaemia, non-ketotic
Genomic newborn screening: BabyScreen+ v0.0 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
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, MIM#618882
Genomic newborn screening: BabyScreen+ v0.0 AMELX Zornitza Stark gene: AMELX was added
gene: AMELX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Amyotrophic lateral sclerosis
Genomic newborn screening: BabyScreen+ v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, MIM#241500
Genomic newborn screening: BabyScreen+ v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome
Genomic newborn screening: BabyScreen+ v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 26453364; 25966638; 28932688
Phenotypes for gene: ALG9 were set to Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Congenital disorder of glycosylation, type Il, MIM#608776
Genomic newborn screening: BabyScreen+ v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALG14 Zornitza Stark gene: ALG14 was added
gene: ALG14 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG14 were set to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227
Genomic newborn screening: BabyScreen+ v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, MIM#229600
Genomic newborn screening: BabyScreen+ v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to gNBS. Sources: Expert list,BeginNGS,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, MIM# 266100
Genomic newborn screening: BabyScreen+ v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
Genomic newborn screening: BabyScreen+ v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ALB Zornitza Stark gene: ALB was added
gene: ALB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALB were set to Analbuminemia
Genomic newborn screening: BabyScreen+ v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, MIM# 267500
Genomic newborn screening: BabyScreen+ v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3
Genomic newborn screening: BabyScreen+ v0.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: AHCY was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752
Genomic newborn screening: BabyScreen+ v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1
Genomic newborn screening: BabyScreen+ v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial, MIM#615120
Genomic newborn screening: BabyScreen+ v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, MIM#232400
Genomic newborn screening: BabyScreen+ v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
Genomic newborn screening: BabyScreen+ v0.0 ADK Zornitza Stark gene: ADK was added
gene: ADK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to gNBS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C
Genomic newborn screening: BabyScreen+ v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal
Genomic newborn screening: BabyScreen+ v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria
Genomic newborn screening: BabyScreen+ v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1
Genomic newborn screening: BabyScreen+ v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM#274150
Genomic newborn screening: BabyScreen+ v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
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, MIM#102700
Genomic newborn screening: BabyScreen+ v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
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, MIM#600376
Genomic newborn screening: BabyScreen+ v0.0 ACVR1 Zornitza Stark gene: ACVR1 was added
gene: ACVR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ACTN4 Zornitza Stark gene: ACTN4 was added
gene: ACTN4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia
Genomic newborn screening: BabyScreen+ v0.0 ACTG2 Zornitza Stark gene: ACTG2 was added
gene: ACTG2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTG1 were set to Baraitser-Winter syndrome; Deafness, autosomal dominant
Genomic newborn screening: BabyScreen+ v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis
Genomic newborn screening: BabyScreen+ v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750
Genomic newborn screening: BabyScreen+ v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, MIM#201475
Genomic newborn screening: BabyScreen+ v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
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, MIM#201450
Genomic newborn screening: BabyScreen+ v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
Genomic newborn screening: BabyScreen+ v0.0 ACAD8 Zornitza Stark gene: ACAD8 was added
gene: ACAD8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency
Genomic newborn screening: BabyScreen+ v0.0 ABCG5 Zornitza Stark gene: ABCG5 was added
gene: ABCG5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolemia
Genomic newborn screening: BabyScreen+ v0.0 ABCD4 Zornitza Stark gene: ABCD4 was added
gene: ABCD4 was added to gNBS. Sources: BeginNGS,Expert Review Green
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCD4 were set to MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE
Genomic newborn screening: BabyScreen+ v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, MIM#256450
Genomic newborn screening: BabyScreen+ v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, #MIM614473
Genomic newborn screening: BabyScreen+ v0.0 ABCC2 Zornitza Stark gene: ABCC2 was added
gene: ABCC2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene
Mode of inheritance for gene: ABCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC2 were set to 11477083; 30344695
Phenotypes for gene: ABCC2 were set to Dubin-Johnson syndrome, MIM# 237500
Genomic newborn screening: BabyScreen+ v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Stargardt disease
Genomic newborn screening: BabyScreen+ v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive
Genomic newborn screening: BabyScreen+ v0.0 AARS Zornitza Stark gene: AARS was added
gene: AARS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome
Genomic newborn screening: BabyScreen+ v0.0 Zornitza Stark Added panel gNBS