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Angelman Rett like syndromes v1.11 SLC35F1 Zornitza Stark Classified gene: SLC35F1 as Amber List (moderate evidence)
Angelman Rett like syndromes v1.11 SLC35F1 Zornitza Stark Gene: slc35f1 has been classified as Amber List (Moderate Evidence).
Angelman Rett like syndromes v1.10 SLC35F1 Zornitza Stark edited their review of gene: SLC35F1: Added comment: Likely second individual identified internally at VCGS, AS/Rett-like phenotype and de novo Gly226Arg variant.; Changed rating: AMBER
Angelman Rett like syndromes v1.10 MECP2 Zornitza Stark changed review comment from: Well established gene-disease association, XLD.; to: Well established gene-disease association, XLD.
Angelman Rett like syndromes v1.10 IQSEC2 Ain Roesley Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Angelman Rett like syndromes v1.9 ATRX Zornitza Stark edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980
Angelman Rett like syndromes v1.9 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980
Angelman Rett like syndromes v1.8 UBE3C Zornitza Stark Phenotypes for gene: UBE3C were changed from Neurodevelopmental disorder, MONDO:0700092, UBE3C-related to Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270
Angelman Rett like syndromes v1.7 UBE3C Zornitza Stark edited their review of gene: UBE3C: Changed phenotypes: Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270
Angelman Rett like syndromes v1.7 HECTD4 Zornitza Stark Phenotypes for gene: HECTD4 were changed from Neurodevelopmental disorder, MONDO:0700092, HECTD4-related to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark edited their review of gene: HECTD4: Changed phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Marked gene: HECTD4 as ready
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Classified gene: HECTD4 as Green List (high evidence)
Angelman Rett like syndromes v1.6 HECTD4 Zornitza Stark Gene: hectd4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.5 HECTD4 Zornitza Stark gene: HECTD4 was added
gene: HECTD4 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder, MONDO:0700092, HECTD4-related
Review for gene: HECTD4 was set to GREEN
Added comment: 7 patients/5 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in HECTD4. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Marked gene: UBE3C as ready
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Classified gene: UBE3C as Green List (high evidence)
Angelman Rett like syndromes v1.4 UBE3C Zornitza Stark Gene: ube3c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v1.3 UBE3C Zornitza Stark gene: UBE3C was added
gene: UBE3C was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: UBE3C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBE3C were set to Neurodevelopmental disorder, MONDO:0700092, UBE3C-related
Review for gene: UBE3C was set to GREEN
Added comment: 3 patients/2 families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. WES found bi-allelic variants in UBE3C. The RNA studies in some patients with LoF variants provided evidence for the LoF effect.
Sources: Literature
Angelman Rett like syndromes v1.2 ACTL6B Zornitza Stark Mode of inheritance for gene: ACTL6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v1.1 ACTL6B Zornitza Stark edited their review of gene: ACTL6B: Changed phenotypes: Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v1.1 SLC35F1 Zornitza Stark Marked gene: SLC35F1 as ready
Angelman Rett like syndromes v1.1 SLC35F1 Zornitza Stark Gene: slc35f1 has been classified as Red List (Low Evidence).
Angelman Rett like syndromes v1.1 SLC35F1 Zornitza Stark gene: SLC35F1 was added
gene: SLC35F1 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC35F1 were set to 33821533
Phenotypes for gene: SLC35F1 were set to Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome
Review for gene: SLC35F1 was set to RED
Added comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.

Global developmental delay, generalized tonic andtonic–clonic seizure, never acquired independent walking and developed spastictetraplegia in adulthood and limited speech

No functional data
Sources: Literature
Angelman Rett like syndromes v1.0 Zornitza Stark promoted panel to version 1.0
Angelman Rett like syndromes v0.95 SYT1 Zornitza Stark Marked gene: SYT1 as ready
Angelman Rett like syndromes v0.95 SYT1 Zornitza Stark Gene: syt1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.95 SYT1 Zornitza Stark Phenotypes for gene: SYT1 were changed from to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864
Angelman Rett like syndromes v0.94 SYT1 Zornitza Stark Publications for gene: SYT1 were set to
Angelman Rett like syndromes v0.93 SYT1 Zornitza Stark Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.92 SYT1 Zornitza Stark reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.92 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Angelman Rett like syndromes v0.92 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.92 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Angelman Rett like syndromes v0.91 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.90 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.90 UBTF Zornitza Stark Marked gene: UBTF as ready
Angelman Rett like syndromes v0.90 UBTF Zornitza Stark Gene: ubtf has been classified as Amber List (Moderate Evidence).
Angelman Rett like syndromes v0.90 UBTF Zornitza Stark Phenotypes for gene: UBTF were changed from to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701
Angelman Rett like syndromes v0.89 UBTF Zornitza Stark Publications for gene: UBTF were set to
Angelman Rett like syndromes v0.88 UBTF Zornitza Stark Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.87 UBTF Zornitza Stark Classified gene: UBTF as Amber List (moderate evidence)
Angelman Rett like syndromes v0.87 UBTF Zornitza Stark Gene: ubtf has been classified as Amber List (Moderate Evidence).
Angelman Rett like syndromes v0.86 UBTF Zornitza Stark reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: None
Angelman Rett like syndromes v0.86 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Angelman Rett like syndromes v0.86 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.86 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Angelman Rett like syndromes v0.85 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Angelman Rett like syndromes v0.84 ZEB2 Zornitza Stark Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.83 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Angelman Rett like syndromes v0.83 ZEB2 Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.83 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Angelman Rett like syndromes v0.83 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.83 SLC9A6 Zornitza Stark Marked gene: SLC9A6 as ready
Angelman Rett like syndromes v0.83 SLC9A6 Zornitza Stark Gene: slc9a6 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.83 SLC9A6 Zornitza Stark Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278
Angelman Rett like syndromes v0.82 SLC9A6 Zornitza Stark Publications for gene: SLC9A6 were set to
Angelman Rett like syndromes v0.81 SLC9A6 Zornitza Stark Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Angelman Rett like syndromes v0.80 SLC9A6 Zornitza Stark reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark changed review comment from: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.

Well established gene-disease association, deletions are common.; to: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.

Well established gene-disease association, deletions are common.

Multiple individuals reported in Rett-like cohorts, PMID 30842224.
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark edited their review of gene: SHANK3: Changed publications: 30842224, 16284256, 17173049, 20186804, 22892527
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark edited their review of gene: SHANK3: Changed publications: 30842224
Angelman Rett like syndromes v0.80 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome, MIM# 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Gene: shank3 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Tag SV/CNV tag was added to gene: SHANK3.
Angelman Rett like syndromes v0.79 SHANK3 Zornitza Stark Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232
Angelman Rett like syndromes v0.78 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to
Angelman Rett like syndromes v0.77 SHANK3 Zornitza Stark Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.76 SHANK3 Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.76 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Angelman Rett like syndromes v0.76 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.76 SATB2 Zornitza Stark Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147
Angelman Rett like syndromes v0.75 SATB2 Zornitza Stark Publications for gene: SATB2 were set to
Angelman Rett like syndromes v0.74 SATB2 Zornitza Stark Mode of inheritance for gene: SATB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.73 SATB2 Zornitza Stark changed review comment from: Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor.

Over 30 unrelated individuals reported.; to: Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor.

Over 100 unrelated individuals reported.
Angelman Rett like syndromes v0.73 SATB2 Zornitza Stark reviewed gene: SATB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29023086, 28151491, 32446642; Phenotypes: Glass syndrome, MIM# 612313, MONDO:0100147; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.73 ATRX Zornitza Stark Marked gene: ATRX as ready
Angelman Rett like syndromes v0.73 ATRX Zornitza Stark Gene: atrx has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.73 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580
Angelman Rett like syndromes v0.72 ATRX Zornitza Stark Publications for gene: ATRX were set to
Angelman Rett like syndromes v0.71 ATRX Zornitza Stark Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.70 ATRX Zornitza Stark edited their review of gene: ATRX: Changed publications: 20301622
Angelman Rett like syndromes v0.70 ATRX Zornitza Stark reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.70 MEF2C Zornitza Stark Marked gene: MEF2C as ready
Angelman Rett like syndromes v0.70 MEF2C Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.70 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; MONDO:0013266
Angelman Rett like syndromes v0.69 MEF2C Zornitza Stark Phenotypes for gene: MEF2C were changed from to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443
Angelman Rett like syndromes v0.68 MEF2C Zornitza Stark Publications for gene: MEF2C were set to
Angelman Rett like syndromes v0.67 MEF2C Zornitza Stark Tag SV/CNV tag was added to gene: MEF2C.
Tag 5'UTR tag was added to gene: MEF2C.
Angelman Rett like syndromes v0.67 MEF2C Zornitza Stark Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.66 MEF2C Zornitza Stark reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19876902, 19471318, 19592390, 19592390, 20513142, 34055696, 34022131; Phenotypes: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; MONDO:0010726
Angelman Rett like syndromes v0.65 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.64 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, MONDO:0010726; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Tag SV/CNV tag was added to gene: MBD5.
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Marked gene: MBD5 as ready
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Gene: mbd5 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.64 MBD5 Zornitza Stark Phenotypes for gene: MBD5 were changed from to Mental retardation, autosomal dominant 1, MIM# 156200; MONDO:0007974
Angelman Rett like syndromes v0.63 MBD5 Zornitza Stark Publications for gene: MBD5 were set to
Angelman Rett like syndromes v0.62 MBD5 Zornitza Stark Mode of inheritance for gene: MBD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.61 MBD5 Zornitza Stark edited their review of gene: MBD5: Changed phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200, MONDO:0007974
Angelman Rett like syndromes v0.61 MBD5 Zornitza Stark reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 18812405, 21981781, 23708187, 22726846, 33912662; Phenotypes: Mental retardation, autosomal dominant 1, MIM# 156200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.61 IQSEC2 Zornitza Stark Marked gene: IQSEC2 as ready
Angelman Rett like syndromes v0.61 IQSEC2 Zornitza Stark Gene: iqsec2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.61 IQSEC2 Zornitza Stark Phenotypes for gene: IQSEC2 were changed from to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347
Angelman Rett like syndromes v0.60 IQSEC2 Zornitza Stark Publications for gene: IQSEC2 were set to
Angelman Rett like syndromes v0.59 IQSEC2 Zornitza Stark Mode of inheritance for gene: IQSEC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.58 IQSEC2 Zornitza Stark reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33368194, 20473311, 23674175; Phenotypes: Mental retardation, X-linked 1/78, MIM# 309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Marked gene: EHMT1 as ready
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Gene: ehmt1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Tag SV/CNV tag was added to gene: EHMT1.
Angelman Rett like syndromes v0.58 EHMT1 Zornitza Stark Phenotypes for gene: EHMT1 were changed from to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407
Angelman Rett like syndromes v0.57 EHMT1 Zornitza Stark Publications for gene: EHMT1 were set to
Angelman Rett like syndromes v0.56 EHMT1 Zornitza Stark Mode of inheritance for gene: EHMT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.55 EHMT1 Zornitza Stark reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826528, 19264732, 19293338, 22670143, 30448833; Phenotypes: Kleefstra syndrome 1, MIM# 610253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark changed review comment from: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083.

Both LoF and GoF postulated.; to: Epileptic-dyskinetic encephalopathy with both neurodevelopmental and neurodegenerative features, microcephaly reported. Diagnosis made in Rett-like patient, PMID 31893083.

Both LoF and GoF postulated. More than 20 unrelated families.
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark Marked gene: EEF1A2 as ready
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark Gene: eef1a2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.55 EEF1A2 Zornitza Stark Phenotypes for gene: EEF1A2 were changed from to Mental retardation, autosomal dominant 38, MIM# 616393; MONDO:0014617; Developmental and epileptic encephalopathy 33, MIM# 616409; MONDO:0014625
Angelman Rett like syndromes v0.54 EEF1A2 Zornitza Stark Publications for gene: EEF1A2 were set to
Angelman Rett like syndromes v0.53 EEF1A2 Zornitza Stark Mode of inheritance for gene: EEF1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.52 EEF1A2 Zornitza Stark edited their review of gene: EEF1A2: Changed phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, MONDO:0014617, Developmental and epileptic encephalopathy 33, MIM# 616409, MONDO:0014625
Angelman Rett like syndromes v0.52 EEF1A2 Zornitza Stark reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24697219, 32196822, 32160274, 32062104, 31893083; Phenotypes: Mental retardation, autosomal dominant 38, MIM# 616393, Developmental and epileptic encephalopathy 33, MIM# 616409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Tag SV/CNV tag was added to gene: KANSL1.
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.52 KANSL1 Zornitza Stark Phenotypes for gene: KANSL1 were changed from to Koolen-De Vries syndrome, MIM# 610443; MONDO:0012496
Angelman Rett like syndromes v0.51 KANSL1 Zornitza Stark Publications for gene: KANSL1 were set to
Angelman Rett like syndromes v0.50 KANSL1 Zornitza Stark Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.49 KANSL1 Zornitza Stark reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19447831, 22544367, 22544363; Phenotypes: Koolen-De Vries syndrome, MIM# 610443, MONDO:0012496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Marked gene: KCNA2 as ready
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Gene: kcna2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.49 KCNA2 Zornitza Stark Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366
Angelman Rett like syndromes v0.48 KCNA2 Zornitza Stark Publications for gene: KCNA2 were set to
Angelman Rett like syndromes v0.47 KCNA2 Zornitza Stark Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.46 KCNA2 Zornitza Stark reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392, 27062609; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.46 ADSL Zornitza Stark Marked gene: ADSL as ready
Angelman Rett like syndromes v0.46 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.46 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency, MIM# 103050
Angelman Rett like syndromes v0.45 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.44 ADSL Zornitza Stark reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenylosuccinase deficiency, MIM# 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Marked gene: ACTL6B as ready
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Classified gene: ACTL6B as Green List (high evidence)
Angelman Rett like syndromes v0.44 ACTL6B Zornitza Stark Gene: actl6b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.43 ACTL6B Zornitza Stark gene: ACTL6B was added
gene: ACTL6B was added to Angelman Rett like syndromes. Sources: Expert Review
Mode of inheritance for gene: ACTL6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTL6B were set to 31031012
Phenotypes for gene: ACTL6B were set to Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470
Review for gene: ACTL6B was set to GREEN
Added comment: Ten individuals reported with de novo heterozygous variants and intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). Nine of these ten unrelated individuals had the identical de novo c.1027G>A (p.Gly343Arg) variant.

Note bi-allelic variants cause a neurodevelopmental disorder characterised by epilepsy and spasticity.
Sources: Expert Review
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Marked gene: NTNG2 as ready
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Classified gene: NTNG2 as Green List (high evidence)
Angelman Rett like syndromes v0.42 NTNG2 Zornitza Stark Gene: ntng2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.41 NTNG2 Zornitza Stark gene: NTNG2 was added
gene: NTNG2 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31668703; 31692205
Phenotypes for gene: NTNG2 were set to Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718
Review for gene: NTNG2 was set to GREEN
Added comment: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) is an autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia usually with inability to walk, and significant behavioral abnormalities consistent with autism spectrum disorder and reminiscent of Rett syndrome, such as poor communication, stereotypic or repetitive behaviours, hand-wringing, bruxism, and sleep disturbances. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities.

More than 8 families reported.
Sources: Literature
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Marked gene: GRIN2B as ready
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Classified gene: GRIN2B as Green List (high evidence)
Angelman Rett like syndromes v0.40 GRIN2B Zornitza Stark Gene: grin2b has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.39 GRIN2B Zornitza Stark gene: GRIN2B was added
gene: GRIN2B was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRIN2B were set to 31409060; 28734458
Phenotypes for gene: GRIN2B were set to Mental retardation, autosomal dominant 6, MIM# 613970; Developmental and epileptic encephalopathy 27, MIM# 616139
Review for gene: GRIN2B was set to GREEN
Added comment: More than 3 individuals reported as part of Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Classified gene: GABBR2 as Green List (high evidence)
Angelman Rett like syndromes v0.38 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.37 GABBR2 Zornitza Stark gene: GABBR2 was added
gene: GABBR2 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to 28856709; 26740508; 29369404
Phenotypes for gene: GABBR2 were set to Neurodevelopmental disorder with poor language and loss of hand skills, MIM# 617903
Review for gene: GABBR2 was set to GREEN
Added comment: NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome.

At least 5 unrelated individuals reported.
Sources: Expert list
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Classified gene: SMC1A as Green List (high evidence)
Angelman Rett like syndromes v0.36 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.35 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: SMC1A was set to Other
Publications for gene: SMC1A were set to 29023665; 31409060
Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590; Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Review for gene: SMC1A was set to GREEN
Added comment: At least 4 unrelated individuals identified in Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Classified gene: WDR45 as Green List (high evidence)
Angelman Rett like syndromes v0.34 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.33 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: WDR45 was set to Other
Publications for gene: WDR45 were set to 26790960; 31409060
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: WDR45 was set to GREEN
Added comment: XLD.

Multiple individuals reported as part of Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Classified gene: SYNGAP1 as Green List (high evidence)
Angelman Rett like syndromes v0.32 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.31 SYNGAP1 Zornitza Stark gene: SYNGAP1 was added
gene: SYNGAP1 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYNGAP1 were set to 31105003
Phenotypes for gene: SYNGAP1 were set to Mental retardation, autosomal dominant 5, MIM# 612621
Review for gene: SYNGAP1 was set to GREEN
Added comment: More than 3 unrelated individuals reported as part of Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Classified gene: KCNQ2 as Green List (high evidence)
Angelman Rett like syndromes v0.30 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.29 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ2 were set to 31105003; 33134511
Phenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7, MIM# 613720
Review for gene: KCNQ2 was set to GREEN
Added comment: More than 3 unrelated individuals identified as part of Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Marked gene: SCN2A as ready
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Classified gene: SCN2A as Green List (high evidence)
Angelman Rett like syndromes v0.28 SCN2A Zornitza Stark Gene: scn2a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.27 SCN2A Zornitza Stark gene: SCN2A was added
gene: SCN2A was added to Angelman Rett like syndromes. Sources: Expert list
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN2A were set to 31105003
Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721; Rett-like
Review for gene: SCN2A was set to GREEN
Added comment: More than 5 unrelated individuals reported in Rett-like cohorts.
Sources: Expert list
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Classified gene: KIF1A as Green List (high evidence)
Angelman Rett like syndromes v0.26 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.25 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 31512412; 32652677
Phenotypes for gene: KIF1A were set to NESCAV syndrome, MIM# 614255; Rett-like syndrome
Review for gene: KIF1A was set to GREEN
Added comment: Individuals identified in Rett and Rett-like cohorts.
Sources: Literature
Angelman Rett like syndromes v0.24 STXBP1 Zornitza Stark Marked gene: STXBP1 as ready
Angelman Rett like syndromes v0.24 STXBP1 Zornitza Stark Gene: stxbp1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.24 STXBP1 Zornitza Stark Phenotypes for gene: STXBP1 were changed from to Developmental and epileptic encephalopathy 4, MIM# 612164
Angelman Rett like syndromes v0.23 STXBP1 Zornitza Stark Publications for gene: STXBP1 were set to
Angelman Rett like syndromes v0.22 STXBP1 Zornitza Stark Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.21 STXBP1 Zornitza Stark reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31344879; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.21 UBE3A Zornitza Stark Tag SV/CNV tag was added to gene: UBE3A.
Angelman Rett like syndromes v0.21 UBE3A Zornitza Stark Phenotypes for gene: UBE3A were changed from Angelman syndrome, MIM#105830 to Angelman syndrome, MIM#105830
Angelman Rett like syndromes v0.21 UBE3A Zornitza Stark Phenotypes for gene: UBE3A were changed from to Angelman syndrome, MIM#105830
Angelman Rett like syndromes v0.20 UBE3A Zornitza Stark Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Angelman Rett like syndromes v0.19 UBE3A Zornitza Stark reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angelman syndrome, MIM#105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Angelman Rett like syndromes v0.19 HECW2 Zornitza Stark Phenotypes for gene: HECW2 were changed from intellectual disability; epilepsy; regression; microcephaly to Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; intellectual disability; epilepsy; regression; microcephaly
Angelman Rett like syndromes v0.18 HECW2 Zornitza Stark Publications for gene: HECW2 were set to PMID: 29395664
Angelman Rett like syndromes v0.17 HECW2 Zornitza Stark Mode of pathogenicity for gene: HECW2 was changed from None to Other
Angelman Rett like syndromes v0.16 HECW2 Zornitza Stark reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29807643, 29395664, 27334371, 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.16 HECW2 Zornitza Stark Classified gene: HECW2 as Green List (high evidence)
Angelman Rett like syndromes v0.16 HECW2 Zornitza Stark Gene: hecw2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.15 HECW2 Natasha Brown Marked gene: HECW2 as ready
Angelman Rett like syndromes v0.15 HECW2 Natasha Brown Gene: hecw2 has been classified as Red List (Low Evidence).
Angelman Rett like syndromes v0.15 HECW2 Natasha Brown gene: HECW2 was added
gene: HECW2 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HECW2 were set to PMID: 29395664
Phenotypes for gene: HECW2 were set to intellectual disability; epilepsy; regression; microcephaly
Penetrance for gene: HECW2 were set to Complete
Review for gene: HECW2 was set to GREEN
Added comment: Sources: Literature
Angelman Rett like syndromes v0.14 FOXG1 Zornitza Stark Marked gene: FOXG1 as ready
Angelman Rett like syndromes v0.14 FOXG1 Zornitza Stark Gene: foxg1 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.14 FOXG1 Zornitza Stark Phenotypes for gene: FOXG1 were changed from to Rett syndrome, congenital variant, MIM# 613454
Angelman Rett like syndromes v0.13 FOXG1 Zornitza Stark Publications for gene: FOXG1 were set to
Angelman Rett like syndromes v0.12 FOXG1 Zornitza Stark Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.11 FOXG1 Zornitza Stark reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21441262, 19564653, 19578037; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.11 HERC2 Zornitza Stark Marked gene: HERC2 as ready
Angelman Rett like syndromes v0.11 HERC2 Zornitza Stark Gene: herc2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.11 HERC2 Zornitza Stark Phenotypes for gene: HERC2 were changed from to Mental retardation, autosomal recessive 38 (MIM 615516)
Angelman Rett like syndromes v0.10 HERC2 Zornitza Stark Publications for gene: HERC2 were set to
Angelman Rett like syndromes v0.9 HERC2 Zornitza Stark Mode of inheritance for gene: HERC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.8 HERC2 Zornitza Stark reviewed gene: HERC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23065719, 23243086, 30902390, 32571899, 27848944, 26077850, 27759030; Phenotypes: Mental retardation, autosomal recessive 38 (MIM 615516); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Marked gene: CDKL5 as ready
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Gene: cdkl5 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.8 CDKL5 Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Epileptic encephalopathy, early infantile, 2, MIM 300672
Angelman Rett like syndromes v0.7 CDKL5 Zornitza Stark Publications for gene: CDKL5 were set to
Angelman Rett like syndromes v0.6 CDKL5 Zornitza Stark Mode of inheritance for gene: CDKL5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.5 CDKL5 Zornitza Stark reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27080038, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 2, MIM 300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.5 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Angelman Rett like syndromes v0.4 Zornitza Stark Panel name changed from Angelman Rett like syndromes_VCGS to Angelman Rett like syndromes
Panel types changed to Victorian Clinical Genetics Services
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome (OMIM # 615485) to Bainbridge-Ropers syndrome (OMIM # 615485)
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.3 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Angelman Rett like syndromes v0.2 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Angelman Rett like syndromes v0.1 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.0 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Angelman Rett like syndromes v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZEB2 was set to Unknown
Angelman Rett like syndromes v0.0 UBTF Zornitza Stark gene: UBTF was added
gene: UBTF was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBTF was set to Unknown
Angelman Rett like syndromes v0.0 UBE3A Zornitza Stark gene: UBE3A was added
gene: UBE3A was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBE3A was set to Unknown
Angelman Rett like syndromes v0.0 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCF4 was set to Unknown
Angelman Rett like syndromes v0.0 SYT1 Zornitza Stark gene: SYT1 was added
gene: SYT1 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SYT1 was set to Unknown
Angelman Rett like syndromes v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STXBP1 was set to Unknown
Angelman Rett like syndromes v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC9A6 was set to Unknown
Angelman Rett like syndromes v0.0 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHANK3 was set to Unknown
Angelman Rett like syndromes v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SATB2 was set to Unknown
Angelman Rett like syndromes v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MEF2C was set to Unknown
Angelman Rett like syndromes v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECP2 was set to Unknown
Angelman Rett like syndromes v0.0 MBD5 Zornitza Stark gene: MBD5 was added
gene: MBD5 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MBD5 was set to Unknown
Angelman Rett like syndromes v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNA2 was set to Unknown
Angelman Rett like syndromes v0.0 KANSL1 Zornitza Stark gene: KANSL1 was added
gene: KANSL1 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KANSL1 was set to Unknown
Angelman Rett like syndromes v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IQSEC2 was set to Unknown
Angelman Rett like syndromes v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HERC2 was set to Unknown
Angelman Rett like syndromes v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXG1 was set to Unknown
Angelman Rett like syndromes v0.0 EHMT1 Zornitza Stark gene: EHMT1 was added
gene: EHMT1 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EHMT1 was set to Unknown
Angelman Rett like syndromes v0.0 EEF1A2 Zornitza Stark gene: EEF1A2 was added
gene: EEF1A2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EEF1A2 was set to Unknown
Angelman Rett like syndromes v0.0 CDKL5 Zornitza Stark gene: CDKL5 was added
gene: CDKL5 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDKL5 was set to Unknown
Angelman Rett like syndromes v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATRX was set to Unknown
Angelman Rett like syndromes v0.0 ASXL3 Zornitza Stark gene: ASXL3 was added
gene: ASXL3 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASXL3 was set to Unknown
Angelman Rett like syndromes v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADSL was set to Unknown
Angelman Rett like syndromes v0.0 Zornitza Stark Added panel Angelman Rett like syndromes_VCGS