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Intellectual disability syndromic and non-syndromic v0.5459 TUBG1 Zornitza Stark Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5458 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Intellectual disability syndromic and non-syndromic v0.5458 TWIST1 Zornitza Stark Gene: twist1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5458 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from to Saethre-Chotzen syndrome MONDO:0007042
Intellectual disability syndromic and non-syndromic v0.5457 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Intellectual disability syndromic and non-syndromic v0.5456 TWIST1 Zornitza Stark Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5455 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Intellectual disability syndromic and non-syndromic v0.5455 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5455 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Intellectual disability syndromic and non-syndromic v0.5454 UBA5 Zornitza Stark Publications for gene: UBA5 were set to 33811063
Intellectual disability syndromic and non-syndromic v0.5453 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Intellectual disability syndromic and non-syndromic v0.5452 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5451 UBE3A Zornitza Stark Marked gene: UBE3A as ready
Intellectual disability syndromic and non-syndromic v0.5451 UBE3A Zornitza Stark Gene: ube3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5451 UBE3A Zornitza Stark Phenotypes for gene: UBE3A were changed from to Angelman syndrome MONDO:0007113
Intellectual disability syndromic and non-syndromic v0.5450 UBE3A Zornitza Stark Publications for gene: UBE3A were set to
Intellectual disability syndromic and non-syndromic v0.5449 UBE3A Zornitza Stark Mode of inheritance for gene: UBE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.5448 SDHA Zornitza Stark Marked gene: SDHA as ready
Intellectual disability syndromic and non-syndromic v0.5448 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5448 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1 MIM#252011
Intellectual disability syndromic and non-syndromic v0.5447 SDHA Zornitza Stark Publications for gene: SDHA were set to
Intellectual disability syndromic and non-syndromic v0.5446 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5445 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Intellectual disability syndromic and non-syndromic v0.5445 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5445 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542
Intellectual disability syndromic and non-syndromic v0.5444 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Intellectual disability syndromic and non-syndromic v0.5443 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5442 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Intellectual disability syndromic and non-syndromic v0.5442 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5442 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from to Cohen syndrome MONDO:0008999
Intellectual disability syndromic and non-syndromic v0.5441 VPS13B Zornitza Stark Publications for gene: VPS13B were set to
Intellectual disability syndromic and non-syndromic v0.5440 VPS13B Zornitza Stark Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1173 SEMA3E Lucy Spencer reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029, 35628442, 32441320; Phenotypes: CHARGE syndrome MONDO:0008965, SEMA3E-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.144 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Neurodevelopmental disorder MONDO#0700092, SCAF4-related to Fliedner-Zweier syndrome, MIM#620511
Fetal anomalies v1.143 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5439 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Mild intellectual disability; seizures; behavioral abnormalities to Fliedner-Zweier syndrome, MIM#620511
Intellectual disability syndromic and non-syndromic v0.5438 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1917 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Mild intellectual disability; seizures; behavioral abnormalities to Fliedner-Zweier syndrome, MIM#620511
Genetic Epilepsy v0.1916 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1173 SCAF4 Zornitza Stark Phenotypes for gene: SCAF4 were changed from Mild intellectual disability; seizures; behavioral abnormalities to Fliedner-Zweier syndrome, MIM#620511
Mendeliome v1.1172 SCAF4 Zornitza Stark reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fliedner-Zweier syndrome, MIM#620511; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5438 VRK1 Zornitza Stark Marked gene: VRK1 as ready
Intellectual disability syndromic and non-syndromic v0.5438 VRK1 Zornitza Stark Gene: vrk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5438 VRK1 Zornitza Stark Phenotypes for gene: VRK1 were changed from to pontocerebellar hypoplasia type 1A MONDO:0011866
Intellectual disability syndromic and non-syndromic v0.5437 VRK1 Zornitza Stark Publications for gene: VRK1 were set to
Intellectual disability syndromic and non-syndromic v0.5436 VRK1 Zornitza Stark Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5435 WDR45 Zornitza Stark Phenotypes for gene: WDR45 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; neurodegeneration with brain iron accumulation 5 MONDO:0010476
Intellectual disability syndromic and non-syndromic v0.5434 WDR45 Zornitza Stark Publications for gene: WDR45 were set to
Intellectual disability syndromic and non-syndromic v0.5433 WDR45 Zornitza Stark Mode of inheritance for gene: WDR45 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)
Intellectual disability syndromic and non-syndromic v0.5432 WDR73 Zornitza Stark Marked gene: WDR73 as ready
Intellectual disability syndromic and non-syndromic v0.5432 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5432 WDR73 Zornitza Stark Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1 MONDO:0033005
Intellectual disability syndromic and non-syndromic v0.5431 WDR73 Zornitza Stark Publications for gene: WDR73 were set to
Intellectual disability syndromic and non-syndromic v0.5430 WDR73 Zornitza Stark Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5429 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Intellectual disability syndromic and non-syndromic v0.5429 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5429 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Myhre syndrome MIM#139210
Intellectual disability syndromic and non-syndromic v0.5428 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Intellectual disability syndromic and non-syndromic v0.5427 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5426 WWOX Zornitza Stark Marked gene: WWOX as ready
Intellectual disability syndromic and non-syndromic v0.5426 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5426 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from to developmental and epileptic encephalopathy, 28 MONDO:0014533; autosomal recessive spinocerebellar ataxia 12 MONDO:0013687
Intellectual disability syndromic and non-syndromic v0.5425 WWOX Zornitza Stark Publications for gene: WWOX were set to
Intellectual disability syndromic and non-syndromic v0.5424 WWOX Zornitza Stark Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5423 XRCC4 Zornitza Stark Marked gene: XRCC4 as ready
Intellectual disability syndromic and non-syndromic v0.5423 XRCC4 Zornitza Stark Gene: xrcc4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5423 XRCC4 Zornitza Stark Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction MIM#616541, MONDO:0014686
Intellectual disability syndromic and non-syndromic v0.5422 XRCC4 Zornitza Stark Publications for gene: XRCC4 were set to
Intellectual disability syndromic and non-syndromic v0.5421 XRCC4 Zornitza Stark Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5420 TUBB2B Zornitza Stark Marked gene: TUBB2B as ready
Intellectual disability syndromic and non-syndromic v0.5420 TUBB2B Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5420 TUBB2B Zornitza Stark Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7 MIM#610031
Intellectual disability syndromic and non-syndromic v0.5419 TUBB2B Zornitza Stark Publications for gene: TUBB2B were set to
Intellectual disability syndromic and non-syndromic v0.5418 TUBB2B Zornitza Stark Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5417 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Intellectual disability syndromic and non-syndromic v0.5417 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5417 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from to Syndromic X-linked intellectual disability Raymond type MONDO:0010427
Intellectual disability syndromic and non-syndromic v0.5416 ZDHHC9 Zornitza Stark Publications for gene: ZDHHC9 were set to
Intellectual disability syndromic and non-syndromic v0.5415 ZDHHC9 Zornitza Stark Mode of inheritance for gene: ZDHHC9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5414 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Intellectual disability syndromic and non-syndromic v0.5414 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5414 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from to Spastic paraplegia 15, autosomal recessive, MIM# 270700; hereditary spastic paraplegia 15, MONDO:0010044
Intellectual disability syndromic and non-syndromic v0.5413 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Intellectual disability syndromic and non-syndromic v0.5412 ZFYVE26 Zornitza Stark Mode of inheritance for gene: ZFYVE26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5411 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Intellectual disability syndromic and non-syndromic v0.5411 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5411 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from to Holoprosencephaly 5 MONDO:0012322
Intellectual disability syndromic and non-syndromic v0.5410 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Intellectual disability syndromic and non-syndromic v0.5409 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5408 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Intellectual disability syndromic and non-syndromic v0.5408 TSC1 Zornitza Stark Gene: tsc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5408 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from to Tuberous sclerosis MIM#191100
Intellectual disability syndromic and non-syndromic v0.5407 TSC1 Zornitza Stark Publications for gene: TSC1 were set to
Intellectual disability syndromic and non-syndromic v0.5406 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5405 TSC2 Zornitza Stark Marked gene: TSC2 as ready
Intellectual disability syndromic and non-syndromic v0.5405 TSC2 Zornitza Stark Gene: tsc2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5405 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from to Tuberous sclerosis MIM#613254
Intellectual disability syndromic and non-syndromic v0.5404 TSC2 Zornitza Stark Publications for gene: TSC2 were set to
Intellectual disability syndromic and non-syndromic v0.5403 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1172 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 to Krithika Murali (Victorian Clinical Genetics Services) 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Current 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779 Edit; 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779
Mendeliome v1.1171 NR2F2 Zornitza Stark Publications for gene: NR2F2 were set to 24702954; 29478779; 31687637; 27363585; 29222010; 29663647
Mendeliome v1.1170 NR2F2 Zornitza Stark reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37500725; Phenotypes: Syndromic disease, MONDO:0002254, NR2F2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.283 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from 46,XX disorder of sex development (DSD) and congenital heart defects to 46XX sex reversal 5, MIM# 618901
Differences of Sex Development v0.282 NR2F2 Zornitza Stark edited their review of gene: NR2F2: Changed phenotypes: 46XX sex reversal 5, MIM# 618901
Intellectual disability syndromic and non-syndromic v0.5402 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Intellectual disability syndromic and non-syndromic v0.5402 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5402 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features to Syndromic disease, MONDO:0002254, NR2F2-related
Intellectual disability syndromic and non-syndromic v0.5401 NR2F2 Zornitza Stark Publications for gene: NR2F2 were set to 29478779; 29663647
Intellectual disability syndromic and non-syndromic v0.5400 NR2F2 Zornitza Stark Classified gene: NR2F2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5400 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Mendeliome v1.1170 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Ichthyosis (MONDO#0019269), DBR1-related to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510
Ichthyosis and Porokeratosis v1.9 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from Ichthyosis (MONDO#0019269), DBR1-related to Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510
Ichthyosis and Porokeratosis v1.8 DBR1 Zornitza Stark reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279; Phenotypes: Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark Marked gene: TRAC as ready
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark Gene: trac has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.23 TRAC Zornitza Stark gene: TRAC was added
gene: TRAC was added to BabyScreen+ newborn screening. Sources: Expert Review
founder, technically challenging tags were added to gene: TRAC.
Mode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAC were set to 21206088
Phenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Review for gene: TRAC was set to RED
Added comment: Single variant reported to date in 6 patients; 2 unrelated children from consanguineous families of Pakistani descent (PMID: 21206088); 1 non-consanguineous family from North-west India (PMID: 33909184) and 1 consanguineous parents of East Indian (https://lymphosign.com/doi/10.14785/lymphosign-2022-0001)

Also note annotation issues in certain variant curation and annotation tools.
Sources: Expert Review
Mendeliome v1.1169 TRAC Zornitza Stark Tag technically challenging tag was added to gene: TRAC.
Genomic newborn screening: BabyScreen+ v1.22 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.22 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.21 NCF1 Zornitza Stark edited their review of gene: NCF1: Changed rating: AMBER
Paroxysmal Dyskinesia v0.112 ABAT Shekeeb S gene: ABAT was added
gene: ABAT was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 30617166
Phenotypes for gene: ABAT were set to intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia
Review for gene: ABAT was set to AMBER
gene: ABAT was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 PDE2A Shekeeb S reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37317634; Phenotypes: paroxysmal dyskinesia, intellectual disability, drug resistant epilepsy, progressive neurological decline, chorea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal Dyskinesia v0.112 XPR1 Shekeeb S gene: XPR1 was added
gene: XPR1 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: XPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPR1 were set to 33433330
Phenotypes for gene: XPR1 were set to brain calcification; basal ganglia calcification; paroxysmal dyskinesia; epilepsy; DEE
Review for gene: XPR1 was set to AMBER
gene: XPR1 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 CLDN5 Shekeeb S gene: CLDN5 was added
gene: CLDN5 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLDN5 were set to 35714222; 36825455
Phenotypes for gene: CLDN5 were set to familial migraine; alternating hemiplegia; hemiplegic migraine; brain calcification; acquired microcephaly; epilepsy
Penetrance for gene: CLDN5 were set to Incomplete
Review for gene: CLDN5 was set to GREEN
gene: CLDN5 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 KIAA1161 Shekeeb S gene: KIAA1161 was added
gene: KIAA1161 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1161 were set to 34346093; 34783389; 32303062
Phenotypes for gene: KIAA1161 were set to paroxysmal dyskinesia; brain calcification; episodic hemiparesis
Penetrance for gene: KIAA1161 were set to Complete
Review for gene: KIAA1161 was set to GREEN
gene: KIAA1161 was marked as current diagnostic
Added comment: Sources: Literature
Paroxysmal Dyskinesia v0.112 PRKN Shekeeb S gene: PRKN was added
gene: PRKN was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to 37205242
Phenotypes for gene: PRKN were set to paroxysmal exercise induced dyskinesia; fasting induced dyskinesia; early onset parkinsonism
Penetrance for gene: PRKN were set to Incomplete
Review for gene: PRKN was set to AMBER
Added comment: Only a single report but the phenotypic description and accompanying parkinsonism make this a likely robust finding.
Sources: Literature
Paroxysmal Dyskinesia v0.112 NBEA Shekeeb S gene: NBEA was added
gene: NBEA was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NBEA were set to 33692494
Phenotypes for gene: NBEA were set to Paroxysmal Kinesigenic Dyskinesia; DEE; autism; intellectual disability
Penetrance for gene: NBEA were set to unknown
Review for gene: NBEA was set to AMBER
Added comment: only one report and I have seen a poster from an independent group (not published yet)
Sources: Literature
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag for review was removed from gene: HBA1.
Tag treatable tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Tag technically challenging tag was added to gene: HBA2.
Genomic newborn screening: BabyScreen+ v1.21 HBA1 Zornitza Stark Tag technically challenging tag was added to gene: HBA1.
Genomic newborn screening: BabyScreen+ v1.21 IKBKG Zornitza Stark Tag technically challenging tag was added to gene: IKBKG.
Genomic newborn screening: BabyScreen+ v1.21 IGHM Zornitza Stark Classified gene: IGHM as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.21 IGHM Zornitza Stark Gene: ighm has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.20 IGHM Zornitza Stark changed review comment from: RefSeq annotation issues.; to: RefSeq annotation issues. Specific rescue loop built to capture variants.
Genomic newborn screening: BabyScreen+ v1.20 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.5399 TUBB3 Kaitlyn Dianna Weldon reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227; Phenotypes: complex cortical dysplasia with other brain malformations 1 MONDO:0013541; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TUBB4A Kaitlyn Dianna Weldon reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37529938, 35661708, 27538619, 24526230; Phenotypes: hypomyelinating leukodystrophy 6 MONDO:0012905, torsion dystonia 4 MONDO:0007493; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.5399 TH Claire Fryer-Smith reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 22815559, 11196107, 10585338; Phenotypes: Segawa syndrome, recessive MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 PTEN Claire Fryer-Smith reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21194675, 1859181, 23470840; Phenotypes: Cowden syndrome 1 MIM#158350, Lhermitte-Duclos disease MIM#158350, Macrocephaly/autism syndrome MIM#605309, Prostate cancer, somatic MIM#176807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TUBG1 Kaitlyn Dianna Weldon reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706637, 23603762; Phenotypes: complex cortical dysplasia with other brain malformations 4 MONDO:0014171, lissencephaly spectrum disorders MONDO:0018838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TWIST1 Kaitlyn Dianna Weldon reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301368; Phenotypes: Saethre-Chotzen syndrome MONDO:0007042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 UBA5 Kaitlyn Dianna Weldon reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811063; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 UBE3A Kaitlyn Dianna Weldon reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301323; Phenotypes: Angelman syndrome MONDO:0007113; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Intellectual disability syndromic and non-syndromic v0.5399 SDHA Claire Fryer-Smith reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1492653, 23322652; Phenotypes: Cardiomyopathy, dilated, 1GG MIM#613642, Mitochondrial complex II deficiency, nuclear type 1 MIM#252011, Neurodegeneration with ataxia and late-onset optic atrophy MIM#619259, Paragangliomas MIM#614165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1169 KLK11 Zornitza Stark Marked gene: KLK11 as ready
Mendeliome v1.1169 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Mendeliome v1.1169 KLK11 Zornitza Stark Classified gene: KLK11 as Green List (high evidence)
Mendeliome v1.1169 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Mendeliome v1.1168 KLK11 Zornitza Stark gene: KLK11 was added
gene: KLK11 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLK11 were set to 36689511; 37212630
Phenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507
Review for gene: KLK11 was set to GREEN
Added comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants.
Sources: Literature
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Marked gene: KLK11 as ready
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Classified gene: KLK11 as Green List (high evidence)
Ichthyosis and Porokeratosis v1.8 KLK11 Zornitza Stark Gene: klk11 has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.7 KLK11 Zornitza Stark gene: KLK11 was added
gene: KLK11 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: KLK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLK11 were set to 36689511; 37212630
Phenotypes for gene: KLK11 were set to Ichthyosis with erythrokeratoderma, MIM# 620507
Review for gene: KLK11 was set to GREEN
Added comment: Four families reported: one multiplex with variant segregating with disease in 4 affected and 4 unaffected individuals. Three additional families with de novo variants.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5399 VLDLR Kaitlyn Dianna Weldon reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301729; Phenotypes: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 VPS13B Kaitlyn Dianna Weldon reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301655; Phenotypes: Cohen syndrome MONDO:0008999; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 VRK1 Kaitlyn Dianna Weldon reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19646678; Phenotypes: pontocerebellar hypoplasia type 1A MONDO:0011866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 WDR45 Kaitlyn Dianna Weldon reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148, neurodegeneration with brain iron accumulation 5 MONDO:0010476; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.5399 WDR73 Kaitlyn Dianna Weldon reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 26123727; Phenotypes: Galloway-Mowat syndrome 1 MONDO:0033005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 SMAD4 Claire Fryer-Smith reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843046, 22243968, 7296942, 8261650; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050, Myhre syndrome MIM#139210, Pancreatic cancer, somatic MIM#260350, Polyposis, juvenile intestinal MIM#174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 WWOX Kaitlyn Dianna Weldon reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 25411445, 24369382; Phenotypes: developmental and epileptic encephalopathy, 28 MONDO:0014533, autosomal recessive spinocerebellar ataxia 12 MONDO:0013687; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 XRCC4 Claire Fryer-Smith reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25872942, 25839420, 18695064; Phenotypes: Short stature, microcephaly, and endocrine dysfunction MIM#616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 XRCC4 Kaitlyn Dianna Weldon reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25728776; Phenotypes: short stature, microcephaly, and endocrine dysfunction MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 TUBB2B Claire Fryer-Smith reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11425694, 23001566, 19465910, 22333901; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7 MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 ZDHHC9 Kaitlyn Dianna Weldon reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436253; Phenotypes: Syndromic X-linked intellectual disability Raymond type MONDO:0010427; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5399 ZFYVE26 Kaitlyn Dianna Weldon reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682; Phenotypes: hereditary spastic paraplegia 15 MONDO:0010044; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5399 ZIC2 Kaitlyn Dianna Weldon reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21940735; Phenotypes: holoprosencephaly 5 MONDO:0012322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rhabdomyolysis and Metabolic Myopathy v1.1 HMBS Bryony Thompson Classified gene: HMBS as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v1.1 HMBS Bryony Thompson Gene: hmbs has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.0 HMBS Bryony Thompson reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113461, 25389600, 18647325, 36335232, 34187794, 30778035, 18816221, 15298749; Phenotypes: Porphyria, acute intermittent MIM#176000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Rhabdomyolysis and Metabolic Myopathy v1.0 HMBS Bryony Thompson Deleted their review
Intellectual disability syndromic and non-syndromic v0.5399 TSC1 Claire Fryer-Smith reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10533067, 18830229, 15798777, 17304050; Phenotypes: Tuberous sclerosis-1 MIM#191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 TSC2 Claire Fryer-Smith reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985384, 10533067, 10205261, 17304050; Phenotypes: Tuberous sclerosis-2 MIM#613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5399 NR2F2 Achchuthan Shanmugasundram reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37500725; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.20 NCF1 Zornitza Stark Classified gene: NCF1 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.20 NCF1 Zornitza Stark Gene: ncf1 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark edited their review of gene: NCF1: Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark Classified gene: NCF1 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.19 NCF1 Zornitza Stark Gene: ncf1 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.18 NCF1 Zornitza Stark Tag technically challenging tag was added to gene: NCF1.
Genomic newborn screening: BabyScreen+ v1.18 NCF1 Zornitza Stark edited their review of gene: NCF1: Added comment: Mappability issues.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.18 CYP21A2 Zornitza Stark Classified gene: CYP21A2 as Green List (high evidence)
Genomic newborn screening: BabyScreen+ v1.18 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v1.17 CYP21A2 Zornitza Stark Tag treatable tag was added to gene: CYP21A2.
Tag endocrine tag was added to gene: CYP21A2.
Tag technically challenging tag was added to gene: CYP21A2.
Genomic newborn screening: BabyScreen+ v1.17 CYP21A2 Zornitza Stark edited their review of gene: CYP21A2: Added comment: Part of Victorian sNBS, therefore include, although technically challenging.; Changed rating: GREEN
Genomic newborn screening: BabyScreen+ v1.17 CORO1A Zornitza Stark Tag technically challenging tag was added to gene: CORO1A.
Genomic newborn screening: BabyScreen+ v1.17 F8 Zornitza Stark Tag for review was removed from gene: F8.
Tag technically challenging tag was added to gene: F8.
Genomic newborn screening: BabyScreen+ v1.17 GBA Zornitza Stark Tag technically challenging tag was added to gene: GBA.
Genomic newborn screening: BabyScreen+ v1.17 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.17 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.16 PMS2 Zornitza Stark Tag technically challenging tag was added to gene: PMS2.
Genomic newborn screening: BabyScreen+ v1.16 PMS2 Zornitza Stark edited their review of gene: PMS2: Added comment: Mappability issues.; Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.16 IGHM Zornitza Stark Classified gene: IGHM as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.16 IGHM Zornitza Stark Gene: ighm has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark Tag technically challenging tag was added to gene: IGHM.
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark edited their review of gene: IGHM: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.15 IGHM Zornitza Stark commented on gene: IGHM: RefSeq annotation issues.
Genomic newborn screening: BabyScreen+ v1.15 STRC Zornitza Stark Classified gene: STRC as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v1.15 STRC Zornitza Stark Gene: strc has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.14 STRC Zornitza Stark Tag technically challenging tag was added to gene: STRC.
Genomic newborn screening: BabyScreen+ v1.14 STRC Zornitza Stark edited their review of gene: STRC: Added comment: Technical issues with multi-mapping, therefore exclude for now.; Changed rating: AMBER
Genetic Epilepsy v0.1916 GABBR1 Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Intellectual disability syndromic and non-syndromic v0.5399 GABBR1 Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Mendeliome v1.1167 GABBR1 Zornitza Stark Phenotypes for gene: GABBR1 were changed from Neurodevelopmental disorder, GABBR1-related, MONDO:0700092 to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Mendeliome v1.1166 GABBR1 Zornitza Stark edited their review of gene: GABBR1: Changed phenotypes: Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Classified gene: TAB2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5398 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Motor Neurone Disease v1.7 MATR3 Bryony Thompson Publications for gene: MATR3 were set to
Motor Neurone Disease v1.6 MATR3 Bryony Thompson Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v1.43 REL Peter McNaughton reviewed gene: REL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34623332; Phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Marked gene: KCNA5 as ready
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.14 KCNA5 Zornitza Stark Phenotypes for gene: KCNA5 were changed from Atrial fibrillation to Atrial fibrillation, familial, 7, MIM# 612240
Genomic newborn screening: BabyScreen+ v1.13 KCNA5 Zornitza Stark Classified gene: KCNA5 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.13 KCNA5 Zornitza Stark Gene: kcna5 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 KCNA5 Zornitza Stark reviewed gene: KCNA5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Classified gene: GABRG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Classified gene: GABRG2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.12 GABRG2 Zornitza Stark Gene: gabrg2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.11 GABRG2 Zornitza Stark reviewed gene: GABRG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 74 618396, Epilepsy, generalized, with febrile seizures plus, type 3 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Gene: dkc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.11 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, MIM# 305000; Dyskeratosis congenita to Dyskeratosis congenita, X-linked, MIM# 305000
Genomic newborn screening: BabyScreen+ v1.10 DKC1 Zornitza Stark Classified gene: DKC1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.10 DKC1 Zornitza Stark Gene: dkc1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.9 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, X-linked, MIM# 305000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Marked gene: CDKN2A as ready
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.9 CDKN2A Zornitza Stark Phenotypes for gene: CDKN2A were changed from Melanoma to {Melanoma, cutaneous malignant, 2}, MIM# 155601
Genomic newborn screening: BabyScreen+ v1.8 CDKN2A Zornitza Stark Classified gene: CDKN2A as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.8 CDKN2A Zornitza Stark Gene: cdkn2a has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.7 CDKN2A Zornitza Stark reviewed gene: CDKN2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2}, MIM# 155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.7 BMPR2 Zornitza Stark Phenotypes for gene: BMPR2 were changed from Pulmonary hypertension, familial primary to Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600
Genomic newborn screening: BabyScreen+ v1.6 BMPR2 Zornitza Stark Classified gene: BMPR2 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.6 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.5 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.5 AIP Zornitza Stark Classified gene: AIP as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.5 AIP Zornitza Stark Gene: aip has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.4 AIP Zornitza Stark edited their review of gene: AIP: Changed rating: RED
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Marked gene: PHOX2B as ready
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Gene: phox2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.4 PHOX2B Zornitza Stark Phenotypes for gene: PHOX2B were changed from Central hypoventilation syndrome to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880
Genomic newborn screening: BabyScreen+ v1.3 PHOX2B Zornitza Stark Classified gene: PHOX2B as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.3 PHOX2B Zornitza Stark Gene: phox2b has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.2 PHOX2B Zornitza Stark reviewed gene: PHOX2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Marked gene: AIP as ready
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Gene: aip has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.2 AIP Zornitza Stark Phenotypes for gene: AIP were changed from Pituitary adenoma to Pituitary adenoma predisposition, MIM# 102200
Genomic newborn screening: BabyScreen+ v1.1 AIP Zornitza Stark reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary adenoma predisposition, MIM# 102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Miscellaneous Metabolic Disorders v1.30 FTCD Bryony Thompson Publications for gene: FTCD were set to 27604308; 12815595
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: None; Publications: http://iembase.com/disorder/47; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: None
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson Deleted their review
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47).
Intellectual disability syndromic and non-syndromic v0.5397 FTCD Bryony Thompson Marked gene: FTCD as ready
Intellectual disability syndromic and non-syndromic v0.5397 FTCD Bryony Thompson Gene: ftcd has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5397 FTCD Bryony Thompson Phenotypes for gene: FTCD were changed from to Glutamate formiminotransferase deficiency MIM#229100
Intellectual disability syndromic and non-syndromic v0.5396 FTCD Bryony Thompson Publications for gene: FTCD were set to
Intellectual disability syndromic and non-syndromic v0.5395 FTCD Bryony Thompson Mode of inheritance for gene: FTCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1166 FTCD Bryony Thompson Publications for gene: FTCD were set to 27604308; 12815595
Mendeliome v1.1165 FTCD Bryony Thompson edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47
Mendeliome v1.1165 FTCD Bryony Thompson changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47).
Intellectual disability syndromic and non-syndromic v0.5394 FTCD Bryony Thompson Classified gene: FTCD as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5394 FTCD Bryony Thompson Added comment: Comment on list classification: According to IEMbase this gene is associated with a benign form of disorder of folate metabolism with no clinical significance
Intellectual disability syndromic and non-syndromic v0.5394 FTCD Bryony Thompson Gene: ftcd has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1165 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918 to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918; Deafness, autosomal dominant 83, MIM# 619808
Mendeliome v1.1164 MAP1B Zornitza Stark edited their review of gene: MAP1B: Added comment: At least 3 families reported with isolated deafness and mono-allelic variants.; Changed phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918, Deafness, autosomal dominant 83, MIM# 619808
Deafness_IsolatedAndComplex v1.161 MAP1B Zornitza Stark Phenotypes for gene: MAP1B were changed from Periventricular nodular heterotopia 9 MIM#618918; sensorineural hearing loss to Deafness, autosomal dominant 83, MIM# 619808
Deafness_IsolatedAndComplex v1.160 MAP1B Zornitza Stark reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 83, MIM# 619808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.264 WDR45 Kaitlyn Dianna Weldon reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 28211668; Phenotypes: neurodegeneration with brain iron accumulation 5 MONDO:0010476, X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early-onset Parkinson disease v0.264 VPS13A Kaitlyn Dianna Weldon reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301561, 37636221; Phenotypes: chorea-acanthocytosis MONDO:0008695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.264 TUBB4A Kaitlyn Dianna Weldon reviewed gene: TUBB4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.264 TH Kaitlyn Dianna Weldon reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301334, 20301610; Phenotypes: TH-deficient dopa-responsive dystonia MONDO:0011551, tyrosine hydroxylase deficiency MONDO:0100064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.264 SPR Claire Fryer-Smith reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 22522443, 11920285, 14663042, 16443856, 21782285, 32813147; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (MIM# 612716); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Genetic Epilepsy v0.1915 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1914 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIP5K1C were set to 37451268
Phenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Review for gene: PIP5K1C was set to GREEN
Added comment: Three de novo heterozygous missense variants in PIP5K1C (p.Glu146Lys, p.Tyr205Cys & p.Tyr221Cys) were identified in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. Intellectual disability was reported in all nine children and seizures were present in seven children, of which three had developmental and epileptic encephalopathy. In addition, there is functional evidence available, which includes an in vivo zebrafish model that recapitulates the human phenotype (developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities) (PMID:37451268).
Sources: Expert Review
Mendeliome v1.1164 GJA4 Zornitza Stark Marked gene: GJA4 as ready
Mendeliome v1.1164 GJA4 Zornitza Stark Gene: gja4 has been classified as Green List (High Evidence).
Mendeliome v1.1164 GJA4 Zornitza Stark Classified gene: GJA4 as Green List (high evidence)
Mendeliome v1.1164 GJA4 Zornitza Stark Gene: gja4 has been classified as Green List (High Evidence).
Mendeliome v1.1163 GJA4 Zornitza Stark gene: GJA4 was added
gene: GJA4 was added to Mendeliome. Sources: Expert Review
somatic tags were added to gene: GJA4.
Mode of inheritance for gene: GJA4 was set to Other
Publications for gene: GJA4 were set to 33912852
Phenotypes for gene: GJA4 were set to Cavernous hemangioma, MONDO:0003155, GJA4-related
Review for gene: GJA4 was set to GREEN
Added comment: Recurrent somatic GJA4 c.121G>T (p.Gly41Cys) mutation as a driver of hepatic (n=12) and cutaneous (n=3) vascular malformations. Induced changes in cell morphology and activated serum/glucocorticoid-regulated kinase 1 (SGK1), a serine/threonine kinase known to regulate cell proliferation and apoptosis, via non-canonical activation, in lentiviral transduction of primary human endothelial cells.
Sources: Expert Review
Ataxia v1.11 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Ataxia v1.11 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Ataxia v1.11 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Ataxia v1.11 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Ataxia v1.10 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Ataxia - paediatric. Sources: Expert Review
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, complex neurological phenotype of dev delay/ID, cerebellar atrophy and neuropathy, severe progressive course in six.
Sources: Expert Review
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Marked gene: MAB21L2 as ready
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Classified gene: MAB21L2 as Green List (high evidence)
Skeletal dysplasia v0.253 MAB21L2 Zornitza Stark Gene: mab21l2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.252 MAB21L2 Zornitza Stark gene: MAB21L2 was added
gene: MAB21L2 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: MAB21L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAB21L2 were set to 24906020; 25719200; 31037784; 30375740; 30073347; 26116559
Phenotypes for gene: MAB21L2 were set to Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877
Review for gene: MAB21L2 was set to GREEN
Added comment: More than 7 unrelated families reported with microphthalmia/anophthalmia/coloboma and rhizomelia. Several individuals with the c.151C > T (p.Arg51Cys) variant also had ID.

One family reported with eye phenotype and bi-allelic missense variants, LIMITED evidence for bi-allelic disease.

Three different animal models support gene-disease association.
Sources: Expert Review
Early-onset Parkinson disease v0.264 SPG11 Claire Fryer-Smith reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 35036589, 23121729, 21381113, 27217339; Phenotypes: Amyotrophic lateral sclerosis 5, juvenile (MIM# 602099), Charcot-Marie-Tooth disease, axonal, type 2X (MIM# 616668), Spastic paraplegia 11, autosomal recessive (MIM# 604360); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Marked gene: CAP2 as ready
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.169 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5393 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Intellectual developmental disorder 34 (MIM#616351)
Intellectual disability syndromic and non-syndromic v0.5392 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to 25533962
Intellectual disability syndromic and non-syndromic v0.5391 COL4A3BP Zornitza Stark Mode of pathogenicity for gene: COL4A3BP was changed from to Other
Mendeliome v1.1162 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from Mental retardation, autosomal dominant 34, MIM# 616351 to Intellectual developmental disorder 34 (MIM#616351)
Mendeliome v1.1161 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to 25533962
Mendeliome v1.1160 COL4A3BP Zornitza Stark Mode of pathogenicity for gene: COL4A3BP was changed from to Other
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Green List (high evidence)
Genetic Epilepsy v0.1913 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Classified gene: GABRB3 as Green List (high evidence)
Paroxysmal Dyskinesia v0.112 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Mendeliome v1.1159 DBR1 Zornitza Stark Phenotypes for gene: DBR1 were changed from {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem; Ichthyosis (MONDO#0019269), DBR1-related
Mendeliome v1.1158 DBR1 Zornitza Stark edited their review of gene: DBR1: Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed publications: 29474921, 37656279; Changed phenotypes: {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441, Viral infections of the brainstem, Ichthyosis (MONDO#0019269), DBR1-related
Fetal anomalies v1.143 DBR1 Zornitza Stark Tag founder tag was added to gene: DBR1.
Ichthyosis and Porokeratosis v1.6 DBR1 Zornitza Stark Tag founder tag was added to gene: DBR1.
Microcephaly v1.230 GABRB3 Zornitza Stark Marked gene: GABRB3 as ready
Microcephaly v1.230 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Microcephaly v1.230 GABRB3 Zornitza Stark Classified gene: GABRB3 as Green List (high evidence)
Microcephaly v1.230 GABRB3 Zornitza Stark Gene: gabrb3 has been classified as Green List (High Evidence).
Mendeliome v1.1158 APOO Zornitza Stark Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Mendeliome v1.1157 APOO Zornitza Stark Publications for gene: APOO were set to 32439808
Mendeliome v1.1156 APOO Zornitza Stark edited their review of gene: APOO: Added comment: PMID: 37649161
1 family, 2 individuals (male & female) with same NMD variant c.532G>T (p.E178*), maternally inherited (mother unaffected).

Both died before 18 months of age with partial agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, and severe immune deficiencies.
Other phenotypes included partial syndactyly of the 2nd and 3rd toes, wrinkled palm, and sole skin.

Functional studies included site directed mutagenesis. This mutation resulted in a highly unstable and degradation
prone MIC26 protein, yet the remaining minute amounts of mutant MIC26 correctly localized to mitochondria and
interacted physically with other MICOS subunits. MIC26 KO cells expressing MIC26 harboring the respective APOO/MIC26 mutation showed mitochondria with perturbed cristae architecture and fragmented morphology resembling MIC26 KO cells.; Changed publications: 37649161; Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour
Mitochondrial disease v0.891 APOO Zornitza Stark Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Mitochondrial disease v0.890 APOO Zornitza Stark Publications for gene: APOO were set to 32439808
Mitochondrial disease v0.889 APOO Zornitza Stark edited their review of gene: APOO: Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour
Ciliopathies v1.45 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Ciliopathies v1.45 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Ciliopathies v1.45 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Ciliopathies v1.45 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Skeletal Ciliopathies v1.10 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.264 SLC30A10 Claire Fryer-Smith reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22341971, 22341972; Phenotypes: Hypermanganesemia with dystonia 1 (MIM# 613280); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Green List (high evidence)
Disorders of immune dysregulation v0.179 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.178 COL4A3BP Zornitza Stark Tag new gene name tag was added to gene: COL4A3BP.
Early-onset Parkinson disease v0.264 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Early-onset Parkinson disease v0.264 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.264 SLC39A14 Zornitza Stark Phenotypes for gene: SLC39A14 were changed from to Hypermanganesemia with dystonia 2 (MIM# 617013)
Early-onset Parkinson disease v0.263 SLC39A14 Zornitza Stark Publications for gene: SLC39A14 were set to
Early-onset Parkinson disease v0.262 SLC39A14 Zornitza Stark Mode of inheritance for gene: SLC39A14 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.261 SLC39A14 Zornitza Stark Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.260 SLC39A14 Claire Fryer-Smith reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231142, 32626807, 29685658, 30232769; Phenotypes: Hypermanganesemia with dystonia 2 (MIM# 617013); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.178 COL4A3BP Ee Ming Wong gene: COL4A3BP was added
gene: COL4A3BP was added to Disorders of immune dysregulation. Sources: Literature
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A3BP were set to PMID: 36976648
Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)
Mode of pathogenicity for gene: COL4A3BP was set to Other
Review for gene: COL4A3BP was set to GREEN
gene: COL4A3BP was marked as current diagnostic
Added comment: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Sources: Literature
Skeletal Ciliopathies v1.9 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Mitochondrial disease v0.889 APOO Karina Sandoval reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37649161; Phenotypes: agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, severe immune deficiencies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.205 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Cataract v0.356 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Cataract v0.356 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Cataract v0.356 COL4A2 Zornitza Stark Classified gene: COL4A2 as Amber List (moderate evidence)
Cataract v0.356 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1156 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Microcephaly v1.229 GABRB3 Michelle Torres gene: GABRB3 was added
gene: GABRB3 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Review for gene: GABRB3 was set to GREEN
Added comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.

Gain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.

LoF variants have not been associated with microcephaly and movement disorders either.
Sources: Literature
Macrocephaly_Megalencephaly v0.132 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Genetic Epilepsy v0.1912 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Ciliopathies v1.44 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Ciliopathies. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.7 DHX16 Seb Lunke Publications for gene: DHX16 were set to 36211162
Ichthyosis and Porokeratosis v1.6 DBR1 Seb Lunke Marked gene: DBR1 as ready
Ichthyosis and Porokeratosis v1.6 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.143 DBR1 Seb Lunke Marked gene: DBR1 as ready
Fetal anomalies v1.143 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1156 DBR1 Chern Lim reviewed gene: DBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37656279; Phenotypes: Ichthyosis (MONDO#0019269), DBR1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Ichthyosis and Porokeratosis v1.6 DBR1 Seb Lunke Phenotypes for gene: DBR1 were changed from Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life to Ichthyosis (MONDO#0019269), DBR1-related
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Marked gene: RAB5C as ready
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Genetic Epilepsy v0.1912 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.111 GABRB3 Michelle Torres gene: GABRB3 was added
gene: GABRB3 was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB3 were set to 37647766
Phenotypes for gene: GABRB3 were set to Developmental and epileptic encephalopathy 43 MIM#617113
Mode of pathogenicity for gene: GABRB3 was set to Other
Review for gene: GABRB3 was set to GREEN
Added comment: Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.

Gain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.

LoF variants have not been associated with microcephaly and movement disorders either.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.6 DHX16 Seb Lunke Classified gene: DHX16 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.6 DHX16 Seb Lunke Gene: dhx16 has been classified as Green List (High Evidence).
Fetal anomalies v1.143 DBR1 Seb Lunke Phenotypes for gene: DBR1 were changed from Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life to Ichthyosis (MONDO#0019269), DBR1-related
Fetal anomalies v1.142 DBR1 Chern Lim Deleted their comment
Genetic Epilepsy v0.1911 COL4A3BP Ee Ming Wong gene: COL4A3BP was added
gene: COL4A3BP was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A3BP were set to PMID: 36976648
Phenotypes for gene: COL4A3BP were set to Intellectual developmental disorder 34 (MIM#616351)
Mode of pathogenicity for gene: COL4A3BP was set to Other
Review for gene: COL4A3BP was set to GREEN
gene: COL4A3BP was marked as current diagnostic
Added comment: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Sources: Literature
Fetal anomalies v1.142 DBR1 Chern Lim edited their review of gene: DBR1: Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related
Mendeliome v1.1156 CAP2 Zornitza Stark Phenotypes for gene: CAP2 were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 2I (MIM#620462)
Ichthyosis and Porokeratosis v1.5 DBR1 Chern Lim Deleted their comment
Mendeliome v1.1155 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT; to: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Ichthyosis and Porokeratosis v1.5 DBR1 Chern Lim edited their review of gene: DBR1: Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Total of 7 affected children. WES done for one proband from each family.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.; Changed phenotypes: Ichthyosis (MONDO#0019269), DBR1-related
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT; to: - current HGNC symbol: CERT1
- Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Mendeliome v1.1155 CAP2 Zornitza Stark Publications for gene: CAP2 were set to 30518548
Genetic Epilepsy v0.1911 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Cardiomyopathy_Paediatric v0.168 CAP2 Daniel Flanagan gene: CAP2 was added
gene: CAP2 was added to Cardiomyopathy_Paediatric. Sources: Expert list
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Expert list
Mendeliome v1.1154 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Mendeliome v1.1154 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Marked gene: RAB5C as ready
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 CAP2 Zornitza Stark reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30518548, 33083013, 34862840; Phenotypes: Cardiomyopathy, dilated, 2I (MIM#620462); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Macrocephaly_Megalencephaly v0.132 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.131 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Macrocephaly_Megalencephaly v0.131 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Marked gene: CAP2 as ready
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Mendeliome v1.1153 COL4A3BP Ee Ming Wong reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36976648; Phenotypes: Intellectual developmental disorder 34 (MIM#616351); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Macrocephaly_Megalencephaly v0.130 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,
which was corrected by pharmacological inhibition of CERT; to: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity, which was corrected by pharmacological inhibition of CERT
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong changed review comment from: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,
which was corrected by pharmacological inhibition of CERT; to: - Thirty-one unrelated individuals with twenty-two distinct missense variants. The majority of variants were de novo.
- Several variants transfected into HeLa cells demonstrated gain of CERT activity
- CERT gain of function in Drosophila melanogaster led to head and brain size defects and impaired locomotor activity,
which was corrected by pharmacological inhibition of CERT
Dilated Cardiomyopathy v1.22 CAP2 Daniel Flanagan gene: CAP2 was added
gene: CAP2 was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5390 COL4A3BP Ee Ming Wong reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 36976648; Phenotypes: Intellectual developmental disorder 34 (MIM#616351); Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v1.142 LNPK Zornitza Stark Marked gene: LNPK as ready
Fetal anomalies v1.142 LNPK Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.5 DHX16 Belinda Chong reviewed gene: DHX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 37664979, 37574199; Phenotypes: Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733, MONDO:0032890); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.142 LNPK Zornitza Stark Classified gene: LNPK as Green List (high evidence)
Fetal anomalies v1.142 LNPK Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.5 DBR1 Seb Lunke Classified gene: DBR1 as Amber List (moderate evidence)
Ichthyosis and Porokeratosis v1.5 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Rylee Peters changed review comment from: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature; to: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All have mild to severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Marked gene: RAB5C as ready
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5390 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 RAB5C Ain Roesley Marked gene: RAB5C as ready
Mendeliome v1.1153 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Mendeliome v1.1153 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Mendeliome v1.1153 RAB5C Ain Roesley Classified gene: RAB5C as Green List (high evidence)
Mendeliome v1.1153 RAB5C Ain Roesley Gene: rab5c has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.130 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.130 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Mendeliome v1.1152 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.129 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Mendeliome v1.1152 AXIN1 Elena Savva Phenotypes for gene: AXIN1 were changed from Caudal duplication anomaly, MIM# 607864 to Caudal duplication anomaly, MIM# 607864; Syndromic disease, (MONDO:0002254), AXIN1-related
Mendeliome v1.1152 AXIN1 Elena Savva Publications for gene: AXIN1 were set to 9335612
Fetal anomalies v1.141 DBR1 Seb Lunke Classified gene: DBR1 as Amber List (moderate evidence)
Fetal anomalies v1.141 DBR1 Seb Lunke Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1151 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Mendeliome v1.1151 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Mendeliome v1.1151 AXIN1 Elena Savva Mode of inheritance for gene: AXIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5389 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5389 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.128 AXIN1 Elena Savva Marked gene: AXIN1 as ready
Macrocephaly_Megalencephaly v0.128 AXIN1 Elena Savva Gene: axin1 has been classified as Red List (Low Evidence).
Mendeliome v1.1150 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Mendeliome v1.1150 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5388 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5388 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5387 RAB5C Rylee Peters gene: RAB5C was added
gene: RAB5C was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RAB5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB5C were set to PMID: 37552066
Phenotypes for gene: RAB5C were set to Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Penetrance for gene: RAB5C were set to Complete
Review for gene: RAB5C was set to GREEN
gene: RAB5C was marked as current diagnostic
Added comment: 12 individuals with nine different heterozygous de novo variants in RAB5C.
9 with missense, 1 inframe duplication and 2 stop-gains (clinically more severe).
All has mild-severe ID, 4/12 have epilepsy, 6/12 have macrocephaly (more than 3 SD).
Sources: Literature
Skeletal dysplasia v0.251 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Skeletal dysplasia v0.251 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5387 AXIN1 Elena Savva Marked gene: AXIN1 as ready
Intellectual disability syndromic and non-syndromic v0.5387 AXIN1 Elena Savva Gene: axin1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5387 COL4A3BP Zornitza Stark Tag new gene name tag was added to gene: COL4A3BP.
Skeletal dysplasia v0.250 AXIN1 Elena Savva Marked gene: AXIN1 as ready
Skeletal dysplasia v0.250 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.250 AXIN1 Elena Savva Marked gene: AXIN1 as ready
Skeletal dysplasia v0.250 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.250 AXIN1 Elena Savva Classified gene: AXIN1 as Green List (high evidence)
Skeletal dysplasia v0.250 AXIN1 Elena Savva Gene: axin1 has been classified as Green List (High Evidence).
Fetal anomalies v1.140 LNPK Lilian Rudd gene: LNPK was added
gene: LNPK was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to PMID: 30032983, PMID:35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090
Review for gene: LNPK was set to GREEN
Added comment: Moderate to severe ID, majority of patients 10/15 have period of regression
Epilepsy (myoclonic frequently)
Structural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy.
Microcephaly, macrocephaly and normal head circumference described.
Sources: Literature
Mendeliome v1.1149 COL4A3BP Zornitza Stark Tag new gene name tag was added to gene: COL4A3BP.
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Marked gene: PPP1R3F as ready
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Green List (high evidence)
Genetic Epilepsy v0.1911 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1910 PPP1R3F Andrew Fennell gene: PPP1R3F was added
gene: PPP1R3F was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PPP1R3F were set to 37531237
Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Review for gene: PPP1R3F was set to GREEN
Added comment: 13 unrelated hemizygous individuals with a neurodevelopmental disorder were reported, with functional evidence.
6/13 (46%) were reported with heterogeneous seizure types including generalized, nocturnal, tonic, atonic, focal, myoclonic, and atypical absence.
Sources: Literature
Fetal anomalies v1.140 DBR1 Chern Lim gene: DBR1 was added
gene: DBR1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 37656279
Phenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life
Review for gene: DBR1 was set to AMBER
gene: DBR1 was marked as current diagnostic
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.
Sources: Literature
Ichthyosis and Porokeratosis v1.4 DBR1 Chern Lim gene: DBR1 was added
gene: DBR1 was added to Ichthyosis. Sources: Literature
Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBR1 were set to 37656279
Phenotypes for gene: DBR1 were set to Prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation, and death before the first year of life
Review for gene: DBR1 was set to AMBER
gene: DBR1 was marked as current diagnostic
Added comment: PMID: 37656279:
- A homozygous missense as a founder recessive DBR1 variant in four consanguineous families.
- Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life.
- RNA and protein studies using fibroblasts derived from a patient are supportive of pathogenicity: RNA-seq, rt-qPCR and western blotting, showing marked reduction of DBR1 level and intronic RNA lariat accumulation in the patient sample.
- Haplotype analysis revealed that the four families all share a haplotype extending at least 2.27 Mb around the c.200A>G p.(Tyr67Cys) DBR1 founder variant.
- Authors proposed this is a novel DBR1-related developmental disorder that is distinct from DBR1-related encephalitis susceptibility, and highlighted the apparent lack of correlation with the degree of DBR1 deficiency.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5387 AXIN1 Elena Savva gene: AXIN1 was added
gene: AXIN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to PMID: 37582359
Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related
Review for gene: AXIN1 was set to GREEN
Added comment: PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis
Sources: Literature
Macrocephaly_Megalencephaly v0.128 AXIN1 Elena Savva gene: AXIN1 was added
gene: AXIN1 was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to PMID: 37582359
Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related
Review for gene: AXIN1 was set to GREEN
Added comment: PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis
Sources: Literature
Skeletal dysplasia v0.249 AXIN1 Elena Savva gene: AXIN1 was added
gene: AXIN1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to PMID: 37582359
Phenotypes for gene: AXIN1 were set to Syndromic disease, (MONDO:0002254), AXIN1-related
Review for gene: AXIN1 was set to GREEN
Added comment: PMID: 37582359
- four families (7 individuals) with three homozygous truncating variants.
- all variant shown to result in reduced protein, though 1/3 would be NMD predicted
- Probands had macrocephaly (4/6), GDD (3/7), hip dysplasia (5/6), cardiac anomalies eg. VSD/ASD (3/7), cranial hyperostosis and vertebral endplate sclerosis
Sources: Literature
Fetal anomalies v1.140 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Fetal anomalies v1.140 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Fetal anomalies v1.140 CUL3 Zornitza Stark Classified gene: CUL3 as Green List (high evidence)
Fetal anomalies v1.140 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Callosome v0.505 LNPK Zornitza Stark Marked gene: LNPK as ready
Callosome v0.505 LNPK Zornitza Stark Gene: lnpk has been classified as Green List (High Evidence).
Callosome v0.505 LNPK Zornitza Stark Publications for gene: LNPK were set to PMID: 35599435, 30032983
Regression v0.533 LNPK Lilian Rudd gene: LNPK was added
gene: LNPK was added to Regression. Sources: Literature
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to PMID: 35599435, https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090
Review for gene: LNPK was set to GREEN
Added comment: Moderate to severe ID, majority of patients 10/15 have period of regression
Epilepsy (myoclonic frequently)
Structural brain anomalies 'ear of the lynx sign', callosal hypoplasia, mild brain including cerebellar atrophy.
Microcephaly, macrocephaly and normal head circumference described.
Sources: Literature
Fetal anomalies v1.139 CUL3 Lucy Spencer gene: CUL3 was added
gene: CUL3 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 37665043
Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496)
Review for gene: CUL3 was set to GREEN
Added comment: PMID: 37665043
1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy).
Sources: Literature
Congenital Heart Defect v0.294 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Congenital Heart Defect v0.294 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.294 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496) to Neurodevelopmental disorder with or without autism or seizures (MIM#619239)
Congenital Heart Defect v0.293 CUL3 Zornitza Stark Classified gene: CUL3 as Green List (high evidence)
Congenital Heart Defect v0.293 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Mendeliome v1.1149 PPP1R3F Andrew Fennell changed review comment from: Sources: Literature; to: 13 unrelated hemizygous individuals reported with functional evidence
Sources: Literature
Mendeliome v1.1149 PPP1R3F Zornitza Stark Marked gene: PPP1R3F as ready
Mendeliome v1.1149 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Mendeliome v1.1149 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Green List (high evidence)
Mendeliome v1.1149 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Mendeliome v1.1148 PPP1R3F Andrew Fennell gene: PPP1R3F was added
gene: PPP1R3F was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PPP1R3F were set to 37531237
Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Review for gene: PPP1R3F was set to GREEN
Added comment: Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5386 PPP1R3F Zornitza Stark Marked gene: PPP1R3F as ready
Intellectual disability syndromic and non-syndromic v0.5386 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5386 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5386 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Green List (High Evidence).
Callosome v0.504 LNPK Lilian Rudd reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://academic.oup.com/braincomms/advance-article/doi/10.1093/braincomms/fcad222/7243438?login=true; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.292 CUL3 Lucy Spencer gene: CUL3 was added
gene: CUL3 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 37665043
Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures (MIM#619239); Pseudohypoaldosteronism, type IIE (MIM#614496)
Review for gene: CUL3 was set to GREEN
Added comment: PMID: 37665043
1 case study and a review of the literature. 5 patients with de novo variants (PTCs and missense) in CUL3 who have various cardiac phenotypes: atrial septal defects, left ventricular outflow tract obstruction. Hypertrophic right ventricle pulmonary atresia, and other congenital heart defects. 2 of these patients have a neurological phenotype as well, while the other three are not reported to have one (but at least one was a terminated pregnancy).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5385 PPP1R3F Andrew Fennell gene: PPP1R3F was added
gene: PPP1R3F was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PPP1R3F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PPP1R3F were set to 37531237
Phenotypes for gene: PPP1R3F were set to Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related
Review for gene: PPP1R3F was set to GREEN
Added comment: 13 unrelated hemizygous individuals reported with functional evidence
Sources: Literature
Early-onset Parkinson disease v0.260 RAB39B Claire Fryer-Smith reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434005, 26399558, 26739247; Phenotypes: Waisman syndrome (MIM#311510), Intellectual developmental disorder, X-linked 72 (MIM#300271); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital Heart Defect v0.292 LAMA3 Bryony Thompson Marked gene: LAMA3 as ready
Congenital Heart Defect v0.292 LAMA3 Bryony Thompson Gene: lama3 has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v1.10 PTEN Chern Lim reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: PTEN hamartoma tumour syndrome (MONDO#0017623); Mode of inheritance: None
Mendeliome v1.1148 LAMA3 Bryony Thompson Publications for gene: LAMA3 were set to 7633458; 8530087; 11810295; 10366601
Congenital Heart Defect v0.292 LAMA3 Bryony Thompson Classified gene: LAMA3 as Amber List (moderate evidence)
Congenital Heart Defect v0.292 LAMA3 Bryony Thompson Gene: lama3 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.291 LAMA3 Bryony Thompson gene: LAMA3 was added
gene: LAMA3 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: LAMA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LAMA3 were set to 37635785
Phenotypes for gene: LAMA3 were set to Ebstein anomaly MONDO:0009144
Review for gene: LAMA3 was set to AMBER
Added comment: Single study with heterozygous nonsense variants identified in LAMA3 in two families with incomplete penetrance (a trio with one unaffected parent and a family with 2 affected and 1 unaffected carrier). p.Arg1126Ter has 5 hets in gnomAD v2.1 & p.Gln1507Ter has 4 hets in gnomAD v2.1. Variant filtering (including CNV detection algorithms) was conducted on WGS/WES from the trio and 2 affected individuals from the family.
Cardiac phenotypes in carriers of the junctional EB families harbouring LAMA3 pathogenic variants have not been reported. Lama3 +/- mice demonstrated abnormalities in the tricuspid valve and RV, similar to phenotypes observed in human Ebstein’s anomaly. Lama3 -/- mice were embryonic lethal.
Sources: Literature
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Marked gene: FTH1 as ready
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Classified gene: FTH1 as Green List (high evidence)
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances
Neurodegeneration with brain iron accumulation v0.30 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Neurodegeneration with brain iron accumulation v0.29 FTH1 Bryony Thompson Publications for gene: FTH1 were set to 36778397
Cerebellar and Pontocerebellar Hypoplasia v1.62 FTH1 Bryony Thompson Publications for gene: FTH1 were set to 36778397
Cerebellar and Pontocerebellar Hypoplasia v1.61 FTH1 Bryony Thompson Classified gene: FTH1 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.61 FTH1 Bryony Thompson Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances
Cerebellar and Pontocerebellar Hypoplasia v1.61 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Regression v0.533 FTH1 Bryony Thompson Publications for gene: FTH1 were set to 36778397
Regression v0.532 FTH1 Bryony Thompson Classified gene: FTH1 as Green List (high evidence)
Regression v0.532 FTH1 Bryony Thompson Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances
Regression v0.532 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Mendeliome v1.1147 FTH1 Bryony Thompson Publications for gene: FTH1 were set to 11389486; 36778397
Mendeliome v1.1146 FTH1 Bryony Thompson Mode of pathogenicity for gene: FTH1 was changed from None to Other
Mendeliome v1.1145 FTH1 Bryony Thompson Classified gene: FTH1 as Green List (high evidence)
Mendeliome v1.1145 FTH1 Bryony Thompson Added comment: Comment on list classification: Article describing the gene-disease association with neuroferritinopathy now published in HGG advances
Mendeliome v1.1145 FTH1 Bryony Thompson Gene: fth1 has been classified as Green List (High Evidence).
Mendeliome v1.1144 C3 Ain Roesley Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779; C3 deficiency MIM#613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Mendeliome v1.1143 C3 Ain Roesley Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111
Mendeliome v1.1143 C3 Ain Roesley Mode of inheritance for gene: C3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1142 C3 Ain Roesley edited their review of gene: C3: Changed phenotypes: C3 deficiency MIM#613779, {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Mendeliome v1.1142 C3 Ain Roesley edited their review of gene: C3: Added comment: Multiple individuals reported with mono-allelic variants and aHUS. At least one report of biallelic variants.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5385 ATM Zornitza Stark Marked gene: ATM as ready
Intellectual disability syndromic and non-syndromic v0.5385 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5385 ATM Zornitza Stark Phenotypes for gene: ATM were changed from to Ataxia-telangiectasia, MIM#208900
Intellectual disability syndromic and non-syndromic v0.5384 ATM Zornitza Stark Classified gene: ATM as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5384 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5383 ATM Zornitza Stark edited their review of gene: ATM: Added comment: Progressive cerebellar dysfunction. Intellectual ability is typically normal. However, learning can be impaired due to motor and speech difficulties.; Changed rating: AMBER
Cataract v0.355 COL4A2 Ee Ming Wong gene: COL4A2 was added
gene: COL4A2 was added to Cataract. Sources: Literature
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A2 were set to PMID: 26708157; 24203695
Phenotypes for gene: COL4A2 were set to Cataract (MONDO:0005129), COL4A2-related
Review for gene: COL4A2 was set to AMBER
gene: COL4A2 was marked as current diagnostic
Added comment: - PMID: 26708157: One family with an autosomal dominant disorder comprising porencephaly, focal epilepsy, and lens opacities where p.Gly800Glu was identified in affected family members. The cataracts identified in this family was considered a phenotypic expansion associated with COL4A2 mutation.
- PMID: 24203695: Heterozygous mice carrying the COL4A2 p.(Gly646Asp) variant demonstrated cerebral, muscular and ocular phenotypes including cataract.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5383 ATM Zornitza Stark reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.188 ESAM Zornitza Stark Marked gene: ESAM as ready
Cerebral Palsy v1.188 ESAM Zornitza Stark Gene: esam has been classified as Green List (High Evidence).
Cerebral Palsy v1.188 ESAM Zornitza Stark Classified gene: ESAM as Green List (high evidence)
Cerebral Palsy v1.188 ESAM Zornitza Stark Gene: esam has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.168 TBX20 Zornitza Stark Publications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022
Cerebral Palsy v1.187 ESAM Luisa Weiss changed review comment from: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations.

ESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to caus lack of ESAM expression in the capillary endothelial cells of damaged brain.
Sources: Literature; to: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations.

ESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to cause lack of ESAM expression in the capillary endothelial cells of damaged brain.
Sources: Literature
Cerebral Palsy v1.187 ESAM Luisa Weiss gene: ESAM was added
gene: ESAM was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to 36996813
Phenotypes for gene: ESAM were set to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity MIM#620371
Review for gene: ESAM was set to GREEN
Added comment: Lecca et al. reported 13 individuals from 8 families (4 of which coming from the same geographical region) with a severe neurodevelopmental disorder. Although no formal diagnosis of CP was made, all patients had spasticity and most patients showed spastic tetraparesis. Many patients showed additional phenotypic features (like dysmorphism). All mutations were predicted to be Loss of function mutations.

ESAM encodes an endothelial cell adhesion molecule. A recurrent variant (c.115del;p.(Arg39Glyfs∗33)) was functionally analyzed and showed to impair the in vitro tubulogenic process of endothelial colony-forming cells and to caus lack of ESAM expression in the capillary endothelial cells of damaged brain.
Sources: Literature
Cardiomyopathy_Paediatric v0.167 TBX20 Ivan Macciocca reviewed gene: TBX20: Rating: ; Mode of pathogenicity: None; Publications: 37657916; Phenotypes: ; Mode of inheritance: None
Differences of Sex Development v0.282 SOX11 Zornitza Stark Marked gene: SOX11 as ready
Differences of Sex Development v0.282 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark changed review comment from: More appropriate for LGMD panel.; to: More appropriate for LGMD panel but rate Amber here to avoid missing diagnoses.
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark edited their review of gene: CAPN3: Changed rating: AMBER
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark Classified gene: CAPN3 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.5 CAPN3 Zornitza Stark Gene: capn3 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.51 SLC30A7 Zornitza Stark Marked gene: SLC30A7 as ready
Bone Marrow Failure v1.51 SLC30A7 Zornitza Stark Gene: slc30a7 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.51 SLC30A7 Zornitza Stark gene: SLC30A7 was added
gene: SLC30A7 was added to Bone Marrow Failure. Sources: Expert Review
Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A7 were set to 36821639
Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, MIM# 620501
Review for gene: SLC30A7 was set to RED
Added comment: Two sibs reported with compound het variants in this gene and severe growth failure, testicular hypoplasia and progressive bone marrow failure.
Sources: Expert Review
Growth failure v1.69 SLC30A7 Zornitza Stark Marked gene: SLC30A7 as ready
Growth failure v1.69 SLC30A7 Zornitza Stark Gene: slc30a7 has been classified as Red List (Low Evidence).
Growth failure v1.69 SLC30A7 Zornitza Stark gene: SLC30A7 was added
gene: SLC30A7 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A7 were set to 36821639
Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, MIM# 620501
Review for gene: SLC30A7 was set to RED
Added comment: Two sibs reported with compound het variants in this gene and severe growth failure, testicular hypoplasia and progressive bone marrow failure.
Sources: Expert Review
Mendeliome v1.1142 SLC30A7 Zornitza Stark reviewed gene: SLC30A7: Rating: RED; Mode of pathogenicity: None; Publications: 36821639; Phenotypes: Ziegler-Huang syndrome, MIM# 620501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.282 SOX11 Zornitza Stark Classified gene: SOX11 as Green List (high evidence)
Differences of Sex Development v0.282 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Differences of Sex Development v0.281 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Differences of Sex Development. Sources: Expert Review
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 29459093; 24886874; 33086258; 33785884; 35642566; 35341651
Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866
Review for gene: SOX11 was set to GREEN
Added comment: Over 40 individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism.
Sources: Expert Review
Microcephaly v1.229 SOX11 Zornitza Stark changed review comment from: Over 40 additional individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism.
Sources: Expert Review; to: Over 40 individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism.
Sources: Expert Review
Microcephaly v1.229 SOX11 Zornitza Stark Marked gene: SOX11 as ready
Microcephaly v1.229 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Microcephaly v1.229 SOX11 Zornitza Stark Classified gene: SOX11 as Green List (high evidence)
Microcephaly v1.229 SOX11 Zornitza Stark Gene: sox11 has been classified as Green List (High Evidence).
Microcephaly v1.228 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 29459093; 24886874; 33086258; 33785884; 35642566; 35341651
Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866
Review for gene: SOX11 was set to GREEN
Added comment: Over 40 additional individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism.
Sources: Expert Review
Fetal anomalies v1.139 SOX11 Zornitza Stark reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459093, 24886874, 33086258, 33785884, 35642566, 35341651; Phenotypes: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5383 SOX11 Zornitza Stark Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome 9, OMIM # 615866 to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866
Intellectual disability syndromic and non-syndromic v0.5382 SOX11 Zornitza Stark Publications for gene: SOX11 were set to 24886874; 33785884; 33430815; 33086258; 31530938
Intellectual disability syndromic and non-syndromic v0.5381 SOX11 Zornitza Stark reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459093, 24886874, 33086258, 33785884, 35642566, 35341651; Phenotypes: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1142 SOX11 Zornitza Stark Phenotypes for gene: SOX11 were changed from Coffin-Siris syndrome 9, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866; Congenital abnormalities of the kidneys and urinary tract
Mendeliome v1.1141 SOX11 Zornitza Stark Publications for gene: SOX11 were set to 29459093; 24886874
Mendeliome v1.1140 SOX11 Zornitza Stark edited their review of gene: SOX11: Added comment: Over 40 additional individuals reported, e.g. PMID 35341651. The phenotype that has emerged over time is distinct from patients with mutations in ARID1B (614556) and Coffin-Siris syndrome-1 (135900). Patients with IDDMOH tend to be microcephalic and have ocular motor apraxia, abnormal eye morphology, or hypogonadotropic hypogonadism.; Changed publications: 29459093, 24886874, 33086258, 33785884, 35642566, 35341651
Mendeliome v1.1140 SOX11 Zornitza Stark edited their review of gene: SOX11: Changed phenotypes: Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866, Congenital abnormalities of the kidneys and urinary tract
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Marked gene: ATP5O as ready
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Classified gene: ATP5O as Green List (high evidence)
Genetic Epilepsy v0.1910 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1909 ATP5O Zornitza Stark gene: ATP5O was added
gene: ATP5O was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 35621276; 34954817
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Review for gene: ATP5O was set to GREEN
Added comment: Three unrelated families reported. Presenting features included DD, hypotonia, seizures.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5381 ATP5O Zornitza Stark Classified gene: ATP5O as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5381 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5380 ATP5O Zornitza Stark Classified gene: ATP5O as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5380 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5379 ATP5O Zornitza Stark Marked gene: ATP5O as ready
Intellectual disability syndromic and non-syndromic v0.5379 ATP5O Zornitza Stark Gene: atp5o has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5379 ATP5O Zornitza Stark gene: ATP5O was added
gene: ATP5O was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 35621276; 34954817
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Review for gene: ATP5O was set to GREEN
Added comment: Three unrelated families reported. Presenting features included DD, hypotonia, seizures.
Sources: Expert list
Fetal anomalies v1.139 ATP5O Zornitza Stark Marked gene: ATP5O as ready
Fetal anomalies v1.139 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Fetal anomalies v1.139 ATP5O Zornitza Stark Classified gene: ATP5O as Green List (high evidence)
Fetal anomalies v1.139 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Fetal anomalies v1.138 ATP5O Zornitza Stark gene: ATP5O was added
gene: ATP5O was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 35621276; 34954817
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Review for gene: ATP5O was set to GREEN
Added comment: Prenatal phenotypes reported (IUGR, CHD, oligohydramnios)
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5378 HIKESHI Zornitza Stark Marked gene: HIKESHI as ready
Intellectual disability syndromic and non-syndromic v0.5378 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5378 HIKESHI Zornitza Stark Classified gene: HIKESHI as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5378 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5377 HIKESHI Zornitza Stark gene: HIKESHI was added
gene: HIKESHI was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIKESHI were set to 34111619; 26545878
Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM# 616881
Review for gene: HIKESHI was set to GREEN
Added comment: Over 10 individuals reported with recurrent homozygous c.160G>C;p.(Val54Leu) variant, high carrier frequency in the Ashkenazi Jewish population. Optic atrophy reported in several.
Sources: Expert list
Optic Atrophy v1.22 HIKESHI Zornitza Stark Marked gene: HIKESHI as ready
Optic Atrophy v1.22 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Optic Atrophy v1.22 HIKESHI Zornitza Stark Classified gene: HIKESHI as Green List (high evidence)
Optic Atrophy v1.22 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Optic Atrophy v1.21 HIKESHI Zornitza Stark gene: HIKESHI was added
gene: HIKESHI was added to Optic Atrophy. Sources: Expert list
Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIKESHI were set to 34111619; 26545878
Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM# 616881
Review for gene: HIKESHI was set to GREEN
Added comment: Over 10 individuals reported with recurrent homozygous c.160G>C;p.(Val54Leu) variant, high carrier frequency in the Ashkenazi Jewish population. Optic atrophy reported in several.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Marked gene: MPDZ as ready
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Classified gene: MPDZ as Green List (high evidence)
Anophthalmia_Microphthalmia_Coloboma v1.34 MPDZ Zornitza Stark Gene: mpdz has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.33 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert list
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 28556411; 36429029; 36594712
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, MIM# 615219
Review for gene: MPDZ was set to GREEN
Added comment: PMID:28556411 - Three unrelated patients were reported with biallelic MPDZ variants and congenital hydrocephalus and eye/ brain anomalies. The 2.5 year-old with homozygous variant (p.Gln1490Argfs*19) had macular hypoplasia, 8 year-old boy with compound heterozygous variants (p.Arg744Ter & p.Arg1071Ter) had foveal dysplasia with thin inner retina, and 15-month old boy with homozygous variant (p.Ala1760Thr) had iris coloboma and prominent optic nerve. This 15-month old boy also had cholestasis and liver failure associated with a variant in the TJP2 gene (p.[Leu192Profs*3]).

PMID:36429029 - A Chinese proband with isolated bilateral macular coloboma was identified with compound heterozygous variants (p.Asp1434fs*3 & p.Ser1752Ter). In addition, results from in silico analysis and phenotypes observed in zebrafish knockdown model recapitulate the phenotypes observed in the proband.

PMID:36594712 - A 4 year-old proband presenting with intermittent exotropia and decreased vision in both eyes was identified with compound heterozygous variants in MPDZ gene (c.3100C>T/ p.Arg1034Ter & c.747 + 2T>G). This patient had macular colobomas and far temporal chorioretinal atrophy in both eyes. His 9 year-old older brother with the same variants had a visual acuity of 20/25 in the right eye and 20/40 in the left eye and was found to have subtle changes in the foveal reflex of both eyes.
Sources: Expert list
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Marked gene: PABPC1 as ready
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Gene: pabpc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Classified gene: PABPC1 as Green List (high evidence)
Genetic Epilepsy v0.1908 PABPC1 Zornitza Stark Gene: pabpc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1907 PABPC1 Zornitza Stark gene: PABPC1 was added
gene: PABPC1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PABPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PABPC1 were set to 35511136
Phenotypes for gene: PABPC1 were set to Neurodevelopmental disorder, PABPC1-related (MONDO#0700092)
Review for gene: PABPC1 was set to GREEN
Added comment: PMID: 35511136 - 4 probands with an overlapping phenotype of DD, expressive speech delay, and autistic features and heterozygous de novo variants that cluster in the PABP domain of PABPC1. Intellectual disability ranged in the cases from profound (1/4), IQ: 61 (1/4) and IQ: 79 (2/4). Seizures were apparent in the all of the three cases where it was assessed.

Electroporation of mouse embryo brains showed that Pabpc1 knockdown decreases the proliferation of neural progenitor cells. Wild-type Pabpc1 could rescue this disturbance, whereas 3 of the 4 variants did not.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.5376 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Intellectual disability syndromic and non-syndromic v0.5376 FAM111A Zornitza Stark Gene: fam111a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5376 FAM111A Zornitza Stark Phenotypes for gene: FAM111A were changed from to Kenny-Caffey syndrome, type 2, MIM# 127000
Intellectual disability syndromic and non-syndromic v0.5375 FAM111A Zornitza Stark Mode of inheritance for gene: FAM111A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5374 FAM111A Zornitza Stark Classified gene: FAM111A as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5374 FAM111A Zornitza Stark Gene: fam111a has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5373 FAM111A Zornitza Stark reviewed gene: FAM111A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.137 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from Syndromic intellectual disability; short stature to Syndromic disease, MONDO:0002254, RAP1B-related
Growth failure v1.68 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from Syndromic intellectual disability; short stature to Syndromic disease, MONDO:0002254, RAP1B-related
Growth failure v1.67 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed phenotypes: Syndromic disease, MONDO:0002254, RAP1B-related
Intellectual disability syndromic and non-syndromic v0.5373 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from RAP1B‐associated phenotype, no OMIM # to Syndromic disease, MONDO:0002254, RAP1B-related
Intellectual disability syndromic and non-syndromic v0.5372 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed phenotypes: Syndromic disease, MONDO:0002254, RAP1B-related
Mendeliome v1.1140 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from RAP1B‐associated syndrome; intellectual disability; microcephaly; thrombocytopaenia to Syndromic disease, MONDO:0002254, RAP1B-related; intellectual disability; microcephaly; thrombocytopaenia
Kabuki syndrome v0.14 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from Kabuki syndrome to Syndromic disease, MONDO:0002254, RAP1B-related; Kabuki-like syndrome
Kabuki syndrome v0.13 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed phenotypes: Syndromic disease, MONDO:0002254, RAP1B-related, Kabuki-like syndrome
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.49 RAP1B Zornitza Stark gene: RAP1B was added
gene: RAP1B was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to 35451551; 32627184; 26280580
Phenotypes for gene: RAP1B were set to Syndromic disease, MONDO:0002254, RAP1B-related
Review for gene: RAP1B was set to AMBER
Added comment: PMID: 32627184 describes 2 patients.
36 yo patient of non-consanguineous parents. Had unclear pancytopenia, multiple congenital malformations, mild intellectual disability, endocrine disorders (short stature with growth hormone deficiency), dysmorphism and other features. Parents and sibling unaffected.
13 yo of non-consanguineous parents with thrombocytopenia, multiple congenital anomalies and learning difficulties. He had normal developmental milestones, walk was achieved at 14 months and there was no speech delay. He attended mainstream school with auxiliary help because of learning difficulties with graphism, syntaxic comprehension, logical reasoning and attention deficit. Parents and siblings unaffected.

PMID: 26280580 describes another patient with variant in RAP1B. The clinical features can be found in supplementary table 2. The table lists ID, but doesn't say severity and lists a host of other features including short stature, facial dysmorphism and skeletal findings. Cytopenia is not a feature for this patient.

PMID 35451551: New patient reported with mild intellectual disability, bicuspid aortic valve, dilation of aortic root and ascending aorta, hearing loss, and long‐standing thrombocytopenia with lymphopenia. Found to have a novel, missense mutation in RAP1B (p.Ala59Gly) - neighbouring amino acid to one of the previously reported variants.
Sources: Expert list
Microcephaly v1.227 ATP6V0C Zornitza Stark Marked gene: ATP6V0C as ready
Microcephaly v1.227 ATP6V0C Zornitza Stark Gene: atp6v0c has been classified as Green List (High Evidence).
Microcephaly v1.227 ATP6V0C Zornitza Stark Classified gene: ATP6V0C as Green List (high evidence)
Microcephaly v1.227 ATP6V0C Zornitza Stark Gene: atp6v0c has been classified as Green List (High Evidence).
Microcephaly v1.226 ATP6V0C Zornitza Stark gene: ATP6V0C was added
gene: ATP6V0C was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V0C were set to 33190975; 33090716; 36074901
Phenotypes for gene: ATP6V0C were set to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Review for gene: ATP6V0C was set to GREEN
Added comment: PMID:36074901 - 5 out of 27 patients had severe microcephaly (having occipitofrontal circumference (OFC) beyond 3 SD below the mean for their age).
Sources: Expert Review
Microcephaly v1.225 HPDL Zornitza Stark Marked gene: HPDL as ready
Microcephaly v1.225 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Microcephaly v1.225 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Microcephaly v1.225 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5372 ATP5E Zornitza Stark Tag new gene name tag was added to gene: ATP5E.
Intellectual disability syndromic and non-syndromic v0.5372 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Intellectual disability syndromic and non-syndromic v0.5372 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5372 ATP5E Zornitza Stark Classified gene: ATP5E as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5372 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.20 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Optic Atrophy v1.20 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Optic Atrophy v1.20 PTCD3 Zornitza Stark Classified gene: PTCD3 as Green List (high evidence)
Optic Atrophy v1.20 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Optic Atrophy v1.19 PTCD3 Zornitza Stark gene: PTCD3 was added
gene: PTCD3 was added to Optic Atrophy. Sources: Expert list
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859; 36450274
Phenotypes for gene: PTCD3 were set to Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to GREEN
Added comment: Four families reported plus functional data. Optic atrophy is a feature.
Sources: Expert list
Mendeliome v1.1139 PTCD3 Zornitza Stark Publications for gene: PTCD3 were set to 30607703; 19427859
Mendeliome v1.1138 PTCD3 Zornitza Stark Classified gene: PTCD3 as Green List (high evidence)
Mendeliome v1.1138 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5371 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Intellectual disability syndromic and non-syndromic v0.5371 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5371 PTCD3 Zornitza Stark Classified gene: PTCD3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5371 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5370 PTCD3 Zornitza Stark gene: PTCD3 was added
gene: PTCD3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859; 36450274
Phenotypes for gene: PTCD3 were set to Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to GREEN
Added comment: Four families and functional data. ID is a feature.
Sources: Expert Review
Mendeliome v1.1137 PTCD3 Zornitza Stark edited their review of gene: PTCD3: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 30607703, 19427859, 36450274
Mitochondrial disease v0.889 PTCD3 Zornitza Stark Publications for gene: PTCD3 were set to 30607703; 19427859
Mitochondrial disease v0.888 PTCD3 Zornitza Stark Classified gene: PTCD3 as Green List (high evidence)
Mitochondrial disease v0.888 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Severe early-onset obesity v1.9 ADCY3 Achchuthan Shanmugasundram changed review comment from: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.

PMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.

PMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.; to: PMID:29311636 - Founder canonical splice variant (c.2433-1G>A) reported in Greenlandic populations demonstrate higher risk of obesity and type 2 diabetes in homozygous individuals.

PMID:29311637 - Four children from three consanguineous Pakistani families were reported with severe early-onset obesity and identified with three different homozygous variants in ADCY3 gene. In addition, an obese boy of European-American descent was identified with heterozygous ADCY3 variants.

PMID:35026759 - Two additional heterozygous variants (c.1658C>T/ p.Ala553Val & c.489C>G/ p.His163Gln) were identified in six Qatari individuals with obesity. However, the authors of this publication struggle to draw a conclusion on the impact of the dominant effect of the variants due to the genetic and biological overlap between monogenic and the common form of obesity.

The phenotypes of biallelic variants appear severe and early-onset. The age of patients with monoallelic variants ranged from 28 and 57 and its was not clear whether the patients had either monogenic or common form of obesity. Hence, the MOI should be set as "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".
Mitochondrial disease v0.887 PTCD3 Zornitza Stark edited their review of gene: PTCD3: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 36450274
Severe early-onset obesity v1.9 ADCY3 Achchuthan Shanmugasundram reviewed gene: ADCY3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29311636, 29311637, 35026759; Phenotypes: {Obesity, susceptibility to, BMIQ19}, OMIM:617885; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.1137 MRM2 Zornitza Stark Phenotypes for gene: MRM2 were changed from MELAS-like to Mitochondrial DNA depletion syndrome 17, MIM# 618567
Mendeliome v1.1136 MRM2 Zornitza Stark Classified gene: MRM2 as Green List (high evidence)
Mendeliome v1.1136 MRM2 Zornitza Stark Gene: mrm2 has been classified as Green List (High Evidence).
Mendeliome v1.1135 MRM2 Zornitza Stark edited their review of gene: MRM2: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 28973171, 36002240; Changed phenotypes: Mitochondrial DNA depletion syndrome 17, MIM# 618567
Mitochondrial disease v0.887 MRM2 Zornitza Stark Phenotypes for gene: MRM2 were changed from MELAS-like to Mitochondrial DNA depletion syndrome 17, MIM# 618567
Mitochondrial disease v0.886 MRM2 Zornitza Stark Publications for gene: MRM2 were set to 28973171
Mitochondrial disease v0.885 MRM2 Zornitza Stark Classified gene: MRM2 as Green List (high evidence)
Mitochondrial disease v0.885 MRM2 Zornitza Stark Gene: mrm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.884 MRM2 Zornitza Stark edited their review of gene: MRM2: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 28973171, 36002240
Mendeliome v1.1135 COX5A Zornitza Stark Publications for gene: COX5A were set to 2824752
Mendeliome v1.1134 COX5A Zornitza Stark Classified gene: COX5A as Amber List (moderate evidence)
Mendeliome v1.1134 COX5A Zornitza Stark Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1133 COX5A Zornitza Stark edited their review of gene: COX5A: Added comment: Second family reported, albeit hmz missense.; Changed rating: AMBER; Changed publications: 35246835, 28247525
Mitochondrial disease v0.884 COX5A Zornitza Stark Publications for gene: COX5A were set to 28247525; 35246835
Mitochondrial disease v0.884 COX5A Zornitza Stark Publications for gene: COX5A were set to 28247525
Mitochondrial disease v0.883 COX5A Zornitza Stark Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disease v0.883 COX5A Zornitza Stark Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.882 COX5A Zornitza Stark edited their review of gene: COX5A: Added comment: Second family reported, albeit hmz missense.; Changed rating: AMBER; Changed publications: 35246835
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Classified gene: UQCRB as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.167 UQCRB Zornitza Stark Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.166 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12709789, 25446085, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1133 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217 to Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related; Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217
Mendeliome v1.1132 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1131 CRELD1 Zornitza Stark Classified gene: CRELD1 as Green List (high evidence)
Mendeliome v1.1131 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Mendeliome v1.1130 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Added comment: Emerging association between bi-alleic variants in CRELD1 and DEE.; Changed rating: GREEN; Changed phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related, Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Classified gene: CRELD1 as Green List (high evidence)
Genetic Epilepsy v0.1906 CRELD1 Zornitza Stark Gene: creld1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1905 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRELD1 were set to Developmental and epileptic encephalopathy, MONDO:0100062, CRELD1-related
Review for gene: CRELD1 was set to GREEN
Added comment: Emerging evidence of association between bi-allelic variants and DEE (>10 families).
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5369 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Intellectual disability syndromic and non-syndromic v0.5369 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5369 ASS1 Zornitza Stark Phenotypes for gene: ASS1 were changed from to Citrullinemia MIM#215700
Intellectual disability syndromic and non-syndromic v0.5368 ASS1 Zornitza Stark Mode of inheritance for gene: ASS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5367 ASS1 Zornitza Stark reviewed gene: ASS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia MIM#215700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5367 ASPA Zornitza Stark Marked gene: ASPA as ready
Intellectual disability syndromic and non-syndromic v0.5367 ASPA Zornitza Stark Gene: aspa has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5367 ASPA Zornitza Stark Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900
Intellectual disability syndromic and non-syndromic v0.5366 ASPA Zornitza Stark Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5365 ASPA Zornitza Stark reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5365 ARX Zornitza Stark Marked gene: ARX as ready
Intellectual disability syndromic and non-syndromic v0.5365 ARX Zornitza Stark Gene: arx has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5365 ARX Zornitza Stark Phenotypes for gene: ARX were changed from to Lissencephaly, X-linked 2, MIM# 300215
Intellectual disability syndromic and non-syndromic v0.5364 ARX Zornitza Stark Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5363 ARX Zornitza Stark reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked 2, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5363 ARV1 Zornitza Stark Marked gene: ARV1 as ready
Intellectual disability syndromic and non-syndromic v0.5363 ARV1 Zornitza Stark Gene: arv1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5363 ARV1 Zornitza Stark Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, MIM# 617020
Intellectual disability syndromic and non-syndromic v0.5362 ARV1 Zornitza Stark Publications for gene: ARV1 were set to
Intellectual disability syndromic and non-syndromic v0.5361 ARV1 Zornitza Stark Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5360 ARV1 Zornitza Stark reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065; Phenotypes: Developmental and epileptic encephalopathy 38, MIM# 617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5360 ARID1A Zornitza Stark Marked gene: ARID1A as ready
Intellectual disability syndromic and non-syndromic v0.5360 ARID1A Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5360 ARID1A Zornitza Stark Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome 2 (MIM#614607)
Intellectual disability syndromic and non-syndromic v0.5359 ARID1A Zornitza Stark Publications for gene: ARID1A were set to
Intellectual disability syndromic and non-syndromic v0.5358 ARID1A Zornitza Stark Mode of inheritance for gene: ARID1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1904 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Genetic Epilepsy v0.1904 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Genetic Epilepsy v0.1903 UBAP2L Zornitza Stark edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
Mendeliome v1.1130 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
Mendeliome v1.1129 UBAP2L Zornitza Stark edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
Intellectual disability syndromic and non-syndromic v0.5357 UBAP2L Zornitza Stark Phenotypes for gene: UBAP2L were changed from Neurodevelopmental disorder, MONDO:0700092, UBAP2L-related; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system to Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494; Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Seizures; Microcephaly; Abnormality of head or neck; Short stature; Abnormality of the skeletal system
Intellectual disability syndromic and non-syndromic v0.5356 UBAP2L Zornitza Stark edited their review of gene: UBAP2L: Changed phenotypes: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494
Intellectual disability syndromic and non-syndromic v0.5356 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Intellectual disability syndromic and non-syndromic v0.5356 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5356 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Intellectual disability syndromic and non-syndromic v0.5355 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Intellectual disability syndromic and non-syndromic v0.5354 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5353 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.504 AMT Zornitza Stark Marked gene: AMT as ready
Callosome v0.504 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Callosome v0.504 AMT Zornitza Stark Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899
Callosome v0.503 AMT Zornitza Stark Publications for gene: AMT were set to
Callosome v0.502 AMT Zornitza Stark Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.501 AMT Zornitza Stark reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791923; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5353 AMT Zornitza Stark Marked gene: AMT as ready
Intellectual disability syndromic and non-syndromic v0.5353 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5353 AMT Zornitza Stark Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899
Intellectual disability syndromic and non-syndromic v0.5352 AMT Zornitza Stark Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5351 AMT Zornitza Stark reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5351 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Intellectual disability syndromic and non-syndromic v0.5351 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5351 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from to Spastic paraplegia 9B, autosomal recessive, MIM# 616586
Intellectual disability syndromic and non-syndromic v0.5350 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5349 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 9B, autosomal recessive, MIM# 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5349 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Intellectual disability syndromic and non-syndromic v0.5349 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5349 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Intellectual disability syndromic and non-syndromic v0.5348 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5347 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, 300816, Cowchock syndrome, 310490, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.5347 ADSL Zornitza Stark Marked gene: ADSL as ready
Intellectual disability syndromic and non-syndromic v0.5347 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5347 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency, MIM# 103050
Intellectual disability syndromic and non-syndromic v0.5346 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5345 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
Intellectual disability syndromic and non-syndromic v0.5345 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Intellectual disability syndromic and non-syndromic v0.5345 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5345 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM# 606854
Intellectual disability syndromic and non-syndromic v0.5344 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Intellectual disability syndromic and non-syndromic v0.5343 ADGRG1 Zornitza Stark Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5342 ADGRG1 Zornitza Stark Tag 5'UTR tag was added to gene: ADGRG1.
Intellectual disability syndromic and non-syndromic v0.5342 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336; Phenotypes: Polymicrogyria, bilateral frontoparietal 606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5342 NEUROG1 Zornitza Stark Marked gene: NEUROG1 as ready
Intellectual disability syndromic and non-syndromic v0.5342 NEUROG1 Zornitza Stark Gene: neurog1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5342 NEUROG1 Zornitza Stark Classified gene: NEUROG1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5342 NEUROG1 Zornitza Stark Gene: neurog1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5341 NEUROG1 Zornitza Stark gene: NEUROG1 was added
gene: NEUROG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Phenotypes for gene: NEUROG1 were set to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Review for gene: NEUROG1 was set to GREEN
Added comment: There are four unrelated cases reported with global developmental delay/ intellectual disability.

PMID:23419067 - A homozygous micro deletion of NEUROG1 was identified in a six year-old boy presenting with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild global developmental delay. His IQ was normal.

PMID:26077850 - A homozygous NEUROG1 variant (p.Arg116Leu) was identified in a 12 year-old boy presented with syndromic corneal opacity, mild intellectual disability and absent corneal reflex.

PMID:33439489 - A homozygous loss-of-function variant (p.Glu68Ter) was identified in a 12 year-old boy presenting with hypotonia, global developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. This patient had a global IQ of 62 at the age of ten.

PMID:36647078 - A female proband was identified with a novel homozygous truncating frameshift variant (p.Thr78ProfsTer122 and was reported with profound global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her sister also had a similar, but less severe phenotype and also harboured the same variant at homozygous state.
Sources: Literature
Mendeliome v1.1129 NEUROG1 Zornitza Stark Marked gene: NEUROG1 as ready
Mendeliome v1.1129 NEUROG1 Zornitza Stark Gene: neurog1 has been classified as Green List (High Evidence).
Mendeliome v1.1129 NEUROG1 Zornitza Stark Classified gene: NEUROG1 as Green List (high evidence)
Mendeliome v1.1129 NEUROG1 Zornitza Stark Gene: neurog1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5340 SRSF1 Zornitza Stark Phenotypes for gene: SRSF1 were changed from Neurodevelopmental disorder, SRSF1-related MONDO:0700092 to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489
Intellectual disability syndromic and non-syndromic v0.5339 SRSF1 Zornitza Stark reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1128 SRSF1 Zornitza Stark Phenotypes for gene: SRSF1 were changed from Neurodevelopmental disorder, SRSF1-related MONDO:0700092 to Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489
Mendeliome v1.1127 SRSF1 Zornitza Stark reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity v0.17 TPM4 Zornitza Stark Phenotypes for gene: TPM4 were changed from leeding disorder, platelet-type, 25, MIM# 620486 to Bleeding disorder, platelet-type, 25, MIM# 620486
Transplant Co-Morbidity v0.16 TPM4 Zornitza Stark Marked gene: TPM4 as ready
Transplant Co-Morbidity v0.16 TPM4 Zornitza Stark Gene: tpm4 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.16 TPM4 Zornitza Stark Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to leeding disorder, platelet-type, 25, MIM# 620486
Transplant Co-Morbidity v0.15 TPM4 Zornitza Stark reviewed gene: TPM4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486; Mode of inheritance: None
Mendeliome v1.1127 TPM4 Zornitza Stark Phenotypes for gene: TPM4 were changed from Macrothrombocytopaenia to Bleeding disorder, platelet-type, 25, MIM# 620486
Mendeliome v1.1126 TPM4 Zornitza Stark edited their review of gene: TPM4: Changed phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486
Bleeding and Platelet Disorders v1.26 TPM4 Zornitza Stark Phenotypes for gene: TPM4 were changed from Macrothrombocytopenia to Bleeding disorder, platelet-type, 25, MIM# 620486
Bleeding and Platelet Disorders v1.25 TPM4 Zornitza Stark edited their review of gene: TPM4: Changed phenotypes: Bleeding disorder, platelet-type, 25, MIM# 620486
Mendeliome v1.1126 PTPRJ Zornitza Stark Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484
Mendeliome v1.1125 PTPRJ Zornitza Stark edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopenia 10, MIM# 620484
Bleeding and Platelet Disorders v1.25 PTPRJ Zornitza Stark Phenotypes for gene: PTPRJ were changed from Thrombocytopaenia to Thrombocytopenia 10, MIM# 620484
Bleeding and Platelet Disorders v1.24 PTPRJ Zornitza Stark edited their review of gene: PTPRJ: Changed phenotypes: Thrombocytopenia 10, MIM# 620484
Bone Marrow Failure v1.48 THPO Zornitza Stark Marked gene: THPO as ready
Bone Marrow Failure v1.48 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bone Marrow Failure v1.48 THPO Zornitza Stark Classified gene: THPO as Green List (high evidence)
Bone Marrow Failure v1.48 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bone Marrow Failure v1.47 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Bone Marrow Failure. Sources: Expert Review
Mode of inheritance for gene: THPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THPO were set to 24085763; 28559357; 29191945; 36226497
Phenotypes for gene: THPO were set to Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Review for gene: THPO was set to GREEN
Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.
Sources: Expert Review
Mendeliome v1.1125 THPO Zornitza Stark edited their review of gene: THPO: Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.; Changed publications: 9425899, 10583217, 32150607, 28466964, 24085763, 28559357, 29191945, 36226497; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478, Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.24 THPO Zornitza Stark Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478; Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Bleeding and Platelet Disorders v1.23 THPO Zornitza Stark Publications for gene: THPO were set to 9425899; 10583217; 32150607; 28466964
Bleeding and Platelet Disorders v1.22 THPO Zornitza Stark edited their review of gene: THPO: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.22 THPO Zornitza Stark Mode of inheritance for gene: THPO was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.21 THPO Zornitza Stark edited their review of gene: THPO: Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.; Changed publications: 9425899, 10583217, 32150607, 28466964, 24085763, 28559357, 29191945, 36226497; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478, Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5339 CCDC115 Elena Savva Classified gene: CCDC115 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5339 CCDC115 Elena Savva Gene: ccdc115 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5339 CCDC115 Elena Savva Classified gene: CCDC115 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5339 CCDC115 Elena Savva Gene: ccdc115 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5338 CCDC115 Elena Savva Marked gene: CCDC115 as ready
Intellectual disability syndromic and non-syndromic v0.5338 CCDC115 Elena Savva Gene: ccdc115 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5338 CCDC115 Elena Savva gene: CCDC115 was added
gene: CCDC115 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo MIM# 616828
Review for gene: CCDC115 was set to GREEN
Added comment: Added following CAM discussion
Sources: Literature
Mendeliome v1.1125 NEUROG1 Achchuthan Shanmugasundram gene: NEUROG1 was added
gene: NEUROG1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NEUROG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROG1 were set to 23419067; 26077850; 33439489; 36647078
Phenotypes for gene: NEUROG1 were set to Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Review for gene: NEUROG1 was set to GREEN
Added comment: There are four unrelated cases reported with global developmental delay/ intellectual disability. Hence, this gene can be added with green rating in the intellectual disability panel.

PMID:23419067 - A homozygous micro deletion of NEUROG1 was identified in a six year-old boy presenting with profound sensorineural deafness, balance disorder, severe disorder of oral motor function, and mild global developmental delay. His IQ was normal.

PMID:26077850 - A homozygous NEUROG1 variant (p.Arg116Leu) was identified in a 12 year-old boy presented with syndromic corneal opacity, mild intellectual disability and absent corneal reflex.

PMID:33439489 - A homozygous loss-of-function variant (p.Glu68Ter) was identified in a 12 year-old boy presenting with hypotonia, global developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. This patient had a global IQ of 62 at the age of ten.

PMID:36647078 - A female proband was identified with a novel homozygous truncating frameshift variant (p.Thr78ProfsTer122 and was reported with profound global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her sister also had a similar, but less severe phenotype and also harboured the same variant at homozygous state.

This gene has been associated with relevant phenotypes in OMIM (MIM #620469), but not in Gene2Phenotype.
Sources: Literature
Early-onset Parkinson disease v0.260 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration MONDO:0009319 to pantothenate kinase-associated neurodegeneration MONDO:0009319
Early-onset Parkinson disease v0.259 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Early-onset Parkinson disease v0.259 PANK2 Zornitza Stark Gene: pank2 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.259 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration MONDO:0009319 to pantothenate kinase-associated neurodegeneration MONDO:0009319
Early-onset Parkinson disease v0.258 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from to pantothenate kinase-associated neurodegeneration MONDO:0009319
Early-onset Parkinson disease v0.257 PANK2 Zornitza Stark Publications for gene: PANK2 were set to
Early-onset Parkinson disease v0.256 PANK2 Zornitza Stark Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.255 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Early-onset Parkinson disease v0.255 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.255 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from to autosomal recessive Parkinson disease 14 MONDO:0013060
Early-onset Parkinson disease v0.254 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Early-onset Parkinson disease v0.253 PLA2G6 Zornitza Stark Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.252 POLG Zornitza Stark Marked gene: POLG as ready
Early-onset Parkinson disease v0.252 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.252 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to autosomal dominant progressive external ophthalmoplegia MONDO:0008003
Early-onset Parkinson disease v0.251 POLG Zornitza Stark Publications for gene: POLG were set to
Early-onset Parkinson disease v0.250 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.249 PRKRA Zornitza Stark Marked gene: PRKRA as ready
Early-onset Parkinson disease v0.249 PRKRA Zornitza Stark Gene: prkra has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.249 PRKRA Zornitza Stark Phenotypes for gene: PRKRA were changed from to dystonia 16 MONDO:0012789
Early-onset Parkinson disease v0.248 PRKRA Zornitza Stark Publications for gene: PRKRA were set to
Early-onset Parkinson disease v0.247 PRKRA Zornitza Stark Mode of inheritance for gene: PRKRA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.246 PRNP Zornitza Stark Marked gene: PRNP as ready
Early-onset Parkinson disease v0.246 PRNP Zornitza Stark Gene: prnp has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.246 PRNP Zornitza Stark Phenotypes for gene: PRNP were changed from to inherited Creutzfeldt-Jakob disease MONDO:0007403; Gerstmann-Straussler-Scheinker syndrome MONDO:0007656
Early-onset Parkinson disease v0.245 PRNP Zornitza Stark Publications for gene: PRNP were set to
Early-onset Parkinson disease v0.244 PRNP Zornitza Stark Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1125 STAT5B Zornitza Stark Tag somatic tag was added to gene: STAT5B.
Mendeliome v1.1125 STAT5B Zornitza Stark changed review comment from: Both bi-allelic and mono allelic (GoF) inheritance reported. AD GoF phenotype: increased IgE, growth failure, eczema but no immune defects compared to AR phenotype (modestly decreased T cells, reduced Tregs and function, hypergammaglobulinaemia, increased IgE).; to: Both bi-allelic and mono allelic (GoF) inheritance reported. AD GoF phenotype: increased IgE, growth failure, eczema but no immune defects compared to AR phenotype (modestly decreased T cells, reduced Tregs and function, hypergammaglobulinaemia, increased IgE).

Somatic variants also reported.
Combined Immunodeficiency v1.43 STAT5B Zornitza Stark Tag somatic tag was added to gene: STAT5B.
Mendeliome v1.1125 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Motor Neurone Disease v1.5 SQSTM1 Bryony Thompson Mode of inheritance for gene: SQSTM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity v0.15 TPMT Bryony Thompson Classified gene: TPMT as Green List (high evidence)
Transplant Co-Morbidity v0.15 TPMT Bryony Thompson Gene: tpmt has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.14 SLCO1B1 Bryony Thompson Marked gene: SLCO1B1 as ready
Transplant Co-Morbidity v0.14 SLCO1B1 Bryony Thompson Gene: slco1b1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.14 SLCO1B1 Bryony Thompson Classified gene: SLCO1B1 as Green List (high evidence)
Transplant Co-Morbidity v0.14 SLCO1B1 Bryony Thompson Gene: slco1b1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.13 NUDT15 Bryony Thompson Marked gene: NUDT15 as ready
Transplant Co-Morbidity v0.13 NUDT15 Bryony Thompson Gene: nudt15 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.13 NUDT15 Bryony Thompson Classified gene: NUDT15 as Green List (high evidence)
Transplant Co-Morbidity v0.13 NUDT15 Bryony Thompson Gene: nudt15 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.12 MT-RNR1 Bryony Thompson Marked gene: MT-RNR1 as ready
Transplant Co-Morbidity v0.12 MT-RNR1 Bryony Thompson Gene: mt-rnr1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.12 MT-RNR1 Bryony Thompson Classified gene: MT-RNR1 as Green List (high evidence)
Transplant Co-Morbidity v0.12 MT-RNR1 Bryony Thompson Gene: mt-rnr1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.11 IFNL3 Bryony Thompson Marked gene: IFNL3 as ready
Transplant Co-Morbidity v0.11 IFNL3 Bryony Thompson Gene: ifnl3 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.11 IFNL3 Bryony Thompson Classified gene: IFNL3 as Green List (high evidence)
Transplant Co-Morbidity v0.11 IFNL3 Bryony Thompson Gene: ifnl3 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.10 DPYD Bryony Thompson Marked gene: DPYD as ready
Transplant Co-Morbidity v0.10 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.10 DPYD Bryony Thompson Classified gene: DPYD as Green List (high evidence)
Transplant Co-Morbidity v0.10 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.9 CYP4F2 Bryony Thompson Marked gene: CYP4F2 as ready
Transplant Co-Morbidity v0.9 CYP4F2 Bryony Thompson Gene: cyp4f2 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.9 CYP4F2 Bryony Thompson Classified gene: CYP4F2 as Green List (high evidence)
Transplant Co-Morbidity v0.9 CYP4F2 Bryony Thompson Gene: cyp4f2 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.8 UGT1A1 Bryony Thompson Marked gene: UGT1A1 as ready
Transplant Co-Morbidity v0.8 UGT1A1 Bryony Thompson Gene: ugt1a1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.8 UGT1A1 Bryony Thompson Classified gene: UGT1A1 as Green List (high evidence)
Transplant Co-Morbidity v0.8 UGT1A1 Bryony Thompson Gene: ugt1a1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.7 CYP3A5 Bryony Thompson Marked gene: CYP3A5 as ready
Transplant Co-Morbidity v0.7 CYP3A5 Bryony Thompson Gene: cyp3a5 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.7 CYP3A5 Bryony Thompson Classified gene: CYP3A5 as Green List (high evidence)
Transplant Co-Morbidity v0.7 CYP3A5 Bryony Thompson Gene: cyp3a5 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.6 CYP2C9 Bryony Thompson Marked gene: CYP2C9 as ready
Transplant Co-Morbidity v0.6 CYP2C9 Bryony Thompson Gene: cyp2c9 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.6 CYP2C9 Bryony Thompson Classified gene: CYP2C9 as Green List (high evidence)
Transplant Co-Morbidity v0.6 CYP2C9 Bryony Thompson Gene: cyp2c9 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.5 CYP2C19 Bryony Thompson Marked gene: CYP2C19 as ready
Transplant Co-Morbidity v0.5 CYP2C19 Bryony Thompson Gene: cyp2c19 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.5 CYP2C19 Bryony Thompson Classified gene: CYP2C19 as Green List (high evidence)
Transplant Co-Morbidity v0.5 CYP2C19 Bryony Thompson Gene: cyp2c19 has been classified as Green List (High Evidence).
Cerebral Palsy v1.187 FBXO31 Ain Roesley Phenotypes for gene: FBXO31 were changed from Cerebral palsy to Cerebral palsy, MONDO:0006497, FBXO31-related
Combined Immunodeficiency v1.43 STAT5B Peter McNaughton reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27956386; Phenotypes: Eosinophilia; Mode of inheritance: Other
Intellectual disability syndromic and non-syndromic v0.5337 FBXO31 Ain Roesley reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: None; Publications: 35019165, 24623383; Phenotypes: intellectual developmental disorder 45 (MIM#615979); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Haem degradation and bilirubin metabolism defects v0.15 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM# 176200 to Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483
Haem degradation and bilirubin metabolism defects v0.14 PPOX Zornitza Stark Publications for gene: PPOX were set to 27982422
Haem degradation and bilirubin metabolism defects v0.13 PPOX Zornitza Stark edited their review of gene: PPOX: Changed publications: 9811936, 11286631, 33159949
Haem degradation and bilirubin metabolism defects v0.13 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.3 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM# 176200 to Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483
Hereditary Neuropathy v1.2 PPOX Zornitza Stark Publications for gene: PPOX were set to
Hereditary Neuropathy v1.1 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v1.0 PPOX Zornitza Stark edited their review of gene: PPOX: Added comment: Bi-allelic variants cause childhood onset disease.; Changed publications: 9811936, 11286631, 33159949; Changed phenotypes: Porphyria variegata, MIM# 176200, Variegate porphyria, childhood-onset, MIM# 620483; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Photosensitivity Syndromes v1.7 PPOX Zornitza Stark Publications for gene: PPOX were set to 12357337; 32247286; 23324528
Photosensitivity Syndromes v1.6 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Photosensitivity Syndromes v1.5 PPOX Zornitza Stark reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 9811936, 11286631, 33159949; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1124 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata , MIM#176200 to Porphyria variegata , MIM#176200; Variegate porphyria, childhood-onset, MIM# 620483
Mendeliome v1.1123 PPOX Zornitza Stark Publications for gene: PPOX were set to 12357337; 32247286; 23324528; 27982422
Mendeliome v1.1122 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1121 PPOX Zornitza Stark edited their review of gene: PPOX: Added comment: Bi-allelic variants cause childhood onset disease.; Changed publications: 12357337, 32247286, 23324528, 27982422, 9811936, 11286631, 33159949; Changed phenotypes: Porphyria variegata , MIM#176200, Variegate porphyria, childhood-onset, MIM# 620483; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1121 THPO Zornitza Stark Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478
Mendeliome v1.1120 THPO Zornitza Stark Publications for gene: THPO were set to 9425899; 10583217
Mendeliome v1.1119 THPO Zornitza Stark edited their review of gene: THPO: Added comment: Thrombocytopenia: 5 unrelated families reported.; Changed publications: 9425899, 10583217, 32150607, 28466964; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478
Bleeding and Platelet Disorders v1.21 THPO Zornitza Stark Publications for gene: THPO were set to 9425899; 10583217
Bleeding and Platelet Disorders v1.20 THPO Zornitza Stark Phenotypes for gene: THPO were changed from Thrombocythemia 1, MIM# 187950 to Thrombocythemia 1, MIM# 187950; Thrombocytopenia 9, MIM# 620478
Bleeding and Platelet Disorders v1.19 THPO Zornitza Stark edited their review of gene: THPO: Added comment: Thrombocytopenia: 5 unrelated families reported.; Changed publications: 9425899, 10583217, 32150607, 28466964; Changed phenotypes: Thrombocythemia 1, MIM# 187950, Thrombocytopenia 9, MIM# 620478
Intellectual disability syndromic and non-syndromic v0.5337 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1, MIM# 243310; ACTB-related neurodevelopment disorder to Baraitser-Winter syndrome 1, MIM# 243310; Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475; ACTB-related neurodevelopment disorder
Intellectual disability syndromic and non-syndromic v0.5336 ACTB Zornitza Stark edited their review of gene: ACTB: Changed phenotypes: Baraitser-Winter syndrome 1 243310, ACTB-related neurodevelopment disorder, Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Mendeliome v1.1119 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1 243310; ACTB-related neurodevelopment disorder to Baraitser-Winter syndrome 1 243310; Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475; ACTB-related neurodevelopment disorder
Mendeliome v1.1118 ACTB Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bleeding and Platelet Disorders v1.19 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Syndromic thrombocytopaenia to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Bleeding and Platelet Disorders v1.18 ACTB Zornitza Stark edited their review of gene: ACTB: Changed phenotypes: Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Early-onset Parkinson disease v0.243 PSEN1 Kaitlyn Dianna Weldon reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3548932, 34843019, 36825052; Phenotypes: early-onset parkinsons disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity v0.4 MT-RNR1 Claire Fryer-Smith gene: MT-RNR1 was added
gene: MT-RNR1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Deafness, mitochondrial, modifier of MIM# 580000
Review for gene: MT-RNR1 was set to GREEN
Added comment: Multiple variations within the MT-RNR1 gene have been associated with the development of hearing loss in patients who receive aminoglycoside antibiotics. Aminoglycosides are a class of antibiotics that includes drugs such as streptomycin, kanamycin, gentamycin and tobramycin, among others.

https://www.pharmgkb.org/gene/PA31274

The 1555A>G variation in the MT-RNR1 gene is strongly associated with the development of bilateral, sensorineural, nonsyndromic hearing loss following aminoglycoside antibiotic use: across 40 studies in either family pedigrees or groups of patients with hearing loss, 100% of those with the MT-RNR1 1555G variant who received an aminoglycoside antibiotic developed hearing loss. (PMID:9164619)
Sources: Expert list
Transplant Co-Morbidity v0.4 G6PD Claire Fryer-Smith reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic anemia, G6PD deficient (favism) MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early-onset Parkinson disease v0.243 PRNP Kaitlyn Dianna Weldon reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301407; Phenotypes: inherited Creutzfeldt-Jakob disease MONDO:0007403, Gerstmann-Straussler-Scheinker syndrome MONDO:0007656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Prepair 1000+ v1.1 AMN Crystle Lee gene: AMN was added
gene: AMN was added to Prepair 1000+. Sources: Literature
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 (MIM#618882)
Review for gene: AMN was set to AMBER
Added comment: Well established gene-disease association.

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

Clinical features include failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections.
Sources: Literature
Transplant Co-Morbidity v0.4 IFNL3 Claire Fryer-Smith gene: IFNL3 was added
gene: IFNL3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: IFNL3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IFNL3 were set to 19749758; 19684573; 24752298
Phenotypes for gene: IFNL3 were set to Hepatitis C virus infection, response to therapy of MIM# 609532
Review for gene: IFNL3 was set to GREEN
Added comment: https://www.pharmgkb.org/gene/PA134952671/overview

IFNL3 encodes IL28B, a class II cytokine receptor.

Suppiah et al., (2009) reported an association to sustained virological response (SVR) within the gene region encoding interleukin 28B. IL28B contributes to viral resistance and is known to be upregulated by interferons and by RNA virus infection. This data suggests that host genetics may be useful for the prediction of drug response, and they also support the investigation of the role of IL28B in the treatment of HCV and in other diseases treated with IFN-alpha. (PMID: 19749758)

The CC genotype of rs12979860 was associated with an approximately 2-fold greater rate of SVR compared with the TT genotype (PMID: 19684573, 24752298).
Sources: Expert list
Early-onset Parkinson disease v0.243 PRKRA Kaitlyn Dianna Weldon reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 33502045; Phenotypes: dystonia 16 MONDO:0012789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.243 POLG Kaitlyn Dianna Weldon reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791, 15351195; Phenotypes: autosomal dominant progressive external ophthalmoplegia MONDO:0008003; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity v0.4 RYR1 Claire Fryer-Smith reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia MIM# 117000, Congenital myopathy 1B, autosomal recessive MIM# 255320, King-Denborough syndrome MIM# 619542, Malignant hyperthermia susceptibility MIM# 145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.243 PLA2G6 Kaitlyn Dianna Weldon reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301718; Phenotypes: autosomal recessive Parkinson disease 14 MONDO:0013060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.243 PANK2 Kaitlyn Dianna Weldon edited their review of gene: PANK2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.243 PARK7 Kaitlyn Dianna Weldon reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301402; Phenotypes: Parkinson disease MONDO:0005180, autosomal recessive early-onset Parkinson disease 7 MONDO:0011658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.243 PANK2 Kaitlyn Dianna Weldon reviewed gene: PANK2: Rating: ; Mode of pathogenicity: None; Publications: 23447832, 20301663; Phenotypes: pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: None
Transplant Co-Morbidity v0.4 CYP4F2 Claire Fryer-Smith gene: CYP4F2 was added
gene: CYP4F2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP4F2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP4F2 were set to 25370453; 20555338; 19207028; 18250228
Phenotypes for gene: CYP4F2 were set to Warfarin dosage sensitivity MIM# 122700
Review for gene: CYP4F2 was set to GREEN
Added comment: It is involved in guidelines for warfarin
https://www.pharmgkb.org/gene/PA27121/overview
Sources: Expert list
Mendeliome v1.1118 APOL1 Zornitza Stark Classified gene: APOL1 as Amber List (moderate evidence)
Mendeliome v1.1118 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1117 APOL1 Zornitza Stark edited their review of gene: APOL1: Added comment: Assigned Definitive gene-disease validity by the ClinGen Glomerulopathy GCEP - Classification - 09/28/2021
Increased risk of kidney and glomerular diseases in persons carrying two of the risk alleles in this gene: G1/G1, G2/G2 and compound heterozygous G1/G2.
PMID: 20647424 - first study to identify G1 & G2 alleles associated with risk of renal disease. Comparing participants with zero or 1 risk allele of APOL1 to participants with 2 risk alleles provided an odds ratio for FSGS of 10.5 (CI, 6.0-18.4). This analysis supported a completely recessive pattern of inheritance.
PMID: 25993319 - only G1 and G2 confer renal risk, and other common and rare APOL1 missense variants, including the archaic G3 haplotype, do not contribute to sporadic FSGS and HIVAN
rs73885319 (G1) OR 9.66, p=9.97E-25
rs60910145 (G1) OR 9.75, p=9.04E-24
rs71785313 (G2) OR 5.69, p=3.39E-06
2 APOL1 risk alleles OR 18.31, p=3.31E-58
PMID: 34350953 - recessive gain-of-function toxicity mouse model recapitulates human kidney disease
G1:
p.Ser342Gly, AFR/AA gnomAD v2.1 AF 0.2276 (5,671/24,920 alleles, 687 homozygotes)
p.Ile384Met, AFR/AA gnomAD v2.1 AF 0.2278 (5,487/24,082 alleles, 662 homozygotes)
G2:
p.Asn388_Tyr389del, AFR/AA gnomAD v2.1 AF 0.1402(3,402/24,268 alleles, 224 homozygotes

AMBER status due to these being susceptibility alleles, and evidence being limited to these specific variants.; Changed rating: AMBER
Early-onset Parkinson disease v0.243 MAPT Kaitlyn Dianna Weldon reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301678; Phenotypes: late-onset Parkinson disease MONDO:0008199; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.243 LYST Kaitlyn Dianna Weldon reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 23436631, 23521865, 20301751; Phenotypes: Chediak-Higashi syndrome MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.243 LRRK2 Kaitlyn Dianna Weldon reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301387; Phenotypes: autosomal dominant Parkinson disease 8 MONDO:0011764, obsolete hereditary late onset Parkinson disease MONDO:0018466, Parkinson disease MONDO:0005180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.243 FTL Kaitlyn Dianna Weldon edited their review of gene: FTL: Changed rating: GREEN
Early-onset Parkinson disease v0.243 FTL Kaitlyn Dianna Weldon reviewed gene: FTL: Rating: ; Mode of pathogenicity: None; Publications: 23447832, 20301320; Phenotypes: neuroferritinopathy MONDO:0011638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.243 FBXO7 Kaitlyn Dianna Weldon reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301402; Phenotypes: parkinsonian-pyramidal syndrome MONDO:0009830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.243 DNAJC6 Kaitlyn Dianna Weldon reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33983693; Phenotypes: juvenile onset Parkinson disease 19A MONDO:0014231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.243 OPA3 Kaitlyn Dianna Weldon reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Transplant Co-Morbidity v0.4 VKORC1 Claire Fryer-Smith reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14765194, 18315553, 14765194, 19940803; Phenotypes: Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473, Warfarin resistance MIM# 122700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Transplant Co-Morbidity v0.4 NUDT15 Claire Fryer-Smith gene: NUDT15 was added
gene: NUDT15 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: NUDT15 was set to Other
Publications for gene: NUDT15 were set to 26878724
Phenotypes for gene: NUDT15 were set to Thiopurines, poor metabolism of, 2 MIM# 616903
Review for gene: NUDT15 was set to GREEN
Added comment: It is involved in guidelines for thiopurines including mercaptopurine and azathioprine.

https://www.pharmgkb.org/gene/PA134963132

Pathogenic variants in NUDT15 result in poor metabolism of thiopurines that was significantly associated with thiopurine-induced leukopenia. The NUDT15 deficiency trait follows an additive genetic mode of inheritance, with the severity of the phenotype proportional to the cumulative number of risk alleles in NUDT15.

Mechanistically, NUDT15 inactivated thiopurine metabolites and decreased thiopurine cytotoxicity in vitro, and patients with defective NUDT15 alleles showed excessive levels of thiopurine active metabolites and toxicity. (PMID: 26878724).
Sources: Expert list
Early-onset Parkinson disease v0.243 DCTN1 Kaitlyn Dianna Weldon reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20945553; Phenotypes: Perry syndrome MONDO:0008201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.243 CSF1R Kaitlyn Dianna Weldon reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 25935893, 22934315; Phenotypes: obsolete hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia MONDO:0009096; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity v0.4 SLCO1B1 Claire Fryer-Smith gene: SLCO1B1 was added
gene: SLCO1B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: SLCO1B1 was set to Other
Publications for gene: SLCO1B1 were set to 19952871; 5152405; 35968761
Phenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic MIM# 237450
Review for gene: SLCO1B1 was set to GREEN
Added comment: It is involved in guidelines for statins including CPIC guidelines for atorvastatin, simvastatin, and rosuvastatin. It is also implicated in a range of pharmacogenomic responses: https://www.pharmgkb.org/gene/PA134865839

Rotor type hyperbilirubinemia (HBLRR) is caused by digenic inheritance of homozygous mutations in the SLCO1B1 (MIM# 604843) and SLCO1B3 (MIM# 605495) genes. Van de Steeg et al. (2012) (PMID: 22232210) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. SLCO1B1 single nucleotide polymorphisms and haplotypes have been implicated in altered pharmacokinetic handling and pharmacodynamic response

The solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encodes for a membrane-bound sodium-independent organic anion transporter protein (OATP1B1). OATP1B1 mediates active transport of many endogenous substrates, such as bile acids, xenobiotic compounds, and a wide panel of pharmaceutical compounds. (PMID: 19952871)

SLCO1B1 variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin (PMID: 5152405).

Allelic variants of SLCO1B1 and ABCB1 predict the lipid-lowering efficacy of atorvastatin (PMID:35968761).
Sources: Expert list
Early-onset Parkinson disease v0.243 C19orf12 Kaitlyn Dianna Weldon reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780, 23278385; Phenotypes: neurodegeneration with brain iron accumulation 4 MONDO:0013674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity v0.4 CYP2C9 Claire Fryer-Smith gene: CYP2C9 was added
gene: CYP2C9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP2C9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP2C9 were set to 12893985
Phenotypes for gene: CYP2C9 were set to Tolbutamide poor metabolizer, Warfarin sensitivity MIM# 122700
Review for gene: CYP2C9 was set to GREEN
Added comment: CYP2C9 is one of the major drug-metabolizing CYP450 isoforms. It is involved in guidelines for warfarin, phenytoin and NSAIDs (https://www.pharmgkb.org/gene/PA126).

CYP2C9 is the cytochrome P450 enzyme responsible for the metabolism of the isomer of warfarin (see 122700) that is principally responsible for the anticoagulant effect of the drug. Persons with the genotype of impaired metabolism require lower doses of warfarin to achieve an anticoagulant effect similar to that in patients with the normal genotype and are more likely to have an excessive anticoagulant response (PMID: 10073515).

Kirchheiner et al. (2003) (PMID: 12893985) studied the effects of CYP2C9 on celecoxib, a nonsteroidal antiinflammatory drug (NSAID) that is used to treat rheumatoid arthritis and osteoarthritis and exhibits antiinflammatory, analgesic, and antipyretic activity by selective inhibition of cyclooxygenase-2 (COX2; 600262). They found a more than 2-fold reduced oral clearance in homozygous carriers of CYP2C9*3; heterozygous carriers of 1 CYP2C9*3 allele were in between, whereas CYP2C9*2 had no significant influence on celecoxib pharmacokinetics.
Sources: Expert list
Early-onset Parkinson disease v0.243 ATP1A3 Kaitlyn Dianna Weldon reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17282997, 15260953, 17595045, 17516473, 22534615; Phenotypes: ATP1A3-associated neurological disorder MONDO:0700002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.243 ATP13A2 Kaitlyn Dianna Weldon reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25900096; Phenotypes: parkinsonism due to ATP13A2 deficiency MONDO:0017809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Transplant Co-Morbidity v0.4 CYP2C19 Claire Fryer-Smith gene: CYP2C19 was added
gene: CYP2C19 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP2C19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2C19 were set to 12464799
Phenotypes for gene: CYP2C19 were set to DRUG METABOLISM, POOR, CYP2C19-RELATED, MEPHENYTOIN, POOR METABOLISM OF, INCLUDED OMEPRAZOLE, POOR METABOLISM OF, INCLUDED PROGUANIL, POOR METABOLISM OF, INCLUDED CLOPIDOGREL, POOR METABOLISM OF, INCLUDED MIM#609535
Review for gene: CYP2C19 was set to GREEN
Added comment: Genetic polymorphism in the metabolism of the anticonvulsant drug mephenytoin exhibits marked racial heterogeneity. Patients carrying any 2 CYP2C19 loss-of-function alleles (*2, *3, *4, or *5), had a higher event rate than patients with none.

CYP2C19 is a clinically important enzyme (EC 1.14.13.80) that metabolizes a wide variety of drugs, including the anticonvulsant mephenytoin, anti-ulcer drugs such as omeprazole, certain antidepressants, and the antimalarial drug proguanil. Mutation in the CYP2C19 gene causes poor metabolism of these drugs (PMID: 12464799).

It is involved in guidelines for antidepressants, clopidogrel and voriconazole.
https://www.pharmgkb.org/gene/PA124
Sources: Expert list
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Classified gene: ATP13A2 as Green List (high evidence)
Genetic Epilepsy v0.1903 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1902 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 30868101; 21362476; 31588715; 22388936
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693
Review for gene: ATP13A2 was set to GREEN
Added comment: Progressive neurological disorder, seizures in some patients.
Sources: Expert Review
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Marked gene: ZNF335 as ready
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Classified gene: ZNF335 as Green List (high evidence)
Genetic Epilepsy v0.1901 ZNF335 Zornitza Stark Gene: znf335 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1900 ZNF335 Zornitza Stark gene: ZNF335 was added
gene: ZNF335 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 27540107; 29652087
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive (MIM#615095)
Review for gene: ZNF335 was set to GREEN
Added comment: At least 6 unrelated families reported in literature with different biallelic variants in ZNF335. Microcephaly is the primary feature, but also commonly in association with a variable epilepsy phenotype.

Stouffs et al. (PMID:29652087) report 2 unrelated cases: patient A, demonstrating refractory seizures leading to death at age 5 days, whereas patient B lacked any clinical seizures, but had frequent spasms that have yet to be recorded by EEG. The proband in Sato et al. (PMID:27540107) had rare focal seizures controlled by treatment. Although not noted by Yang et al. (PMID:231781260), affected individuals in that family had seizures described as paroxysmal myoclonic jerks (personal communication with Stouffs et al). The case by Rana et al. (PMID:31187448) presented multifocal drug-resistant epilepsy, and while details were limited in McSherry et al. (PMID:30500859), authors did also note seizures.
Sources: Expert Review
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Marked gene: USP18 as ready
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Genetic Epilepsy v0.1899 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1898 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Genetic Epilepsy. Sources: Expert Review
treatable tags were added to gene: USP18.
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 12833411; 27325888; 31940699
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM#617397
Review for gene: USP18 was set to GREEN
Added comment: - PMID: 27325888 (2016) - Three sibs from a consanguineous Turkish family with a homozygous variant (c.652C>T, p.Q218X) in USP18. Antenatal presentation in one sib led to termination of pregnancy at 22 wk of gestation, and in the remaining two children presentation was neonatal and resulted in death within 2 weeks of life. In the latter two individuals manifestations included severe intracerebral haemorrhages, liver dysfunction, ascites, and lactic acidosis. One sib additionally had severe thrombocytopenia with petechiae, while the other developed seizures.

Two German sibs, previously reported in PMID: 12833411 (2013), were found to be compound het for the same p.Q218X variant and a cryptic 3-prime deletion of the USP18 gene. They presented thrombocytopenia, petechiae, ascites, hepatomegaly, and systemic calcifications. Within the first days of life, they developed seizures and died from severe cerebral haemorrhage.

Haplotype analysis of the region containing the Q218X mutation suggested a common ancestor between the 2 families and a founder effect.

- PMID: 31940699 (2020) - One Saudi Arabian boy with a homozygous splice-site variant (c.1073+1G>A) in USP18, presented hydrocephalus with seizures, intraventricular haemorrhage, brain calcifications, necrotizing cellulitis, systemic inflammation, multiple organ failure, and respiratory failure. This was the only patient to survive beyond the perinatal period owing to supportive care and prompt treatment with ruxolitinib. At the time of publication, the child was 3-years-old and was in full remission of clinical manifestations while continuing to receive oral ruxolitinib. He continues to grow normally, however authors note delay in developmental milestones.
Sources: Expert Review
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Marked gene: TUBGCP2 as ready
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Classified gene: TUBGCP2 as Green List (high evidence)
Genetic Epilepsy v0.1897 TUBGCP2 Zornitza Stark Gene: tubgcp2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1896 TUBGCP2 Zornitza Stark gene: TUBGCP2 was added
gene: TUBGCP2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737
Review for gene: TUBGCP2 was set to GREEN
Added comment: PMID: 31630790 (2019) - Five patients from four families with biallelic variants in the TUBGCP2 gene. Affected individuals shared phenotypic features that included progressive microcephaly (4/4), developmental delay (5/5, mild-severe), generalised seizures (4/5, onset at 6yrs-9m, 5m, and 7m). All patients exhibited lissencephaly-spectrum phenotypes with varying degrees of cortical malformations on brain imaging including pachygyria and subcortical band heterotopia.

All variants segregated with disease in each family. Analysis of fibroblasts derived from one patient with a splice site variant revealed several abnormal transcripts, predicted to result in LoF. No further functional studies of other variants or patient cells were performed.
Sources: Expert Review
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Classified gene: RNF113A as Green List (high evidence)
Genetic Epilepsy v0.1895 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1894 RNF113A Zornitza Stark gene: RNF113A was added
gene: RNF113A was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to 25612912; 31880405; 31793730; 29133357; 30506991; 15256591; 24026126; 23555887
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, MIM#300953
Review for gene: RNF113A was set to GREEN
Added comment: Seizures reported in a proportion of affected individuals.
Sources: Expert Review
Genetic Epilepsy v0.1893 RARS Zornitza Stark Marked gene: RARS as ready
Genetic Epilepsy v0.1893 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1893 RARS Zornitza Stark Classified gene: RARS as Green List (high evidence)
Genetic Epilepsy v0.1893 RARS Zornitza Stark Gene: rars has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1892 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Genetic Epilepsy. Sources: Expert Review
new gene name tags were added to gene: RARS.
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 31814314
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 (# 616140)
Review for gene: RARS was set to GREEN
Added comment: PMID 31814314: Clinical presentation and severity can be highly variable. However, among the 15 patients of relevant age (5/20 deceased at an early age), ID was observed in 13 (in 6/13 mild-moderate, in 7/13 severe/profound). Epilepsy was reported in half (10/20) with seizures being refractory to treatment in most and the phenotype corresponding to an infantile epileptic encephalopathy. DD and seizures were the presenting feature in 7 and 5 patients respectively, while in other cases presenting features were less specific (eg. failure to thrive in 1/20, irritabilty in 2/20).
Sources: Expert Review
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Marked gene: PGM2L1 as ready
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Classified gene: PGM2L1 as Green List (high evidence)
Genetic Epilepsy v0.1891 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1890 PGM2L1 Zornitza Stark gene: PGM2L1 was added
gene: PGM2L1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder, MONDO:0700092, PGM2L1-related
Review for gene: PGM2L1 was set to GREEN
Added comment: PMID: 33979636:
- Bi-allelic PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.
- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect.
Sources: Expert Review
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Marked gene: MINPP1 as ready
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Classified gene: MINPP1 as Green List (high evidence)
Genetic Epilepsy v0.1889 MINPP1 Zornitza Stark Gene: minpp1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1888 MINPP1 Zornitza Stark gene: MINPP1 was added
gene: MINPP1 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, MIM# 619527
Review for gene: MINPP1 was set to GREEN
Added comment: 8 individuals from 6 unrelated families reported with bi-allelic LOF variants. All presented with almost complete absence of motor and cognitive development, progressive or congenital microcephaly, spastic tetraplegia or dystonia, and vision impairments. For most, the first symptoms included neonatal severe axial hypotonia and epilepsy that started during the first months or years of life. Prenatal symptoms of microcephaly associated with increased thalami echogenicity were detected in one, while the seven other individuals presented with progressive microcephaly. Some exhibited rapidly progressive phenotype and the affected children died in their infancy or middle-childhood. Strikingly, all the affected children had a unique brain MRI showing a mild to severe PCH, fluid-filled posterior fossa, with dilated lateral ventricles. In addition, severe atrophy at the level of the basal ganglia or thalami often associated with typical T2 hypersignal were identified in all the patients MRI.

Supportive functional data showing accumulation of highly phosphorylated inositols, mostly inositol hexakisphosphate (IP6), detected in HEK293 cells, fibroblasts, iPSCs and differentiating neurons lacking MINPP1. In mutant cells, higher IP6 level is expected to be associated with an increased chelation of intracellular cations, such as iron or calcium, resulting in decreased levels of available ions.
Sources: Expert Review
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Marked gene: GLRA2 as ready
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Classified gene: GLRA2 as Green List (high evidence)
Genetic Epilepsy v0.1887 GLRA2 Zornitza Stark Gene: glra2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1886 GLRA2 Zornitza Stark gene: GLRA2 was added
gene: GLRA2 was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLRA2 were set to 35294868
Phenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076
Review for gene: GLRA2 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. PMID: 35294868 reports eight GLRA2 variants in affected females (n=8) and males (n=5). The variants in the females were de novo and c.887C>T,
p.Thr296Met (NC_000023.10, chrX: g.14627284C>T) was present in six individuals (PMID: 35294868, table 2) and was found to have a gain-of-function effect, which is in contrast to c.754C>T, p.Arg252Cys and c.407A>G, p.Asn136Ser (PMID: 2637014). All of the 13 GLRA2 variant carriers in PMID: 35294868 had developmental delay/intellectual disability and epilepsy was evident in 7/13 of the cases (PMID: 35294868, table 2). Supportive functional studies were also presented.
Sources: Expert Review
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Marked gene: DTYMK as ready
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Gene: dtymk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Classified gene: DTYMK as Amber List (moderate evidence)
Genetic Epilepsy v0.1885 DTYMK Zornitza Stark Gene: dtymk has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1884 DTYMK Zornitza Stark gene: DTYMK was added
gene: DTYMK was added to Genetic Epilepsy. Sources: Expert Review
Mode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DTYMK were set to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)
Review for gene: DTYMK was set to AMBER
Added comment: Four individuals from three families reported. Two individuals had seizures (febrile seizures in one and myoclonic jerks in the other).
Sources: Expert Review
Genetic Epilepsy v0.1883 DDC Zornitza Stark Marked gene: DDC as ready
Genetic Epilepsy v0.1883 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1883 DDC Zornitza Stark Classified gene: DDC as Green List (high evidence)
Genetic Epilepsy v0.1883 DDC Zornitza Stark Gene: ddc has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1882 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643
Review for gene: DDC was set to GREEN
Added comment: Seizures are rare but oculogyric crises, a key feature of this disorder, can be mistaken for seizures. Included for completeness.
Sources: Expert list
Transplant Co-Morbidity v0.4 CFTR Claire Fryer-Smith gene: CFTR was added
gene: CFTR was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Congenital bilateral absence of vas deferens MIM#277180; Cystic fibrosis MIM#219700
Added comment: https://www.pharmgkb.org/vip/PA166169453/overview
Sources: Expert list
Transplant Co-Morbidity v0.4 CYP3A5 Claire Fryer-Smith gene: CYP3A5 was added
gene: CYP3A5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: CYP3A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CYP3A5 were set to Hypertension, salt-sensitive essential, susceptibility to MIM#145500
Review for gene: CYP3A5 was set to GREEN
Added comment: Involved in guidelines for tacrolimus.
CYP3A5 expression has extreme interpopulation variability.
Allelic variants at locus increases susceptibility to hypertension.

https://www.pharmgkb.org/gene/PA131/overview
Sources: Expert list
Transplant Co-Morbidity v0.4 TPMT Claire Fryer-Smith gene: TPMT was added
gene: TPMT was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: TPMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TPMT were set to Thiopurines, poor metabolism of, 1 MIM# 610460
Review for gene: TPMT was set to GREEN
Added comment: Alleles in TPMT are in guidelines for thiopurines including mercaptopurine and azathioprine.

https://www.pharmgkb.org/gene/PA356
Sources: Expert list
Transplant Co-Morbidity v0.4 UGT1A1 Claire Fryer-Smith gene: UGT1A1 was added
gene: UGT1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: UGT1A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Hyperbilirubinemia, familial transient neonatal MIM# 237900; Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785
Review for gene: UGT1A1 was set to GREEN
Added comment: Alleles in UGT1A1 are involved in guidelines for atazanavir and irinotecan.

https://www.pharmgkb.org/gene/PA420/overview
Sources: Expert list
Transplant Co-Morbidity v0.4 DPYD Claire Fryer-Smith changed review comment from: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.

https://www.pharmgkb.org/gene/PA145/overview
Sources: Expert list; to: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.

https://www.pharmgkb.org/gene/PA145/overview
Sources: Expert list
Transplant Co-Morbidity v0.4 DPYD Claire Fryer-Smith gene: DPYD was added
gene: DPYD was added to Transplant Co-Morbidity Superpanel. Sources: Expert list
Mode of inheritance for gene: DPYD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism
Review for gene: DPYD was set to GREEN
Added comment: Monoallelic loss of function variants in this gene are associated with an increased risk of toxicity in cancer patients receiving fluoropyrimidine chemotherapy. Biallelic variants result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria.

https://www.pharmgkb.org/gene/PA145/overview
Sources: Expert list
Autoinflammatory Disorders v1.12 PSMA5 Peter McNaughton gene: PSMA5 was added
gene: PSMA5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PSMA5 was set to Other
Publications for gene: PSMA5 were set to PMID: 37600812
Phenotypes for gene: PSMA5 were set to PRAAS/CANDLE
Review for gene: PSMA5 was set to RED
Added comment: Single patient with heterozygous PSMB8 variant and de-novo PSMA5 truncating variant (p.Arg168*) with clinical features of CANDLE. Patient also had splice site variant in PSMC5. In silico modelling showing interaction of PSMB8 and PSMA5. PSMA5/a5 is a constitutive component of the 20S core proteasome, ? digenic model of disease.
Sources: Literature
Autoinflammatory Disorders v1.12 PSMB10 Peter McNaughton reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37600812; Phenotypes: CANDLE/PRAAS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.295 MLH3 Bryony Thompson Tag cancer tag was added to gene: MLH3.
Incidentalome v0.295 MLH1 Bryony Thompson Marked gene: MLH1 as ready
Incidentalome v0.295 MLH1 Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence).
Incidentalome v0.295 MLH1 Bryony Thompson Mode of inheritance for gene: MLH1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Incidentalome v0.294 MLH1 Bryony Thompson Tag cancer tag was added to gene: MLH1.
Incidentalome v0.294 MLH1 Bryony Thompson Phenotypes for gene: MLH1 were changed from to mismatch repair cancer syndrome 1 MONDO:0010159
Incidentalome v0.293 MEN1 Bryony Thompson Marked gene: MEN1 as ready
Incidentalome v0.293 MEN1 Bryony Thompson Gene: men1 has been classified as Green List (High Evidence).
Incidentalome v0.293 MEN1 Bryony Thompson Phenotypes for gene: MEN1 were changed from to Multiple endocrine neoplasia 1, MIM# 131100
Incidentalome v0.292 MEN1 Bryony Thompson Mode of inheritance for gene: MEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.291 MEN1 Bryony Thompson Tag cancer tag was added to gene: MEN1.
Incidentalome v0.291 MBD4 Bryony Thompson Tag cancer tag was added to gene: MBD4.
Incidentalome v0.291 MAPT Bryony Thompson Marked gene: MAPT as ready
Incidentalome v0.291 MAPT Bryony Thompson Gene: mapt has been classified as Green List (High Evidence).
Incidentalome v0.291 MAPT Bryony Thompson Phenotypes for gene: MAPT were changed from to Supranuclear palsy, progressive (MIM# 601104) AD; Supranuclear palsy, progressive atypical (MIM# 260540) AR
Incidentalome v0.290 MAPT Bryony Thompson Publications for gene: MAPT were set to
Incidentalome v0.289 MAPT Bryony Thompson Mode of inheritance for gene: MAPT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.288 MAPT Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: MAPT.
Incidentalome v0.288 LRRK2 Bryony Thompson Marked gene: LRRK2 as ready
Incidentalome v0.288 LRRK2 Bryony Thompson Gene: lrrk2 has been classified as Green List (High Evidence).
Incidentalome v0.288 LRRK2 Bryony Thompson Phenotypes for gene: LRRK2 were changed from to Parkinson Disease type 8 (MONDO:0005180, MIM#607060)
Incidentalome v0.287 LRRK2 Bryony Thompson Mode of pathogenicity for gene: LRRK2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Incidentalome v0.286 LRRK2 Bryony Thompson Publications for gene: LRRK2 were set to
Incidentalome v0.285 LRRK2 Bryony Thompson Mode of inheritance for gene: LRRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.284 LRRK2 Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: LRRK2.
Incidentalome v0.284 LDLR Bryony Thompson Publications for gene: LDLR were set to
Incidentalome v0.283 LDLR Bryony Thompson Marked gene: LDLR as ready
Incidentalome v0.283 LDLR Bryony Thompson Gene: ldlr has been classified as Green List (High Evidence).
Incidentalome v0.283 LDLR Bryony Thompson Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1, MIM# 143890
Incidentalome v0.282 LDLR Bryony Thompson Tag cardiac tag was added to gene: LDLR.
Incidentalome v0.282 LDLR Bryony Thompson Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.281 ITM2B Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: ITM2B.
Incidentalome v0.281 ITM2B Bryony Thompson Marked gene: ITM2B as ready
Incidentalome v0.281 ITM2B Bryony Thompson Gene: itm2b has been classified as Green List (High Evidence).
Incidentalome v0.281 ITM2B Bryony Thompson Publications for gene: ITM2B were set to
Incidentalome v0.280 ITM2B Bryony Thompson Mode of pathogenicity for gene: ITM2B was changed from None to Other
Incidentalome v0.279 GRN Bryony Thompson Marked gene: GRN as ready
Incidentalome v0.279 GRN Bryony Thompson Gene: grn has been classified as Green List (High Evidence).
Incidentalome v0.279 GRN Bryony Thompson Phenotypes for gene: GRN were changed from to frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923
Incidentalome v0.278 GRN Bryony Thompson Publications for gene: GRN were set to
Incidentalome v0.277 GRN Bryony Thompson Mode of inheritance for gene: GRN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.276 GRN Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: GRN.
Incidentalome v0.276 GBA Bryony Thompson Marked gene: GBA as ready
Incidentalome v0.276 GBA Bryony Thompson Gene: gba has been classified as Green List (High Evidence).
Incidentalome v0.276 GBA Bryony Thompson Publications for gene: GBA were set to
Incidentalome v0.275 GBA Bryony Thompson Phenotypes for gene: GBA were changed from to Parkinson's disease, MONDO:0005180, GBA-related
Incidentalome v0.274 GBA Bryony Thompson Mode of inheritance for gene: GBA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.273 GBA Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: GBA.
Incidentalome v0.273 FUS Bryony Thompson Marked gene: FUS as ready
Incidentalome v0.273 FUS Bryony Thompson Gene: fus has been classified as Green List (High Evidence).
Incidentalome v0.273 FUS Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: FUS.
Incidentalome v0.273 FUS Bryony Thompson Phenotypes for gene: FUS were changed from to Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030
Incidentalome v0.272 FUS Bryony Thompson Publications for gene: FUS were set to
Deafness_IsolatedAndComplex v1.160 GJB6 Zornitza Stark Mode of inheritance for gene: GJB6 was changed from Unknown to Other
Deafness_IsolatedAndComplex v1.159 GJB6 Zornitza Stark edited their review of gene: GJB6: Changed mode of inheritance: Other
Deafness_IsolatedAndComplex v1.159 GJB6 Zornitza Stark Classified gene: GJB6 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.159 GJB6 Zornitza Stark Gene: gjb6 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.158 GJB6 Zornitza Stark Tag SV/CNV tag was added to gene: GJB6.
Deafness_IsolatedAndComplex v1.158 GJB6 Zornitza Stark changed review comment from: Association with deafness classified as REFUTED by ClinGen.; to: Association os SNVs in this gene with isolated deafness classified as REFUTED by ClinGen.

The GJB6-D13S1830 deletion is a relatively common disease allele in many populations and is classified as pathogenic for hearing loss, frequently identified in homozygosity or in trans with a pathogenic GJB2 variant. This is a deletion of approximately 309kb of DNA including the 5' end of GJB6 and a region upstream of both GJB6 and the GJB2 gene. It has been proposed that GJB6 and GJB2 are co-regulated by a cis-acting element (Ahmad 2007 PMID 17227867).

GREEN rating on the panel relates to the DELETION ONLY.
Incidentalome v0.271 FUS Bryony Thompson Mode of inheritance for gene: FUS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.270 FTL Bryony Thompson Marked gene: FTL as ready
Incidentalome v0.270 FTL Bryony Thompson Gene: ftl has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.158 GJB6 Zornitza Stark edited their review of gene: GJB6: Changed rating: GREEN
Incidentalome v0.270 FTL Bryony Thompson Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM# 606159
Incidentalome v0.269 FTL Bryony Thompson Publications for gene: FTL were set to
Motor Neurone Disease v1.4 CHMP2B Bryony Thompson Marked gene: CHMP2B as ready
Motor Neurone Disease v1.4 CHMP2B Bryony Thompson Gene: chmp2b has been classified as Green List (High Evidence).
Incidentalome v0.268 FTL Bryony Thompson Mode of inheritance for gene: FTL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.267 FTL Bryony Thompson Tag neurological tag was added to gene: FTL.
Incidentalome v0.267 FIG4 Bryony Thompson Tag review tag was added to gene: FIG4.
Motor Neurone Disease v1.4 CHMP2B Bryony Thompson Phenotypes for gene: CHMP2B were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936)
Motor Neurone Disease v1.3 CHMP2B Bryony Thompson Publications for gene: CHMP2B were set to
Incidentalome v0.267 DICER1 Bryony Thompson Tag cancer tag was added to gene: DICER1.
Motor Neurone Disease v1.2 CHMP2B Bryony Thompson Mode of pathogenicity for gene: CHMP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Incidentalome v0.267 DDX41 Bryony Thompson Tag cancer tag was added to gene: DDX41.
Motor Neurone Disease v1.1 CHMP2B Bryony Thompson Mode of inheritance for gene: CHMP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.267 CLU Bryony Thompson Marked gene: CLU as ready
Incidentalome v0.267 CLU Bryony Thompson Gene: clu has been classified as Red List (Low Evidence).
Incidentalome v0.267 CLU Bryony Thompson Phenotypes for gene: CLU were changed from to Alzheimer's Disease (MIM#104300)
Early-onset Dementia v1.5 CHMP2B Bryony Thompson Marked gene: CHMP2B as ready
Early-onset Dementia v1.5 CHMP2B Bryony Thompson Gene: chmp2b has been classified as Green List (High Evidence).
Incidentalome v0.266 CLU Bryony Thompson Classified gene: CLU as Red List (low evidence)
Incidentalome v0.266 CLU Bryony Thompson Gene: clu has been classified as Red List (Low Evidence).
Early-onset Dementia v1.5 CHMP2B Bryony Thompson Phenotypes for gene: CHMP2B were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795; MONDO:0010936)
Early-onset Dementia v1.4 CHMP2B Bryony Thompson Publications for gene: CHMP2B were set to
Incidentalome v0.265 CHMP2B Bryony Thompson Marked gene: CHMP2B as ready
Incidentalome v0.265 CHMP2B Bryony Thompson Gene: chmp2b has been classified as Green List (High Evidence).
Early-onset Dementia v1.3 CHMP2B Bryony Thompson Mode of pathogenicity for gene: CHMP2B was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Incidentalome v0.265 CHMP2B Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: CHMP2B.
Incidentalome v0.265 CHMP2B Bryony Thompson Phenotypes for gene: CHMP2B were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795; MONDO:0010936)
Early-onset Dementia v1.2 CHMP2B Bryony Thompson Mode of pathogenicity for gene: CHMP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Incidentalome v0.264 CHMP2B Bryony Thompson Publications for gene: CHMP2B were set to
Incidentalome v0.263 CHMP2B Bryony Thompson Mode of pathogenicity for gene: CHMP2B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early-onset Dementia v1.1 CHMP2B Bryony Thompson Mode of inheritance for gene: CHMP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.262 CHMP2B Bryony Thompson Mode of inheritance for gene: CHMP2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.262 CHMP2B Bryony Thompson Mode of inheritance for gene: CHMP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v1.1 CHMP2B Bryony Thompson Mode of inheritance for gene: CHMP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.261 CHEK2 Bryony Thompson Tag cancer tag was added to gene: CHEK2.
Incidentalome v0.261 CHCHD2 Bryony Thompson Marked gene: CHCHD2 as ready
Incidentalome v0.261 CHCHD2 Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence).
Incidentalome v0.261 CHCHD2 Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: CHCHD2.
Incidentalome v0.261 CDH1 Bryony Thompson Tag cancer tag was added to gene: CDH1.
Incidentalome v0.261 CCNF Bryony Thompson Classified gene: CCNF as Amber List (moderate evidence)
Incidentalome v0.261 CCNF Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022
Incidentalome v0.261 CCNF Bryony Thompson Gene: ccnf has been classified as Amber List (Moderate Evidence).
Incidentalome v0.260 CCNF Bryony Thompson Classified gene: CCNF as Amber List (moderate evidence)
Incidentalome v0.260 CCNF Bryony Thompson Gene: ccnf has been classified as Amber List (Moderate Evidence).
Incidentalome v0.259 CACNA1C Bryony Thompson Tag cardiac tag was added to gene: CACNA1C.
Incidentalome v0.259 CALHM1 Bryony Thompson Marked gene: CALHM1 as ready
Incidentalome v0.259 CALHM1 Bryony Thompson Gene: calhm1 has been classified as Red List (Low Evidence).
Incidentalome v0.259 CALHM1 Bryony Thompson Classified gene: CALHM1 as Red List (low evidence)
Incidentalome v0.259 CALHM1 Bryony Thompson Gene: calhm1 has been classified as Red List (Low Evidence).
Incidentalome v0.258 CACNA1S Bryony Thompson Tag review tag was added to gene: CACNA1S.
Incidentalome v0.258 BRCA2 Bryony Thompson Marked gene: BRCA2 as ready
Incidentalome v0.258 BRCA2 Bryony Thompson Gene: brca2 has been classified as Green List (High Evidence).
Incidentalome v0.258 BRCA2 Bryony Thompson Tag cancer tag was added to gene: BRCA2.
Incidentalome v0.258 BRCA2 Bryony Thompson Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555
Incidentalome v0.257 BRCA2 Bryony Thompson Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.256 BRCA1 Bryony Thompson Marked gene: BRCA1 as ready
Incidentalome v0.256 BRCA1 Bryony Thompson Gene: brca1 has been classified as Green List (High Evidence).
Incidentalome v0.256 BRCA1 Bryony Thompson Phenotypes for gene: BRCA1 were changed from to Breast-ovarian cancer, familial, 1, MIM# 604370
Incidentalome v0.255 BRCA1 Bryony Thompson Mode of inheritance for gene: BRCA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.254 BAP1 Bryony Thompson Tag cancer tag was added to gene: BAP1.
Mendeliome v1.1117 GOSR2 Achchuthan Shanmugasundram changed review comment from: Four children from two sibships from an extended consanguineous Palestinian family were reported with congenital profound hearing loss, whereas the parents of both sibships are first cousins with normal hearing. The families reported occasional febrile seizures in infancy for each of the deaf children, but these did not persist into adolescence. These affected children were identified with autosomal recessive GOSR2 variant, c.1A > C, p.Met1Leu. This variant appeared once in the gnomAD database, as a heterozygote, and not in any of ~2000 in-house controls of Palestinian ancestry.

All previously reported cases with biallelic GOSR2 variants had normal hearing and hence the differences in translation efficiency due to the effect of this variant may be responsible for this hearing loss phenotype (PMID:37074134).; to: This gene should be added in 'Deafness_IsolatedAndComplex' panel with red rating.

Four children from two sibships from an extended consanguineous Palestinian family were reported with congenital profound hearing loss, whereas the parents of both sibships are first cousins with normal hearing. The families reported occasional febrile seizures in infancy for each of the deaf children, but these did not persist into adolescence. These affected children were identified with autosomal recessive GOSR2 variant, c.1A > C, p.Met1Leu. This variant appeared once in the gnomAD database, as a heterozygote, and not in any of ~2000 in-house controls of Palestinian ancestry.

All previously reported cases with biallelic GOSR2 variants had normal hearing and hence the differences in translation efficiency due to the effect of this variant may be responsible for this hearing loss phenotype (PMID:37074134).
Mendeliome v1.1117 GOSR2 Achchuthan Shanmugasundram reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: 37074134; Phenotypes: hearing loss, autosomal recessive, MONDO:0019588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.1 UMPS Zornitza Stark Tag for review was removed from gene: UMPS.
Genomic newborn screening: BabyScreen+ v1.1 SMN1 Zornitza Stark Tag for review was removed from gene: SMN1.
Genomic newborn screening: BabyScreen+ v1.1 OAT Zornitza Stark Tag for review was removed from gene: OAT.
Genomic newborn screening: BabyScreen+ v1.1 MLH1 Zornitza Stark Tag for review was removed from gene: MLH1.
Genomic newborn screening: BabyScreen+ v1.1 KCNJ2 Zornitza Stark Tag for review was removed from gene: KCNJ2.
Tag treatable tag was added to gene: KCNJ2.
Genomic newborn screening: BabyScreen+ v1.1 HIBCH Zornitza Stark Tag for review was removed from gene: HIBCH.
Genomic newborn screening: BabyScreen+ v1.1 NIPAL4 Zornitza Stark Tag for review was removed from gene: NIPAL4.
Tag treatable tag was added to gene: NIPAL4.
Tag dermatological tag was added to gene: NIPAL4.
Genomic newborn screening: BabyScreen+ v1.1 SAMD9 Zornitza Stark Tag treatable tag was added to gene: SAMD9.
Tag endocrine tag was added to gene: SAMD9.
Tag haematological tag was added to gene: SAMD9.
Genomic newborn screening: BabyScreen+ v1.1 PDP1 Zornitza Stark Tag treatable tag was added to gene: PDP1.
Tag metabolic tag was added to gene: PDP1.
Phagocyte Defects v1.16 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Mendeliome v1.1117 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Bone Marrow Failure v1.46 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Genomic newborn screening: BabyScreen+ v1.1 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Tag immunological tag was added to gene: GFI1.
Genomic newborn screening: BabyScreen+ v1.1 DLAT Zornitza Stark Tag treatable tag was added to gene: DLAT.
Tag metabolic tag was added to gene: DLAT.
Severe Combined Immunodeficiency v1.3 CORO1A Zornitza Stark Tag treatable tag was added to gene: CORO1A.
Mendeliome v1.1117 CORO1A Zornitza Stark Tag treatable tag was added to gene: CORO1A.
Genomic newborn screening: BabyScreen+ v1.1 CORO1A Zornitza Stark Tag treatable tag was added to gene: CORO1A.
Tag immunological tag was added to gene: CORO1A.
Susceptibility to Viral Infections v0.113 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Disorders of immune dysregulation v0.178 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Mendeliome v1.1117 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Genomic newborn screening: BabyScreen+ v1.1 CD70 Zornitza Stark Tag treatable tag was added to gene: CD70.
Tag immunological tag was added to gene: CD70.
Combined Immunodeficiency v1.43 CD40 Zornitza Stark Tag treatable tag was added to gene: CD40.
Mendeliome v1.1117 CD40 Zornitza Stark Tag treatable tag was added to gene: CD40.
Genomic newborn screening: BabyScreen+ v1.1 CD40 Zornitza Stark Tag treatable tag was added to gene: CD40.
Tag immunological tag was added to gene: CD40.
Genomic newborn screening: BabyScreen+ v1.1 BMP1 Zornitza Stark Tag skeletal tag was added to gene: BMP1.
Incidentalome v0.254 ATP7B Bryony Thompson Publications for gene: ATP7B were set to
Incidentalome v0.253 ATP7B Bryony Thompson Tag treatable tag was added to gene: ATP7B.
Incidentalome v0.253 ATP7B Bryony Thompson Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.252 ATP7B Bryony Thompson Phenotypes for gene: ATP7B were changed from to Wilson Disease (MONDO:0010200; MIM #277900)
Incidentalome v0.251 ATP13A2 Bryony Thompson Marked gene: ATP13A2 as ready
Incidentalome v0.251 ATP13A2 Bryony Thompson Gene: atp13a2 has been classified as Green List (High Evidence).
Incidentalome v0.251 ATP13A2 Bryony Thompson Phenotypes for gene: ATP13A2 were changed from to Kufor-Rakeb syndrome, MIM# 606693
Incidentalome v0.250 ATP13A2 Bryony Thompson Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.249 ATP13A2 Bryony Thompson Tag neurological tag was added to gene: ATP13A2.
Incidentalome v0.249 APP Bryony Thompson Marked gene: APP as ready
Incidentalome v0.249 APP Bryony Thompson Gene: app has been classified as Green List (High Evidence).
Incidentalome v0.249 APP Bryony Thompson Phenotypes for gene: APP were changed from to Alzheimer's Disease (MIM#104300)
Incidentalome v0.248 APP Bryony Thompson Publications for gene: APP were set to
Incidentalome v0.247 APP Bryony Thompson Mode of pathogenicity for gene: APP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Incidentalome v0.246 APP Bryony Thompson Mode of inheritance for gene: APP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.245 APP Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: APP.
Incidentalome v0.245 APOE Bryony Thompson Phenotypes for gene: APOE were changed from Alzheimer disease 2, MIM# 104310 to Alzheimer disease 2, MIM# 104310; Hyperlipoproteinemia, type III (MIM#617347); Sea-blue histiocyte disease (MIM#269600)
Incidentalome v0.244 APOE Bryony Thompson Tag adult onset neurodegenerative tag was added to gene: APOE.
Incidentalome v0.243 APOE Bryony Thompson Phenotypes for gene: APOE were changed from to Alzheimer disease 2, MIM# 104310
Incidentalome v0.242 APOB Bryony Thompson Marked gene: APOB as ready
Incidentalome v0.242 APOB Bryony Thompson Gene: apob has been classified as Green List (High Evidence).
Incidentalome v0.242 APOB Bryony Thompson Mode of inheritance for gene: APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.241 APOB Bryony Thompson Phenotypes for gene: APOB were changed from to Hypercholesterolemia, familial, 2, MIM# 144010
Incidentalome v0.240 APOB Bryony Thompson Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.239 APOB Bryony Thompson Tag treatable tag was added to gene: APOB.
Incidentalome v0.238 ANG Bryony Thompson Marked gene: ANG as ready
Incidentalome v0.238 ANG Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence).
Incidentalome v0.238 ANG Bryony Thompson Phenotypes for gene: ANG were changed from to Amyotrophic Lateral Sclerosis (MONDO: 0012753; MIM#611895)
Incidentalome v0.237 ANG Bryony Thompson Publications for gene: ANG were set to
Incidentalome v0.236 ANG Bryony Thompson Tag neurological tag was added to gene: ANG.
Incidentalome v0.236 ANG Bryony Thompson Mode of inheritance for gene: ANG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.235 ANG Bryony Thompson Mode of inheritance for gene: ANG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Incidentalome v0.235 ANG Bryony Thompson Classified gene: ANG as Amber List (moderate evidence)
Incidentalome v0.235 ANG Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v1.0 Bryony Thompson promoted panel to version 1.0
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson changed review comment from: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes; to: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, which includes ALS in the spectrum of phenotypes
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Classified gene: HNRNPA2B1 as Amber List (moderate evidence)
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Added comment: Comment on list classification: Assigned amber because HNRNPA2B1 is a multisystem proteinopathy gene, with includes ALS in the spectrum of phenotypes
Motor Neurone Disease v0.194 HNRNPA2B1 Bryony Thompson Gene: hnrnpa2b1 has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.193 EWSR1 Bryony Thompson Marked gene: EWSR1 as ready
Motor Neurone Disease v0.193 EWSR1 Bryony Thompson Gene: ewsr1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.193 ERLIN1 Bryony Thompson Marked gene: ERLIN1 as ready
Motor Neurone Disease v0.193 ERLIN1 Bryony Thompson Gene: erlin1 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.193 DAO Bryony Thompson Marked gene: DAO as ready
Motor Neurone Disease v0.193 DAO Bryony Thompson Gene: dao has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.193 CCNF Bryony Thompson edited their review of gene: CCNF: Changed rating: AMBER
Early-onset Dementia v1.0 Bryony Thompson promoted panel to version 1.0
Early-onset Dementia v0.221 NR4A2 Bryony Thompson Marked gene: NR4A2 as ready
Early-onset Dementia v0.221 NR4A2 Bryony Thompson Gene: nr4a2 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.221 HTRA2 Bryony Thompson Marked gene: HTRA2 as ready
Early-onset Dementia v0.221 HTRA2 Bryony Thompson Gene: htra2 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.221 TIA1 Bryony Thompson Marked gene: TIA1 as ready
Early-onset Dementia v0.221 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.221 TIA1 Bryony Thompson Classified gene: TIA1 as Amber List (moderate evidence)
Early-onset Dementia v0.221 TIA1 Bryony Thompson Gene: tia1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.220 TIA1 Bryony Thompson gene: TIA1 was added
gene: TIA1 was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: TIA1 was set to Other
Publications for gene: TIA1 were set to 36861178; 29599744; 29457785
Phenotypes for gene: TIA1 were set to Multisystem proteinopathy
Review for gene: TIA1 was set to AMBER
Added comment: Digenic variants in SQSTM1 and TIA1 have been reported in multisystem proteinopathy which includes clinical combinations of inclusion body myopathy (IBM), neurodegeneration [motor neuron disorder (MND)/frontotemporal dementia (FTD)], and Paget disease of bone (PDB). FTD has reported in at least one individual with FTD as a feature of the phenotype.
Sources: Literature
Early-onset Dementia v0.219 HNRNPA1 Bryony Thompson Classified gene: HNRNPA1 as Amber List (moderate evidence)
Early-onset Dementia v0.219 HNRNPA1 Bryony Thompson Added comment: Comment on list classification: Included as an amber gene because the gene is associated with multisystem proteinopathy, which FTD can be a feature. No FTD has been reported in association with this gene.
Early-onset Dementia v0.219 HNRNPA1 Bryony Thompson Gene: hnrnpa1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.218 GCH1 Bryony Thompson Marked gene: GCH1 as ready
Early-onset Dementia v0.218 GCH1 Bryony Thompson Gene: gch1 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.218 FIG4 Bryony Thompson Marked gene: FIG4 as ready
Early-onset Dementia v0.218 FIG4 Bryony Thompson Gene: fig4 has been classified as Red List (Low Evidence).
Motor Neurone Disease v0.193 ANG Bryony Thompson Classified gene: ANG as Amber List (moderate evidence)
Motor Neurone Disease v0.193 ANG Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.218 ANG Bryony Thompson Marked gene: ANG as ready
Early-onset Dementia v0.218 ANG Bryony Thompson Gene: ang has been classified as Red List (Low Evidence).
Early-onset Dementia v0.218 ALS2 Bryony Thompson Marked gene: ALS2 as ready
Early-onset Dementia v0.218 ALS2 Bryony Thompson Gene: als2 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.218 SCA17 Bryony Thompson Classified STR: SCA17 as Green List (high evidence)
Early-onset Dementia v0.218 SCA17 Bryony Thompson Str: sca17 has been classified as Green List (High Evidence).
Early-onset Dementia v0.217 SCA17 Bryony Thompson Marked STR: SCA17 as ready
Early-onset Dementia v0.217 SCA17 Bryony Thompson Str: sca17 has been classified as Red List (Low Evidence).
Early-onset Dementia v0.217 SCA17 Bryony Thompson STR: SCA17 was added
STR: SCA17 was added to Early-onset Dementia. Sources: Expert list
Mode of inheritance for STR: SCA17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA17 were set to 10484774; 20301611
Phenotypes for STR: SCA17 were set to Spinocerebellar ataxia 17 MIM#607136
Review for STR: SCA17 was set to GREEN
STR: SCA17 was marked as clinically relevant
Added comment: NM_003194.4:c.172_174[X]
Mechanism of disease expected to be gain of function
Normal: ≤ 40 CAG/CAA repeats
Reduced-penetrance: 41-48 CAG/CAA repeats, individual may or may not develop symptoms.
Full-penetrance: ≥49 CAG/CAA repeats
Dementia is a feature of the condition
Sources: Expert list
Early-onset Dementia v0.216 XK Sangavi Sivagnanasundram Deleted their comment
Early-onset Dementia v0.216 XK Sangavi Sivagnanasundram edited their review of gene: XK: Added comment: McLeod Syndrome (MLS) is multisystem disorder with central nervous system (CNS), neuromuscular, cardiovascular, and hematologic manifestations in males.

Dementia is not a typical feature of MLS but cognitive impairment has been identified in multiple individuals with MLS.

PMID: 12899725
Reported in one individual with McLeod Syndrome (MLS) who developed mild dementia during disease progression (age of onset was later in life). Testing confirmed he has a complete deletion of exon 2.

PMID: 11761473
Approx 15 individuals identified with neurological impact to the central nervous system resulting in cognitive impairment.; Changed rating: GREEN; Changed publications: 12899725, 11761473
Early-onset Dementia v0.216 CCNF Bryony Thompson edited their review of gene: CCNF: Changed rating: AMBER
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Classified gene: RAB3GAP2 as Green List (high evidence)
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Gene: rab3gap2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Marked gene: RAB3GAP2 as ready
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Gene: rab3gap2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Mode of inheritance for gene: RAB3GAP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.248 RAB3GAP2 Ain Roesley Publications for gene: RAB3GAP2 were set to 23420520; 20967465
Skeletal dysplasia v0.247 RAB3GAP2 Ain Roesley Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome 2, MIM# 614225 to Martsolf syndrome 1 MIM#212720
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome to Warburg micro syndrome 2, MIM# 614225
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Publications for gene: RAB3GAP2 were set to
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Mode of inheritance for gene: RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Classified gene: RAB3GAP2 as Green List (high evidence)
Skeletal dysplasia v0.246 RAB3GAP2 Ain Roesley Gene: rab3gap2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.245 PHF6 Ain Roesley Marked gene: PHF6 as ready
Skeletal dysplasia v0.245 PHF6 Ain Roesley Gene: phf6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.245 PHF6 Ain Roesley Phenotypes for gene: PHF6 were changed from Coffin-Siris syndrome to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Skeletal dysplasia v0.245 PHF6 Ain Roesley Publications for gene: PHF6 were set to
Skeletal dysplasia v0.244 PHF6 Ain Roesley Mode of inheritance for gene: PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v0.244 PHF6 Ain Roesley Classified gene: PHF6 as Green List (high evidence)
Skeletal dysplasia v0.244 PHF6 Ain Roesley Gene: phf6 has been classified as Green List (High Evidence).
Mendeliome v1.1117 DDRGK1 Ain Roesley Marked gene: DDRGK1 as ready
Mendeliome v1.1117 DDRGK1 Ain Roesley Gene: ddrgk1 has been classified as Green List (High Evidence).
Mendeliome v1.1117 DDRGK1 Ain Roesley Classified gene: DDRGK1 as Green List (high evidence)
Mendeliome v1.1117 DDRGK1 Ain Roesley Gene: ddrgk1 has been classified as Green List (High Evidence).
Mendeliome v1.1116 DDRGK1 Ain Roesley gene: DDRGK1 was added
gene: DDRGK1 was added to Mendeliome. Sources: Literature
founder tags were added to gene: DDRGK1.
Mode of inheritance for gene: DDRGK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDRGK1 were set to 28263186; 35377455; 35670300; 36243336
Phenotypes for gene: DDRGK1 were set to Spondyloepimetaphyseal dysplasia, Shohat type (MIM#602557)
Review for gene: DDRGK1 was set to GREEN
gene: DDRGK1 was marked as current diagnostic
Added comment: RNA and protein studies performed for the splice variant. These two variants likely represents founder variants

PMID:28263186 reported six individuals from three different families of Iraqi Jewish descent (three patients from family 1 and one individual each from families 2-4) identified with homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK1 and presented with Shohat-type spondyloepimetaphyseal dysplasia (SEMD). It is a skeletal dysplasia that affects cartilage development.

PMID: 35670300 reported two unrelated cases of Moroccan descent identified with homozygous missense variant c.406G>A and presented with SEMD. PMID:36243336 reported an Omani female patient identified with the same homozygous variant as the Iraqi cases and was reported with SEMD.

In addition, studies on both zebrafish and mouse models confirms the physiological role of DDRGK1 in the development and maintenance of the growth plate cartilage and deficiency of DDRGK1 recapitulate the clinical phenotype of short stature and joint abnormalities observed in patients with Shohat type SEMD (PMID:28263186; PMID:35377455).
Sources: Literature
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Marked gene: DDRGK1 as ready
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Added comment: Comment when marking as ready: RNA and protein studies performed for the splice variant. These two variants likely represents founder variants
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Gene: ddrgk1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Tag founder tag was added to gene: DDRGK1.
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Classified gene: DDRGK1 as Green List (high evidence)
Skeletal dysplasia v0.243 DDRGK1 Ain Roesley Gene: ddrgk1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.216 NHLRC1 Zornitza Stark Marked gene: NHLRC1 as ready
Early-onset Dementia v0.216 NHLRC1 Zornitza Stark Gene: nhlrc1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.216 NHLRC1 Zornitza Stark Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780
Early-onset Dementia v0.215 NHLRC1 Zornitza Stark Publications for gene: NHLRC1 were set to
Early-onset Dementia v0.214 NHLRC1 Zornitza Stark Mode of inheritance for gene: NHLRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.213 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Early-onset Dementia v0.213 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.213 NPC2 Zornitza Stark Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2 MIM#607625
Early-onset Dementia v0.212 NPC2 Zornitza Stark Publications for gene: NPC2 were set to
Early-onset Dementia v0.211 NPC2 Zornitza Stark Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.210 OPTN Zornitza Stark Marked gene: OPTN as ready
Early-onset Dementia v0.210 OPTN Zornitza Stark Gene: optn has been classified as Green List (High Evidence).
Early-onset Dementia v0.210 OPTN Zornitza Stark Phenotypes for gene: OPTN were changed from to Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435)
Early-onset Dementia v0.209 OPTN Zornitza Stark Publications for gene: OPTN were set to
Early-onset Dementia v0.208 OPTN Zornitza Stark Mode of inheritance for gene: OPTN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.207 PANK2 Zornitza Stark Marked gene: PANK2 as ready
Early-onset Dementia v0.207 PANK2 Zornitza Stark Gene: pank2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.207 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from to Neurodegeneration with brain iron accumulation 1 (MIM#234200)
Early-onset Dementia v0.206 PANK2 Zornitza Stark Publications for gene: PANK2 were set to
Early-onset Dementia v0.205 PANK2 Zornitza Stark Mode of inheritance for gene: PANK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.204 PRNP Zornitza Stark Marked gene: PRNP as ready
Early-onset Dementia v0.204 PRNP Zornitza Stark Gene: prnp has been classified as Green List (High Evidence).
Early-onset Dementia v0.204 PRNP Zornitza Stark Phenotypes for gene: PRNP were changed from to Prion Disease (MIM#176640); Creutzfeldt-Jakob disease (MIM#123400)
Early-onset Dementia v0.203 PRNP Zornitza Stark Publications for gene: PRNP were set to
Early-onset Dementia v0.202 PRNP Zornitza Stark Mode of inheritance for gene: PRNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.201 PSEN1 Zornitza Stark Marked gene: PSEN1 as ready
Early-onset Dementia v0.201 PSEN1 Zornitza Stark Gene: psen1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.201 PSEN1 Zornitza Stark Phenotypes for gene: PSEN1 were changed from to Alzheimer disease, type 3 (MIM#607822; MONDO:0011913)
Early-onset Dementia v0.200 PSEN1 Zornitza Stark Publications for gene: PSEN1 were set to
Early-onset Dementia v0.199 PSEN1 Zornitza Stark Mode of inheritance for gene: PSEN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.198 PSEN2 Zornitza Stark Marked gene: PSEN2 as ready
Early-onset Dementia v0.198 PSEN2 Zornitza Stark Gene: psen2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.198 PSEN2 Zornitza Stark Phenotypes for gene: PSEN2 were changed from to Alzheimer disease-4 (MIM#606889)
Early-onset Dementia v0.197 PSEN2 Zornitza Stark Publications for gene: PSEN2 were set to
Early-onset Dementia v0.196 PSEN2 Zornitza Stark Mode of inheritance for gene: PSEN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.195 SQSTM1 Zornitza Stark Marked gene: SQSTM1 as ready
Early-onset Dementia v0.195 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.195 SQSTM1 Zornitza Stark Phenotypes for gene: SQSTM1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437)
Early-onset Dementia v0.194 SQSTM1 Zornitza Stark Publications for gene: SQSTM1 were set to
Early-onset Dementia v0.193 SQSTM1 Zornitza Stark Mode of inheritance for gene: SQSTM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.192 SQSTM1 Zornitza Stark Classified gene: SQSTM1 as Amber List (moderate evidence)
Early-onset Dementia v0.192 SQSTM1 Zornitza Stark Gene: sqstm1 has been classified as Amber List (Moderate Evidence).
Early-onset Dementia v0.191 TARDBP Zornitza Stark Marked gene: TARDBP as ready
Early-onset Dementia v0.191 TARDBP Zornitza Stark Gene: tardbp has been classified as Green List (High Evidence).
Early-onset Dementia v0.191 TARDBP Zornitza Stark Phenotypes for gene: TARDBP were changed from to Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069)
Early-onset Dementia v0.190 TARDBP Zornitza Stark Publications for gene: TARDBP were set to
Early-onset Dementia v0.189 TARDBP Zornitza Stark Mode of inheritance for gene: TARDBP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.188 TBK1 Zornitza Stark Marked gene: TBK1 as ready
Early-onset Dementia v0.188 TBK1 Zornitza Stark Gene: tbk1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.188 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439
Early-onset Dementia v0.187 TBK1 Zornitza Stark Publications for gene: TBK1 were set to
Early-onset Dementia v0.186 TBK1 Zornitza Stark Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.185 TYROBP Zornitza Stark Marked gene: TYROBP as ready
Early-onset Dementia v0.185 TYROBP Zornitza Stark Gene: tyrobp has been classified as Green List (High Evidence).
Early-onset Dementia v0.185 TYROBP Zornitza Stark Phenotypes for gene: TYROBP were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770)
Early-onset Dementia v0.184 TYROBP Zornitza Stark Publications for gene: TYROBP were set to
Early-onset Dementia v0.183 TYROBP Zornitza Stark Mode of inheritance for gene: TYROBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1115 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant to Intellectual developmental disorder, autosomal recessive 45 (MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant
Mendeliome v1.1114 FBXO31 Zornitza Stark Phenotypes for gene: FBXO31 were changed from Mental retardation, autosomal recessive 45, MIM#615979; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant to Mental retardation, autosomal recessive 45, MIM#615979; Cerebral palsy, MONDO:0006497, FBXO31-related; Spastic-dystonic cerebral palsy, intellectual disability, de novo dominant
Mendeliome v1.1113 FBXO31 Zornitza Stark Publications for gene: FBXO31 were set to 24623383; 32989326
Early-onset Dementia v0.182 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Early-onset Dementia v0.182 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Early-onset Dementia v0.182 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from to Parkinson disease 14, autosomal recessive, MIM# 612953
Early-onset Dementia v0.181 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Early-onset Dementia v0.180 PLA2G6 Zornitza Stark Mode of inheritance for gene: PLA2G6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.107 DOCK11 Zornitza Stark Marked gene: DOCK11 as ready
Inflammatory bowel disease v0.107 DOCK11 Zornitza Stark Gene: dock11 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.107 DOCK11 Zornitza Stark Phenotypes for gene: DOCK11 were changed from Inflammatory bowel disease to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Inflammatory bowel disease
Inflammatory bowel disease v0.106 DOCK11 Zornitza Stark Classified gene: DOCK11 as Green List (high evidence)
Inflammatory bowel disease v0.106 DOCK11 Zornitza Stark Gene: dock11 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.105 DOCK11 Zornitza Stark reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v0.242 Zornitza Stark removed gene:PLK4 from the panel
Skeletal dysplasia v0.241 PLK4 Zornitza Stark changed review comment from: At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.; to: At least 3 unrelated families reported with autosomal recessive developmental disorder characterised by delayed psychomotor development, visual impairment, and microcephaly.

Short stature but no specific skeletal abnormalities.
Skeletal dysplasia v0.241 PLK4 Zornitza Stark edited their review of gene: PLK4: Changed rating: RED
Skeletal dysplasia v0.241 PHF6 Zornitza Stark changed review comment from: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected.

More than 20 families reported.; to: Clinical features are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected.

More than 20 families reported.

Abnormal skeletal features including thickened calvarium and abnormal vertebrae reported.
Inflammatory bowel disease v0.105 DOCK11 Peter McNaughton gene: DOCK11 was added
gene: DOCK11 was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: DOCK11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DOCK11 were set to PMID: 37342957; PMID: 36952639
Phenotypes for gene: DOCK11 were set to Inflammatory bowel disease
Added comment: 12 patients across 2 studies described. Severe gastrointestinal disease was observed in most of the patients, manifested as ulcerative colitis-like or Crohn's disease-like inflammatory bowel disease, unspecified ileitis, and colitis. Oral and anal ulcerations or ileus affected 6 of the patients.
Sources: Literature
Callosome v0.501 ATP6V0C Zornitza Stark Phenotypes for gene: ATP6V0C were changed from neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related to Epilepsy, early-onset, with or without developmental delay, MIM#620465; neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
Intellectual disability syndromic and non-syndromic v0.5336 ATP6V0C Zornitza Stark Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly
Genetic Epilepsy v0.1881 ATP6V0C Zornitza Stark Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly
Genetic Epilepsy v0.1880 ATP6V0C Zornitza Stark edited their review of gene: ATP6V0C: Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM#620465, Intellectual disability, seizures
Mendeliome v1.1112 ATP6V0C Zornitza Stark Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly
Mendeliome v1.1111 ATP6V0C Zornitza Stark edited their review of gene: ATP6V0C: Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM#620465, Epilepsy, Intellectual Disability, microcephaly
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.24 HNRNPA1 Zornitza Stark changed review comment from: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; to: PMID 34722876: single multigenerational family reported with slowly progressive distal myopathy and 160bp deletion involving exon 10.
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.24 HNRNPA1 Zornitza Stark Phenotypes for gene: HNRNPA1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 to Myopathy, distal, 3, MIM# 610099; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.23 HNRNPA1 Zornitza Stark Publications for gene: HNRNPA1 were set to 23455423; 27066560
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.22 HNRNPA1 Zornitza Stark edited their review of gene: HNRNPA1: Added comment: PMID 34722876: single multigenerational family reported with distal myopathy and 160bp deletion involving exon 10.; Changed publications: 23455423, 34291734, 34722876; Changed phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426, Myopathy, distal, 3, MIM# 610099
Early-onset Dementia v0.179 PLA2G6 Sangavi Sivagnanasundram reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: None; Publications: 25634434, 26836416, 22406380, 20938027; Phenotypes: Parkinson disease 14, autosomal recessive 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1111 FBXO31 Ain Roesley reviewed gene: FBXO31: Rating: AMBER; Mode of pathogenicity: None; Publications: 35019165, 24623383; Phenotypes: Intellectual developmental disorder, autosomal recessive 45 (MIM#615979); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Early-onset Dementia v0.179 TYROBP Sangavi Sivagnanasundram reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301376; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (MIM#221770); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.179 TBK1 Sangavi Sivagnanasundram reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301623; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 616439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.179 TARDBP Sangavi Sivagnanasundram reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301761, 21803454; Phenotypes: Amyotrophic lateral sclerosis 10, with or without FTD (MIM#612069); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.179 SQSTM1 Sangavi Sivagnanasundram reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22084127, 22972638; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MIM#616437); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.179 PSEN2 Sangavi Sivagnanasundram reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22503161, 20301340, 25323700, 35491795; Phenotypes: Alzheimer disease-4 (MIM#606889); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.179 PSEN1 Sangavi Sivagnanasundram reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503161, 20301340; Phenotypes: Alzheimer disease, type 3 (MIM#607822, MONDO:0011913); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.179 PRNP Sangavi Sivagnanasundram reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27910931, 19571725, 20301407, 6351815; Phenotypes: Prion Disease (MIM#176640), Creutzfeldt-Jakob disease (MIM#123400); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.179 PANK2 Sangavi Sivagnanasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24600523, 23447832, 19480328; Phenotypes: Neurodegeneration with brain iron accumulation 1 (MIM#234200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.179 OPTN Sangavi Sivagnanasundram reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31838784, 20428114, 20301623; Phenotypes: Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (MIM#613435); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early-onset Dementia v0.179 NPC2 Sangavi Sivagnanasundram reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27792009, 20525256; Phenotypes: Niemann-pick disease, type C2 MIM#607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.179 NPC1 Sangavi Sivagnanasundram edited their review of gene: NPC1: Changed rating: AMBER
Early-onset Dementia v0.179 NPC1 Sangavi Sivagnanasundram changed review comment from: NPC is a slowly progressive lysosomal disorder with subtle cognitive impairment in affected individuals at first which progresses to dementia during the disease course. LoF is the mechanism of disease.

PMID: 11182931
reported in one individual with NPC and dementia as a phenotype.; to: NPC is a slowly progressive lysosomal disorder with subtle cognitive impairment in affected individuals at first which progresses to dementia during the disease course. NPC type 1 is also known as "juvenile alzheimers disease". LoF is the mechanism of disease.

PMID: 11182931
reported in one individual with NPC and dementia as a phenotype.
Early-onset Dementia v0.179 NPC1 Sangavi Sivagnanasundram edited their review of gene: NPC1: Changed rating: GREEN; Changed publications: 20301473, 11182931, 22495346
Early-onset Dementia v0.179 NHLRC1 Sangavi Sivagnanasundram reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556688, 34117373; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora Disease) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v1.1 Zornitza Stark Panel name changed from Baby Screen+ newborn screening to BabyScreen+ newborn screening
Hereditary Neuropathy v1.0 Bryony Thompson promoted panel to version 1.0
Hereditary Neuropathy v0.275 SPAST Bryony Thompson Marked gene: SPAST as ready
Hereditary Neuropathy v0.275 SPAST Bryony Thompson Gene: spast has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.275 SPAST Sangavi Sivagnanasundram changed review comment from: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 322442913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; to: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 32242913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.
Hereditary Neuropathy v0.275 SPAST Sangavi Sivagnanasundram Deleted their comment
Hereditary Neuropathy v0.275 SPAST Sangavi Sivagnanasundram edited their review of gene: SPAST: Changed publications: 32242913, 22192498, 26374131, 20301339
Hereditary Neuropathy v0.275 HEXA Bryony Thompson Marked gene: HEXA as ready
Hereditary Neuropathy v0.275 HEXA Bryony Thompson Gene: hexa has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.275 PLA2G6 Sangavi Sivagnanasundram edited their review of gene: PLA2G6: Added comment: Established gene-disease associated with neuropathy as a clinical feature.

PMID: 25164370
9 individuals from 6 unrelated families with motor or sensory-motor neuropathy. All individuals were found to share the p.V691del variant which is a founder variant in the North African population.; Changed rating: GREEN; Changed publications: 25164370
Hereditary Neuropathy v0.275 PDHA1 Sangavi Sivagnanasundram edited their review of gene: PDHA1: Added comment: PMID: 33661577
Young boy from China with lethal neuropathy and the presence of a de novo mutation in PDHA1 (c.1167_1170del; p.Ser390LysfsTer33) that is clinically significant for Leigh Syndrome. PDCD is known a biochemical pathway in individuals with Leigh Syndrome.

PMID: 36693417
Multiple reported individual with sensory-motor polyneuropathy and a high serum lactate. One individual identified with a hemizygous mutation (p.Arg88Cys) causative of pyruvate dehydrogenase complex deficiency.; Changed rating: GREEN; Changed publications: 33661577, 36693417, 34138529; Changed phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM#312170
Hereditary Neuropathy v0.275 MTTP Sangavi Sivagnanasundram edited their review of gene: MTTP: Added comment: Reported in multiple individuals with progressive neuropathy due to the deficiency of fat-soluble vitamins (vitamins E, A, D, K). Neuropathy typically presents due to a lack of vitamin E in individuals.; Changed rating: GREEN; Changed publications: 10679949, 29540175
Hereditary Neuropathy v0.275 HEXA Bryony Thompson Publications for gene: HEXA were set to
Hereditary Neuropathy v0.274 ERCC8 Sangavi Sivagnanasundram edited their review of gene: ERCC8: Added comment: Established gene-disease association with progressive neuropathy a feature in individuals with Cockayne Syndrome.

PMID: 29422660
In vitro minigene assay was conducted to test the splice effect of c.173+1119G>C which showed the introduction of a premature termination codon at the end of exon resulting in loss of function of the ERCC8 protein.; Changed rating: GREEN; Changed publications: 25453614, 29422660, 4320535
Hereditary Neuropathy v0.274 ERCC6 Sangavi Sivagnanasundram edited their review of gene: ERCC6: Added comment: PMID: 25376329
Two siblings from a consanguineous family with bilateral peripheral neuropathy and a homozygous splice variant in ERCC6 (c.1992+3A>G).

PMID: 25453614
Progressive neuropathy has been identified in multiple individuals with Cockayne Syndrome.; Changed rating: GREEN; Changed publications: 25376329, 25453614
Hereditary Neuropathy v0.274 ASAH1 Sangavi Sivagnanasundram edited their review of gene: ASAH1: Added comment: PMID:27026573
Siblings from a consanguineous family with SMA phenotype and a homozygous mutation in ASAH1.

PMID: 22703880
5 individuals from 2 unrelated families with SMA and a homozygous mutation (Thr42Met) in ASAH1.

In vivo functional assay using Zebrafish model showed a loss in motor neuron axonal branching and increased apotheosis in the spinal cord suggesting that ASAH plays an integral role in motor-axonal branching and in the survival of spinal cord neurons.; Changed rating: GREEN; Changed publications: 27026573, 22703880; Changed phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950)
Hereditary Neuropathy v0.274 SPAST Sangavi Sivagnanasundram edited their review of gene: SPAST: Added comment: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 322442913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; Changed rating: GREEN; Changed publications: 322442913, 22192498, 26374131, 20301339
Hereditary Neuropathy v0.274 HEXA Sangavi Sivagnanasundram changed review comment from: HEXA is associated with the clinical phenotype known as Tay-Sachs disease.
Evidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to confirm the presence of a HEXA genetic variant in either individual.; to: PMID: 3159334, 1838393: HEXA is associated with the clinical phenotype known as Tay-Sachs disease.
Evidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to identify genetic pathogenesis.
Hereditary Neuropathy v0.274 HEXA Sangavi Sivagnanasundram edited their review of gene: HEXA: Added comment: Established gene disease associated with >3 unrelated individuals with neuropathy as a clinical feature.
Mutations in HEXA gene cause juvenile gm2 gangliosidosis (jGM2) and Tay Sachs is a well established form of jGM2.

PMID: 17015493
One individual with variant in HEXA and diagnosis of Tay Sachs

PMID: 18642377
Multiple individuals diagnosed with late onset tay-Sachs and identified to have axonal polyneuropathy in 8 individuals.; Changed rating: GREEN; Changed publications: 17015493, 18642377, 3159334, 1838393
Mendeliome v1.1111 TBL1XR1 Achchuthan Shanmugasundram reviewed gene: TBL1XR1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28687524, 37010288; Phenotypes: Pierpont syndrome, OMIM:602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1111 NEB Achchuthan Shanmugasundram reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: None; Publications: 12207937, 21798101, 33376055, 37010288; Phenotypes: Arthrogryposis multiplex congenita 6, OMIM:619334; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1111 ECEL1 Achchuthan Shanmugasundram reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30131190, 37010288; Phenotypes: Arthrogryposis, distal, type 5D, OMIM:615065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.179 NPC1 Zornitza Stark Marked gene: NPC1 as ready
Early-onset Dementia v0.179 NPC1 Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence).
Early-onset Dementia v0.179 NPC1 Zornitza Stark Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, type C1 (MIM#257220; MONDO:0009757)
Early-onset Dementia v0.178 NPC1 Zornitza Stark Publications for gene: NPC1 were set to
Early-onset Dementia v0.177 NPC1 Zornitza Stark Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.176 UBQLN2 Zornitza Stark Phenotypes for gene: UBQLN2 were changed from Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857) to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)
Early-onset Dementia v0.175 UBQLN2 Zornitza Stark Marked gene: UBQLN2 as ready
Early-onset Dementia v0.175 UBQLN2 Zornitza Stark Gene: ubqln2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.175 UBQLN2 Zornitza Stark Phenotypes for gene: UBQLN2 were changed from to Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857)
Early-onset Dementia v0.174 UBQLN2 Zornitza Stark Publications for gene: UBQLN2 were set to
Early-onset Dementia v0.173 UBQLN2 Zornitza Stark Mode of inheritance for gene: UBQLN2 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)
Hereditary Neuropathy v0.274 IFRD1 Zornitza Stark Tag refuted tag was added to gene: IFRD1.
Early-onset Dementia v0.172 VCP Zornitza Stark Marked gene: VCP as ready
Early-onset Dementia v0.172 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Early-onset Dementia v0.172 VCP Zornitza Stark Phenotypes for gene: VCP were changed from to Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320); Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954)
Early-onset Dementia v0.171 VCP Zornitza Stark Publications for gene: VCP were set to
Early-onset Dementia v0.170 VCP Zornitza Stark Mode of inheritance for gene: VCP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.169 XK Zornitza Stark Marked gene: XK as ready
Early-onset Dementia v0.169 XK Zornitza Stark Gene: xk has been classified as Green List (High Evidence).
Early-onset Dementia v0.169 XK Zornitza Stark Phenotypes for gene: XK were changed from to McLeod syndrome with or without chronic granulomatous disease (MIM#300842)
Early-onset Dementia v0.168 XK Zornitza Stark Publications for gene: XK were set to
Early-onset Dementia v0.167 XK Zornitza Stark Mode of inheritance for gene: XK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early-onset Dementia v0.166 XK Zornitza Stark reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early-onset Dementia v0.166 GRN Zornitza Stark Marked gene: GRN as ready
Early-onset Dementia v0.166 GRN Zornitza Stark Gene: grn has been classified as Green List (High Evidence).
Early-onset Dementia v0.166 GRN Zornitza Stark Phenotypes for gene: GRN were changed from to frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923
Early-onset Dementia v0.165 GRN Zornitza Stark Publications for gene: GRN were set to
Early-onset Dementia v0.164 GRN Zornitza Stark Mode of inheritance for gene: GRN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.163 EPM2A Zornitza Stark Marked gene: EPM2A as ready
Early-onset Dementia v0.163 EPM2A Zornitza Stark Gene: epm2a has been classified as Green List (High Evidence).
Early-onset Dementia v0.163 EPM2A Zornitza Stark Phenotypes for gene: EPM2A were changed from to Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780
Early-onset Dementia v0.162 EPM2A Zornitza Stark Publications for gene: EPM2A were set to
Early-onset Dementia v0.161 EPM2A Zornitza Stark Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.160 NPC1 Sangavi Sivagnanasundram reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301473, 11182931; Phenotypes: Niemann-Pick disease, type C1 (MIM#257220, MONDO:0009757); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.274 PEX12 Bryony Thompson Marked gene: PEX12 as ready
Hereditary Neuropathy v0.274 PEX12 Bryony Thompson Gene: pex12 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.274 PEX12 Bryony Thompson Publications for gene: PEX12 were set to 24627108
Hereditary Neuropathy v0.273 PEX12 Bryony Thompson Classified gene: PEX12 as Green List (high evidence)
Hereditary Neuropathy v0.273 PEX12 Bryony Thompson Gene: pex12 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.272 PEX12 Bryony Thompson Deleted their comment
Hereditary Neuropathy v0.272 PEX12 Bryony Thompson edited their review of gene: PEX12: Added comment: Neuropathy as a feature of the conditon in 45% (9/14) families with an Egyptian founder variant ((c.1047_1049del p.(Gln349del)) and also in an additional proband.; Changed rating: GREEN; Changed publications: 24627108, 33123925
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Marked gene: NIPA1 as ready
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Classified gene: NIPA1 as Green List (high evidence)
Hereditary Neuropathy v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.271 NIPA1 Bryony Thompson edited their review of gene: NIPA1: Added comment: Neuropathy is not a prominent feature of the complicated HSP sometimes reported associated with this gene. However, it has been reported in 6/110 (5.5%) of NIPA1-associated complicated HSP cases.; Changed rating: GREEN; Changed publications: 34863451
Hereditary Neuropathy v0.271 NIPA1 Bryony Thompson Deleted their comment
Early-onset Dementia v0.160 UBQLN2 Sangavi Sivagnanasundram reviewed gene: UBQLN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301623, 31319884, 21857683, 30348461; Phenotypes: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (MIM#300857); Mode of inheritance: None
Hereditary Neuropathy v0.271 IFRD1 Bryony Thompson Marked gene: IFRD1 as ready
Hereditary Neuropathy v0.271 IFRD1 Bryony Thompson Gene: ifrd1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.271 DCAF8 Bryony Thompson Marked gene: DCAF8 as ready
Hereditary Neuropathy v0.271 DCAF8 Bryony Thompson Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.271 DCAF8 Bryony Thompson Publications for gene: DCAF8 were set to
Hereditary Neuropathy v0.270 CCT5 Bryony Thompson Marked gene: CCT5 as ready
Hereditary Neuropathy v0.270 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.270 CCT5 Bryony Thompson Publications for gene: CCT5 were set to
Hereditary Neuropathy v0.269 CCT5 Bryony Thompson edited their review of gene: CCT5: Added comment: Now two families reported with two different missense variants (Leu224Val and His147Arg).; Changed publications: 16399879, 25124038, 25345891, 33076433, 37237456
Mendeliome v1.1111 CCT5 Bryony Thompson edited their review of gene: CCT5: Added comment: Now two families reported with two different missense variants (Leu224Val and His147Arg).; Changed publications: 16399879, 25124038, 25345891, 33076433, 37237456
Early-onset Dementia v0.160 VCP Sangavi Sivagnanasundram reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15034582, 30103325, 21145000; Phenotypes: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (MIM#167320), Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (MIM#613954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.160 XK Sangavi Sivagnanasundram reviewed gene: XK: Rating: RED; Mode of pathogenicity: None; Publications: 12899725; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy v0.269 TYMP Bryony Thompson Marked gene: TYMP as ready
Hereditary Neuropathy v0.269 TYMP Bryony Thompson Gene: tymp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.269 PMM2 Bryony Thompson Marked gene: PMM2 as ready
Hereditary Neuropathy v0.269 PMM2 Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.269 PMM2 Bryony Thompson Publications for gene: PMM2 were set to
Hereditary Neuropathy v0.268 PRNP Bryony Thompson Marked gene: PRNP as ready
Hereditary Neuropathy v0.268 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.268 PRNP Bryony Thompson Phenotypes for gene: PRNP were changed from Prion diseases to Prion diseases; peripheral neuropathy; chronic diarrhea; dementia
Hereditary Neuropathy v0.267 PRNP Bryony Thompson Publications for gene: PRNP were set to
Hereditary Neuropathy v0.266 PRNP Bryony Thompson reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953922, 31907995, 29928661, 27716661, 26926995, 24224623, 26768678; Phenotypes: peripheral neuropathy, chronic diarrhea, dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5335 ZFHX4 Ain Roesley Phenotypes for gene: ZFHX4 were changed from Developmental disorders; intellectual disability, dysmorphic features to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)
Hereditary Neuropathy v0.266 PMM2 Sangavi Sivagnanasundram edited their review of gene: PMM2: Changed rating: GREEN
Mendeliome v1.1111 ZFHX4 Ain Roesley Phenotypes for gene: ZFHX4 were changed from Developmental disorders to neurodevelopmental disorder, ZFHX4-related (MONDO:0700092)
Hereditary Neuropathy v0.266 GLA Bryony Thompson Marked gene: GLA as ready
Hereditary Neuropathy v0.266 GLA Bryony Thompson Gene: gla has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.266 GLA Bryony Thompson Publications for gene: GLA were set to
Hereditary Neuropathy v0.265 EXOSC8 Bryony Thompson Deleted their review
Hereditary Neuropathy v0.265 EXOSC8 Bryony Thompson commented on gene: EXOSC8
Hereditary Neuropathy v0.265 EXOSC8 Bryony Thompson Deleted their review
Early-onset Dementia v0.160 GRN Sangavi Sivagnanasundram reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301545, 17436289; Phenotypes: frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.265 DARS2 Bryony Thompson Marked gene: DARS2 as ready
Hereditary Neuropathy v0.265 DARS2 Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence).
Early-onset Dementia v0.160 EPM2A Sangavi Sivagnanasundram reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12019207; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.531 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461
Genetic Epilepsy v0.1880 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461
Mendeliome v1.1110 RNH1 Zornitza Stark Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; {Encephalopathy, acute, infection-induced, susceptibiliyt to, 12}, MIM# 620461
Early-onset Dementia v0.160 DNMT1 Sangavi Sivagnanasundram reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21532572; Phenotypes: Neuropathy, hereditary sensory, type IE (MIM#614116); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.160 DNAJC5 Sangavi Sivagnanasundram reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 6153706, 11489285, 12112194, 12790899; Phenotypes: Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant (MIM#162350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.160 CSF1R Sangavi Sivagnanasundram reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22934315, 24336230; Phenotypes: Leukoencephalopathy, diffuse hereditary, with spheroids 1 (MIM#221820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early-onset Dementia v0.160 CHMP2B Sangavi Sivagnanasundram reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20301378, 16041373; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795, MONDO:0010936); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders v1.12 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from Becker's naevus to Becker nevus, somatic mosaic, MIM# 604919
Mosaic skin disorders v1.11 ACTB Zornitza Stark reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Becker nevus, somatic mosaic, MIM# 604919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Dementia v0.160 APP Sangavi Sivagnanasundram reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301340, 1671712, 1678058, 1908231, 1302033; Phenotypes: Alzheimer disease (MIM#104300, MONDO:0007088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.265 SPAST Sangavi Sivagnanasundram reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: None; Publications: 20301339; Phenotypes: Spastic paraplegia 4, autosomal dominant 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.265 PMM2 Sangavi Sivagnanasundram reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: 20301507, 20301289; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Predominantly Antibody Deficiency v0.125 FNIP1 Peter McNaughton gene: FNIP1 was added
gene: FNIP1 was added to Predominantly Antibody Deficiency. Sources: Literature
Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FNIP1 were set to PMID: 37522988; PMID: 32181500; PMID: 32905580 (2020)
Phenotypes for gene: FNIP1 were set to Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia; Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Review for gene: FNIP1 was set to GREEN
Added comment: PMID: 37522988 (2023)- Additional patient with - Peripheral B cell deficiency, severe hypogammaglobulinemia/agammaglobulinemia, intermittent neutropenia responsive to G-CSF treatment, in conjunction with hypertrophic cardiomyopathy of the ventricle associated with Wolff-Parkinson-White Syndrome, and psycho-motor as well as intellectual developmental delay.

PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.

- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.
Sources: Literature
Hereditary Neuropathy v0.265 HEXA Sangavi Sivagnanasundram reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: None; Publications: 3159334, 1838393; Phenotypes: Tay-Sachs disease MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.265 ASAH1 Sangavi Sivagnanasundram reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis (MIM#228000), Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1109 HNRNPC Zornitza Stark Marked gene: HNRNPC as ready
Mendeliome v1.1109 HNRNPC Zornitza Stark Gene: hnrnpc has been classified as Green List (High Evidence).
Mendeliome v1.1109 HNRNPC Zornitza Stark Classified gene: HNRNPC as Green List (high evidence)
Mendeliome v1.1109 HNRNPC Zornitza Stark Gene: hnrnpc has been classified as Green List (High Evidence).
Mendeliome v1.1108 HNRNPC Zornitza Stark gene: HNRNPC was added
gene: HNRNPC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HNRNPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPC were set to 37541189
Phenotypes for gene: HNRNPC were set to Neurodevelopmental disorder (MONDO:0700092), HNRNPC-related
Review for gene: HNRNPC was set to GREEN
Added comment: 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. Five had an identical in-frame deletion of nine amino acids in the extreme C terminus. Supportive functional data; haploinsufficiency is the mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5334 HNRNPC Zornitza Stark Marked gene: HNRNPC as ready
Intellectual disability syndromic and non-syndromic v0.5334 HNRNPC Zornitza Stark Gene: hnrnpc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5334 HNRNPC Zornitza Stark Classified gene: HNRNPC as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5334 HNRNPC Zornitza Stark Gene: hnrnpc has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5333 HNRNPC Zornitza Stark gene: HNRNPC was added
gene: HNRNPC was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: HNRNPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPC were set to 37541189
Phenotypes for gene: HNRNPC were set to Neurodevelopmental disorder (MONDO:0700092), HNRNPC-related
Review for gene: HNRNPC was set to GREEN
Added comment: 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. Five had an identical in-frame deletion of nine amino acids in the extreme C terminus.

Supportive functional data; haploinsufficiency is the mechanism.
Sources: Literature
Hereditary Neuropathy v0.265 XK Zornitza Stark Marked gene: XK as ready
Hereditary Neuropathy v0.265 XK Zornitza Stark Gene: xk has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.265 XK Zornitza Stark Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease (MIM#300842)
Hereditary Neuropathy v0.264 XK Zornitza Stark Publications for gene: XK were set to
Hereditary Neuropathy v0.263 TWNK Zornitza Stark Marked gene: TWNK as ready
Hereditary Neuropathy v0.263 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.263 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 to Perrault syndrome (MIM#616138); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286
Hereditary Neuropathy v0.262 TWNK Zornitza Stark Publications for gene: TWNK were set to 25254289; 25355836; 27650058; 28178980
Hereditary Neuropathy v0.261 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.261 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.260 TWNK Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35011763; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.260 TWNK Zornitza Stark Publications for gene: TWNK were set to
Hereditary Neuropathy v0.259 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.258 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Hereditary Neuropathy v0.258 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.258 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from Fibrosis of extraocular muscles, congenital, 3A; HMSN to Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Neuropathy
Hereditary Neuropathy v0.257 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Hereditary Neuropathy v0.256 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34652576; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638), Neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.256 TTR Zornitza Stark Marked gene: TTR as ready
Hereditary Neuropathy v0.256 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.256 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN to Amyloidosis, hereditary, transthyretin-related MIM#105210; Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Hereditary Neuropathy v0.255 TTR Zornitza Stark Publications for gene: TTR were set to
Hereditary Neuropathy v0.254 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Hereditary Neuropathy v0.254 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.254 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791; MIM#612073); ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Hereditary Neuropathy v0.253 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Hereditary Neuropathy v0.252 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Amber List (moderate evidence)
Hereditary Neuropathy v0.252 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.251 SUCLA2 Zornitza Stark reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35235001; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1107 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 to neurodevelopmental disorder, MONDO:0700092, PSMC3-related; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Mendeliome v1.1106 PSMC3 Zornitza Stark Publications for gene: PSMC3 were set to 32500975
Mendeliome v1.1105 PSMC3 Zornitza Stark Mode of inheritance for gene: PSMC3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1104 PSMC3 Zornitza Stark Classified gene: PSMC3 as Green List (high evidence)
Mendeliome v1.1104 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Green List (High Evidence).
Mendeliome v1.1103 PSMC3 Zornitza Stark edited their review of gene: PSMC3: Added comment: PMID:37256937 - 23 individuals with neurodevelopmental disorder was identified with 15 different de novo missense variants. Apart from one child (patient 2), all others had developmental delay characterised by speech delay (19/19) alone or with intellectual disability (16/18) and motor delay (15/19). In addition, structural modeling as well as proteomic and transcriptomic analyses of T cells derived from patients with PSMC3 variants implicated the PSMC3 variants in proteasome dysfunction through disruption of substrate translocation, induction of proteotoxic stress, and alterations in proteins controlling developmental and innate immune program.; Changed rating: GREEN; Changed publications: 32500975, 37256937; Changed phenotypes: neurodevelopmental disorder, MONDO:0700092, PSMC3-related, Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5332 PSMC3 Zornitza Stark Mode of inheritance for gene: PSMC3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5331 PSMC3 Zornitza Stark Mode of inheritance for gene: PSMC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5330 PSMC3 Zornitza Stark Phenotypes for gene: PSMC3 were changed from Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 to neurodevelopmental disorder, MONDO:0700092, PSMC3-related; Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Intellectual disability syndromic and non-syndromic v0.5329 PSMC3 Zornitza Stark Publications for gene: PSMC3 were set to 32500975
Intellectual disability syndromic and non-syndromic v0.5328 PSMC3 Zornitza Stark Mode of inheritance for gene: PSMC3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5327 PSMC3 Zornitza Stark Classified gene: PSMC3 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5327 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.251 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Hereditary Neuropathy v0.251 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.251 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN to PCWH Syndrome (MIM#609136; MONDO:0012198); Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN
Hereditary Neuropathy v0.250 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Hereditary Neuropathy v0.249 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Hereditary Neuropathy v0.249 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.249 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Hereditary Neuropathy v0.248 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Hereditary Neuropathy v0.247 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Hereditary Neuropathy v0.247 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.247 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Hereditary Neuropathy v0.246 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Mendeliome v1.1103 EMC1 Zornitza Stark Publications for gene: EMC1 were set to 26942288; 29271071
Mendeliome v1.1102 EMC1 Zornitza Stark Mode of inheritance for gene: EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5326 EMC1 Zornitza Stark Publications for gene: EMC1 were set to 26942288; 29271071
Intellectual disability syndromic and non-syndromic v0.5325 EMC1 Zornitza Stark Mode of inheritance for gene: EMC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.245 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Hereditary Neuropathy v0.245 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.245 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 to Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)
Hereditary Neuropathy v0.244 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to
Hereditary Neuropathy v0.243 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Hereditary Neuropathy v0.243 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.243 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy to Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719); acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary Neuropathy v0.242 SCYL1 Zornitza Stark Publications for gene: SCYL1 were set to
Hereditary Neuropathy v0.241 SACS Zornitza Stark Marked gene: SACS as ready
Hereditary Neuropathy v0.241 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.241 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type; HMSN to Charlevoix-Saguenay spastic ataxia (MONDO:0010041; MIM#270550)
Hereditary Neuropathy v0.240 SACS Zornitza Stark Publications for gene: SACS were set to
Hereditary Neuropathy v0.239 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Hereditary Neuropathy v0.239 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Hereditary Neuropathy v0.239 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.239 PTRH2 Zornitza Stark Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy to Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary Neuropathy v0.238 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Hereditary Neuropathy v0.237 XK Sangavi Sivagnanasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11761473; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy v0.237 TWNK Sangavi Sivagnanasundram reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289, 25355836, 27650058, 28178980; Phenotypes: Perrault syndrome (MIM#616138); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 TUBB3 Sangavi Sivagnanasundram reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20074521; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.237 TTR Sangavi Sivagnanasundram reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301373, 8071954, 19180884, 24101130; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.237 SUCLA2 Sangavi Sivagnanasundram reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: 20301762; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5324 PSMC3 Achchuthan Shanmugasundram reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37256937; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.237 SOX10 Sangavi Sivagnanasundram reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 15004559; Phenotypes: PCWH Syndrome (MIM#609136, MONDO:0012198); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.237 SNAP29 Sangavi Sivagnanasundram reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: None; Publications: 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 SLC52A3 Sangavi Sivagnanasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331; Phenotypes: Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1101 EMC1 Chern Lim edited their review of gene: EMC1: Changed rating: GREEN
Mendeliome v1.1101 EMC1 Chern Lim reviewed gene: EMC1: Rating: ; Mode of pathogenicity: None; Publications: 35234901, 26942288; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.5324 EMC1 Chern Lim reviewed gene: EMC1: Rating: ; Mode of pathogenicity: None; Publications: 35234901, 26942288; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Neuropathy v0.237 SLC52A2 Sangavi Sivagnanasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 24253200; Phenotypes: Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 SCYL1 Sangavi Sivagnanasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719), acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v1.0 Zornitza Stark promoted panel to version 1.0
Hereditary Neuropathy v0.237 SACS Sangavi Sivagnanasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301432, 20876471; Phenotypes: Charlevoix-Saguenay spastic ataxia (MONDO:0010041, MIM#270550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.237 PTRH2 Sangavi Sivagnanasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25574476, 27129381, 28328138; Phenotypes: Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.186 SYNE1 Zornitza Stark reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type MIM#618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998, Spinocerebellar ataxia, autosomal recessive 8 MIM#610743; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.12 RELA Zornitza Stark Marked gene: RELA as ready
Autoinflammatory Disorders v1.12 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.12 RELA Zornitza Stark Phenotypes for gene: RELA were changed from periodic fever, inflammatory bowel disease, JIA to Mucocutaneous ulceration, chronic, MIM# 618287; periodic fever, inflammatory bowel disease, JIA
Autoinflammatory Disorders v1.11 RELA Zornitza Stark Classified gene: RELA as Green List (high evidence)
Autoinflammatory Disorders v1.11 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.10 RELA Zornitza Stark reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Combined Immunodeficiency v1.43 RELA Zornitza Stark Publications for gene: RELA were set to 28600438; 29305315
Combined Immunodeficiency v1.42 RELA Zornitza Stark Classified gene: RELA as Green List (high evidence)
Combined Immunodeficiency v1.42 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.41 RELA Zornitza Stark edited their review of gene: RELA: Added comment: Additional 6 individuals from five families reported.; Changed rating: GREEN; Changed publications: 28600438, 29305315, 37273177; Changed phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287, Impaired NFkB activation, reduced production of inflammatory cytokines, autoimmune cytopaenias
Mendeliome v1.1101 RELA Zornitza Stark Publications for gene: RELA were set to 28600438; 29305315
Mendeliome v1.1100 RELA Zornitza Stark Classified gene: RELA as Green List (high evidence)
Mendeliome v1.1100 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.105 RELA Zornitza Stark changed review comment from: Additional 6 individuals from two families reported.; to: Additional 6 individuals from five families reported.
Mendeliome v1.1099 RELA Zornitza Stark changed review comment from: Additional 6 individuals from two families reported.; to: Additional 6 individuals from five families reported.
Mendeliome v1.1099 RELA Zornitza Stark edited their review of gene: RELA: Added comment: Additional 6 individuals from two families reported.; Changed rating: GREEN; Changed publications: 28600438, 29305315, 37273177; Changed phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287, Impaired NFkB activation, reduced production of inflammatory cytokines, autoimmune cytopaenias
Inflammatory bowel disease v0.105 RELA Zornitza Stark Marked gene: RELA as ready
Inflammatory bowel disease v0.105 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.105 RELA Zornitza Stark Phenotypes for gene: RELA were changed from Inflammatory bowel disease to Mucocutaneous ulceration, chronic, MIM# 618287; Inflammatory bowel disease
Inflammatory bowel disease v0.104 RELA Zornitza Stark Classified gene: RELA as Green List (high evidence)
Inflammatory bowel disease v0.104 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.103 RELA Zornitza Stark edited their review of gene: RELA: Added comment: Additional 6 individuals from two families reported.; Changed rating: GREEN; Changed publications: 37273177
Inflammatory bowel disease v0.103 RELA Zornitza Stark reviewed gene: RELA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.237 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Hereditary Neuropathy v0.237 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.237 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy to Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Hereditary Neuropathy v0.236 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Hereditary Neuropathy v0.235 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Hereditary Neuropathy v0.235 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.235 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN to Optic atrophy plus syndrome (MIM#125250)
Hereditary Neuropathy v0.234 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Hereditary Neuropathy v0.233 PDYN Zornitza Stark Marked gene: PDYN as ready
Hereditary Neuropathy v0.233 PDYN Zornitza Stark Gene: pdyn has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.233 PDYN Zornitza Stark Phenotypes for gene: PDYN were changed from Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23 to Spinocerebellar ataxia 23 (MIM#610245); Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23
Hereditary Neuropathy v0.232 PDYN Zornitza Stark Publications for gene: PDYN were set to
Hereditary Neuropathy v0.231 PDYN Zornitza Stark reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.231 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Hereditary Neuropathy v0.231 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.231 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Hereditary Neuropathy v0.230 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Hereditary Neuropathy v0.230 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.229 PHYH Zornitza Stark Marked gene: PHYH as ready
Hereditary Neuropathy v0.229 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.229 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease; Phytanic acid storage disease to Refsum Disease MIM#266500
Hereditary Neuropathy v0.228 PHYH Zornitza Stark Publications for gene: PHYH were set to
Hereditary Neuropathy v0.227 PHYH Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.227 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Hereditary Neuropathy v0.227 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.227 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI to Infantile neuroaxonal dystrophy 1 (MIM#256600); Neurodegeneration with brain iron accumulation 2B (MIM#610217)
Hereditary Neuropathy v0.226 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Hereditary Neuropathy v0.225 PLA2G6 Zornitza Stark reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29859652; Phenotypes: Infantile neuroaxonal dystrophy 1 (MIM#256600), Neurodegeneration with brain iron accumulation 2B (MIM#610217), Parkinson disease 14, autosomal recessive (MIM#612953); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1099 DPP9 Zornitza Stark Phenotypes for gene: DPP9 were changed from Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias to Hatipoglu immunodeficiency syndrome MIM#620331; Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias
Mendeliome v1.1098 DPP9 Zornitza Stark Phenotypes for gene: DPP9 were changed from Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias
Mendeliome v1.1097 DPP9 Zornitza Stark Publications for gene: DPP9 were set to 36112693
Mendeliome v1.1096 DPP9 Zornitza Stark Mode of inheritance for gene: DPP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1095 DPP9 Zornitza Stark edited their review of gene: DPP9: Added comment: Amber for mono-allelic association:

de novo monoallelic dominant-negative mutation in DPP9 (c.755G>C, R252P) presenting with HLH at ~2m. Functional data supporting dominant negative mechanism.; Changed publications: 36112693, 37544411; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.10 DPP9 Zornitza Stark Mode of inheritance for gene: DPP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.225 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Hereditary Neuropathy v0.225 PLP1 Zornitza Stark Gene: plp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.225 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN to Pelizaeus-Merzbacher disease (MIM#312080)
Hereditary Neuropathy v0.224 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Hereditary Neuropathy v0.223 PLP1 Zornitza Stark Classified gene: PLP1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.223 PLP1 Zornitza Stark Gene: plp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.222 PNKP Zornitza Stark Marked gene: PNKP as ready
Hereditary Neuropathy v0.222 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.222 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN to Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589); Ataxia-oculomotor apraxia 4 (MIM#616267)
Hereditary Neuropathy v0.221 PNKP Zornitza Stark Publications for gene: PNKP were set to
Hereditary Neuropathy v0.220 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Hereditary Neuropathy v0.220 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.220 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia to Laurence-Moon Syndrome (LMS) MIM#245800; Spastic Paraplegia Type 39 MIM#612020
Hereditary Neuropathy v0.219 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Cerebral Palsy v1.186 ADNP Zornitza Stark Classified gene: ADNP as Green List (high evidence)
Cerebral Palsy v1.186 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.218 PRNP Sangavi Sivagnanasundram changed review comment from: Neuropathy not an established feature of CAA - only one reported family.
PMID: 24224623
Multigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.; to: Neuropathy not an established feature of PRNP-related CAA - only one reported family.
PMID: 24224623
Multigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.
Hereditary Neuropathy v0.218 POLG Zornitza Stark Marked gene: POLG as ready
Hereditary Neuropathy v0.218 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.218 POLG Zornitza Stark Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Hereditary Neuropathy v0.217 POLG Zornitza Stark Publications for gene: POLG were set to
Hereditary Neuropathy v0.216 PRNP Sangavi Sivagnanasundram reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: 24224623; Phenotypes: Inherited prion disease, Cerebral amyloid angiopathy, PRNP-related (MIM#137440); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.216 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.35 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension to Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related
Pulmonary Arterial Hypertension v1.33 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD4-related
Pulmonary Arterial Hypertension v1.32 SMAD4 Zornitza Stark Tag disputed tag was added to gene: SMAD4.
Pulmonary Arterial Hypertension v1.32 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, SMAD4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.32 SMAD1 Zornitza Stark Tag disputed tag was added to gene: SMAD1.
Pulmonary Arterial Hypertension v1.32 SMAD1 Zornitza Stark Phenotypes for gene: SMAD1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD1-related
Pulmonary Arterial Hypertension v1.31 SMAD1 Zornitza Stark reviewed gene: SMAD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, SMAD1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.31 NOTCH3 Zornitza Stark Phenotypes for gene: NOTCH3 were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related
Pulmonary Arterial Hypertension v1.30 NOTCH3 Zornitza Stark Tag disputed tag was added to gene: NOTCH3.
Pulmonary Arterial Hypertension v1.30 NOTCH3 Zornitza Stark reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.30 BMPR1B Zornitza Stark Tag disputed tag was added to gene: BMPR1B.
Pulmonary Arterial Hypertension v1.30 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMPR1B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1095 PDGFD Zornitza Stark Marked gene: PDGFD as ready
Mendeliome v1.1095 PDGFD Zornitza Stark Gene: pdgfd has been classified as Red List (Low Evidence).
Mendeliome v1.1095 PDGFD Zornitza Stark gene: PDGFD was added
gene: PDGFD was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PDGFD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFD were set to 33187088; 33971972
Phenotypes for gene: PDGFD were set to Pulmonary arterial hypertension MONDO:0015924, PDGFD-related
Review for gene: PDGFD was set to RED
Added comment: Rated as LIMITED by ClinGen. 10 unique variants (all missense) that have been reported in 10 probands in 2 publications (PMIDs: 33187088, 33971972) are included in this curation. 9 of these variants were observed in a cohort of 1647 idiopathic pulmonary arterial hypertension (IPAH) patients of European Ancestry as part of a case-control study. Variant aggregation analysis revealed a significant burden (p=0.0000172) of likely gene damaging PDGFD variants in the IPAH cohort as compared to a group of 18,819 European controls (PMID:33971972). Gelinas et al. also reported a missense PDGFD variant in a proband with IPAH (PMID:33187088). There is currently no functional evidence demonstrating a damaging effect of any of the reported PDGFD variants in humans.
Sources: Expert list
Pulmonary Arterial Hypertension v1.30 PDGFD Zornitza Stark Marked gene: PDGFD as ready
Pulmonary Arterial Hypertension v1.30 PDGFD Zornitza Stark Gene: pdgfd has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.30 PDGFD Zornitza Stark gene: PDGFD was added
gene: PDGFD was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: PDGFD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDGFD were set to 33187088; 33971972
Phenotypes for gene: PDGFD were set to Pulmonary arterial hypertension MONDO:0015924, PDGFD-related
Review for gene: PDGFD was set to RED
Added comment: Rated as LIMITED by ClinGen.

10 unique variants (all missense) that have been reported in 10 probands in 2 publications (PMIDs: 33187088, 33971972) are included in this curation. 9 of these variants were observed in a cohort of 1647 idiopathic pulmonary arterial hypertension (IPAH) patients of European Ancestry as part of a case-control study. Variant aggregation analysis revealed a significant burden (p=0.0000172) of likely gene damaging PDGFD variants in the IPAH cohort as compared to a group of 18,819 European controls (PMID:33971972). Gelinas et al. also reported a missense PDGFD variant in a proband with IPAH (PMID:33187088). There is currently no functional evidence demonstrating a damaging effect of any of the reported PDGFD variants in humans.
Sources: Expert list
Mendeliome v1.1094 KLF2 Zornitza Stark Phenotypes for gene: KLF2 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, KLF2-related
Mendeliome v1.1093 KLF2 Zornitza Stark edited their review of gene: KLF2: Changed phenotypes: Pulmonary arterial hypertension MONDO:0015924, KLF2-related
Pulmonary Arterial Hypertension v1.29 KLF2 Zornitza Stark Phenotypes for gene: KLF2 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, KLF2-related
Pulmonary Arterial Hypertension v1.28 KLF2 Zornitza Stark reviewed gene: KLF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, KLF2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1093 FBLN2 Zornitza Stark Marked gene: FBLN2 as ready
Mendeliome v1.1093 FBLN2 Zornitza Stark Gene: fbln2 has been classified as Red List (Low Evidence).
Mendeliome v1.1093 FBLN2 Zornitza Stark gene: FBLN2 was added
gene: FBLN2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: FBLN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBLN2 were set to 33971972
Phenotypes for gene: FBLN2 were set to Pulmonary arterial hypertension MONDO:0015924, FBLN2-related
Review for gene: FBLN2 was set to RED
Added comment: LIMITED by ClinGen. Out of a cohort of 1647 idiopathic PAH cases, 3 rare predicted deleterious missense variants were identified in 6 unrelated individuals with one variant recurrent in four individuals. Gene-disease association also supported by tissue expression data.
Sources: Expert list
Pulmonary Arterial Hypertension v1.28 FBLN2 Zornitza Stark Marked gene: FBLN2 as ready
Pulmonary Arterial Hypertension v1.28 FBLN2 Zornitza Stark Gene: fbln2 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.28 FBLN2 Zornitza Stark gene: FBLN2 was added
gene: FBLN2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: FBLN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBLN2 were set to 33971972
Phenotypes for gene: FBLN2 were set to Pulmonary arterial hypertension MONDO:0015924, FBLN2-related
Review for gene: FBLN2 was set to RED
Added comment: LIMITED by ClinGen. Out of a cohort of 1647 idiopathic PAH cases, 3 rare predicted deleterious missense variants were identified in 6 unrelated individuals with one variant recurrent in four individuals. Gene-disease association also supported by tissue expression data.
Sources: Expert list
Pulmonary Arterial Hypertension v1.27 BMP10 Zornitza Stark Phenotypes for gene: BMP10 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, BMP10-related
Pulmonary Arterial Hypertension v1.26 BMP10 Zornitza Stark Publications for gene: BMP10 were set to 30578383
Pulmonary Arterial Hypertension v1.25 BMP10 Zornitza Stark reviewed gene: BMP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29843651, 33187088, 31661308, 30578383; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMP10-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1092 AQP1 Zornitza Stark Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Mendeliome v1.1091 AQP1 Zornitza Stark Publications for gene: AQP1 were set to PMID:22683574; 29650961
Mendeliome v1.1090 AQP1 Zornitza Stark Classified gene: AQP1 as Amber List (moderate evidence)
Mendeliome v1.1090 AQP1 Zornitza Stark Gene: aqp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1089 AQP1 Zornitza Stark reviewed gene: AQP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37007933, 35627312; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.25 AQP1 Zornitza Stark Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension MONDO:0015924, AQP2-related to Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Pulmonary Arterial Hypertension v1.24 AQP1 Zornitza Stark edited their review of gene: AQP1: Changed phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP1-related
Pulmonary Arterial Hypertension v1.24 AQP1 Zornitza Stark Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, AQP2-related
Pulmonary Arterial Hypertension v1.23 AQP1 Zornitza Stark Publications for gene: AQP1 were set to 22683574; 29650961
Pulmonary Arterial Hypertension v1.22 AQP1 Zornitza Stark Classified gene: AQP1 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v1.22 AQP1 Zornitza Stark Gene: aqp1 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.21 AQP1 Zornitza Stark reviewed gene: AQP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37007933, 35627312; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1089 TET2 Zornitza Stark Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126 to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126; Pulmonary arterial hypertension MONDO:0015924, TET2-related
Mendeliome v1.1088 TET2 Zornitza Stark Publications for gene: TET2 were set to 30890702; 31827242; 32330418
Mendeliome v1.1087 TET2 Zornitza Stark changed review comment from: Association with PAH:
MODERATE by ClinGen. TET2 was first reported in relation to autosomal dominant pulmonary arterial hypertension (PAH) in 2020 (Potus et al., PMID: 32192357). Out of a cohort of 2572 cases from the PAH biobank, 6 rare predicted deleterious likely germline variants including missense, nonsense, and frameshift variants were identified in 6 unrelated individuals. The relationship between TET2 and PAH is also supported by experimental evidence including tissue expression in controls and patients, biochemical function as a negative regulator of a proinflammatory response, and knock out TET2 mice exhibiting a PH phenotype.; to: Association with PAH:
MODERATE by ClinGen/Amber rating here. TET2 was first reported in relation to autosomal dominant pulmonary arterial hypertension (PAH) in 2020 (Potus et al., PMID: 32192357). Out of a cohort of 2572 cases from the PAH biobank, 6 rare predicted deleterious likely germline variants including missense, nonsense, and frameshift variants were identified in 6 unrelated individuals. The relationship between TET2 and PAH is also supported by experimental evidence including tissue expression in controls and patients, biochemical function as a negative regulator of a proinflammatory response, and knock out TET2 mice exhibiting a PH phenotype.
Mendeliome v1.1087 TET2 Zornitza Stark edited their review of gene: TET2: Added comment: Association with PAH:
MODERATE by ClinGen. TET2 was first reported in relation to autosomal dominant pulmonary arterial hypertension (PAH) in 2020 (Potus et al., PMID: 32192357). Out of a cohort of 2572 cases from the PAH biobank, 6 rare predicted deleterious likely germline variants including missense, nonsense, and frameshift variants were identified in 6 unrelated individuals. The relationship between TET2 and PAH is also supported by experimental evidence including tissue expression in controls and patients, biochemical function as a negative regulator of a proinflammatory response, and knock out TET2 mice exhibiting a PH phenotype.; Changed publications: 30890702, 31827242, 32330418, 32518946, 32192357; Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency-75 (IMD75), MIM#619126, Pulmonary arterial hypertension MONDO:0015924, TET2-related
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Marked gene: TET2 as ready
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Gene: tet2 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Classified gene: TET2 as Amber List (moderate evidence)
Pulmonary Arterial Hypertension v1.21 TET2 Zornitza Stark Gene: tet2 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.20 TET2 Zornitza Stark edited their review of gene: TET2: Changed rating: AMBER
Pulmonary Arterial Hypertension v1.20 TET2 Zornitza Stark gene: TET2 was added
gene: TET2 was added to Pulmonary Arterial Hypertension. Sources: Expert list
Mode of inheritance for gene: TET2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TET2 were set to 32192357
Phenotypes for gene: TET2 were set to Pulmonary arterial hypertension MONDO:0015924, TET2-related
Added comment: MODERATE by ClinGen.

TET2 was first reported in relation to autosomal dominant pulmonary arterial hypertension (PAH) in 2020 (Potus et al., PMID: 32192357). Out of a cohort of 2572 cases from the PAH biobank, 6 rare predicted deleterious likely germline variants including missense, nonsense, and frameshift variants were identified in 6 unrelated individuals. The relationship between TET2 and PAH is also supported by experimental evidence including tissue expression in controls and patients, biochemical function as a negative regulator of a proinflammatory response, and knock out TET2 mice exhibiting a PH phenotype.
Sources: Expert list
Pulmonary Arterial Hypertension v1.19 GGCX Zornitza Stark reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 ABCC8 Zornitza Stark reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924, ABCC8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 SOX17 Zornitza Stark reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 SMAD9 Zornitza Stark reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 KDR Zornitza Stark commented on gene: KDR: DEFINITIVE by ClinGen.
Pulmonary Arterial Hypertension v1.19 KCNK3 Zornitza Stark reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 4 MIM#615344; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 GDF2 Zornitza Stark reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy v0.215 POLG Sangavi Sivagnanasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.185 ADNP Luisa Weiss edited their review of gene: ADNP: Added comment: In addition to the previous cases, there is one case report of a boy with the full phenotypic picture of Helsmoortel-van der Aa syndrome and hypotonic cerebral palsy. Note that hypotonia is one feature of Helsmoortel-van der Aa syndrome, but hypotonic cerebral palsy seems to be rare.; Changed rating: GREEN; Changed publications: 29780943; Changed phenotypes: Helsmoortel-van der Aa syndrome MIM#615873
Pulmonary Arterial Hypertension v1.19 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 3 MIM#615343; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 ATP13A3 Zornitza Stark commented on gene: ATP13A3: DEFINITIVE by ClinGen.
Hereditary Neuropathy v0.215 PNPLA6 Sangavi Sivagnanasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299038, 18313024; Phenotypes: Laurence-Moon Syndrome (LMS) MIM#245800, Spastic Paraplegia Type 39 MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PNKP Sangavi Sivagnanasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30039206, 27066567, 25728773; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589), Ataxia-oculomotor apraxia 4 (MIM#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PLP1 Sangavi Sivagnanasundram reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301361, 11872612; Phenotypes: Pelizaeus-Merzbacher disease (MIM#312080); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory Disorders v1.9 DPP9 Peter McNaughton edited their review of gene: DPP9: Added comment: de novo monoallelic dominant-negative mutation in DPP9 (c.755G>C, R252P) presenting with HLH at ~2m. Functional data supporting dominant negative mechanism.; Changed publications: PMID: 37544411; Changed phenotypes: HLH; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PLA2G6 Sangavi Sivagnanasundram reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1 (MIM#256600), Neurodegeneration with brain iron accumulation 2B (MIM#610217), Parkinson disease 14, autosomal recessive (MIM#612953); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PHYH Sangavi Sivagnanasundram reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: None; Publications: 2433405, 20301527; Phenotypes: Adult Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PEX7 Sangavi Sivagnanasundram reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: 20301447, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B (MIM#614879); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 PDYN Sangavi Sivagnanasundram reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: None; Publications: 21035104; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.215 OPA1 Sangavi Sivagnanasundram reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240368, 18065439, 20157015, 21112924; Phenotypes: Optic atrophy plus syndrome (MIM#125250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy v0.215 NGLY1 Sangavi Sivagnanasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581936, 27388694, 29419975; Phenotypes: Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Inflammatory bowel disease v0.103 RELA Peter McNaughton gene: RELA was added
gene: RELA was added to Inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RELA were set to PMID: 37273177
Phenotypes for gene: RELA were set to Inflammatory bowel disease
Review for gene: RELA was set to GREEN
Added comment: Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement. Complete penetrance was observed for IBD
Sources: Literature
Autoinflammatory Disorders v1.9 RELA Peter McNaughton gene: RELA was added
gene: RELA was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RELA were set to PMID: 37273177
Phenotypes for gene: RELA were set to periodic fever, inflammatory bowel disease, JIA
Review for gene: RELA was set to GREEN
Added comment: Dominant negative RELA mutations in six patients from five unrelated families. Phenotypic overlap with RELA haploinsufficiency - chronic mucocutaneous ulcerations and autoimmune hematological disorders such as immune thrombocytopenia (ITP) and neutropenia. Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement.
Sources: Literature
Cerebral Palsy v1.185 SYNE1 Luisa Weiss Deleted their comment
Cerebral Palsy v1.185 SYNE1 Luisa Weiss edited their review of gene: SYNE1: Added comment: Two cases each in two larger CP cohort studies, one with ataxic and one with spastic CP, with biallelic SYNE1 mutations.
In addition, one case report of an 18-year-old girl with CP and a heterozygous SYNE1-mutation. Not that this patient had a history of perinatal distress and asphyxia. The SYNE1 mutation was discovered at the age of 18 years due to a hypertrophic cardiomyopathy. It is uncertain whether the SYNE1 mutation is the cause for the CP.; Changed rating: GREEN; Changed publications: 34321325, 34816117, 31110749; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital ophthalmoplegia v1.8 HNRNPA2B1 Zornitza Stark Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.22 HNRNPA2B1 Zornitza Stark Phenotypes for gene: HNRNPA2B1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014178; oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
Mendeliome v1.1087 HNRNPA2B1 Zornitza Stark Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngeal muscular dystrophy, MONDO:0008116; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422
Hereditary Neuropathy v0.215 SURF1 Sangavi Sivagnanasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Charcot-Marie-Tooth disease, type 4K (MIM#616684, MONDO:0014733); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 TECPR2 Sangavi Sivagnanasundram reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36137062, 26542466, 23176824; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (HSAN) (MIM#615031); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 TYMP Sangavi Sivagnanasundram reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: Other; Publications: 20301358, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1086 AGAP1 Zornitza Stark Phenotypes for gene: AGAP1 were changed from Cerebral palsy to Cerebral palsy, MONDO:0006497, AGAP1-related
Mendeliome v1.1085 AGAP1 Zornitza Stark edited their review of gene: AGAP1: Changed phenotypes: Cerebral palsy, MONDO:0006497, AGAP1-related
Cerebral Palsy v1.184 AGAP1 Zornitza Stark Phenotypes for gene: AGAP1 were changed from Neurodevelopmental disorder, MONDO:0700092, AGAP1-related to Cerebral palsy, MONDO:0006497, AGAP1-related
Cerebral Palsy v1.183 AGAP1 Zornitza Stark Phenotypes for gene: AGAP1 were changed from Cerebral palsy to Neurodevelopmental disorder, MONDO:0700092, AGAP1-related
Cerebral Palsy v1.182 AGAP1 Zornitza Stark Publications for gene: AGAP1 were set to 31700678; 25666757; 30472483
Cerebral Palsy v1.181 AGAP1 Zornitza Stark Tag SV/CNV tag was added to gene: AGAP1.
Cerebral Palsy v1.181 HPDL Zornitza Stark Publications for gene: HPDL were set to 33634263
Cerebral Palsy v1.180 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Cerebral Palsy v1.180 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Cerebral Palsy v1.179 MAP2K1 Zornitza Stark Marked gene: MAP2K1 as ready
Cerebral Palsy v1.179 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.179 MAP2K1 Zornitza Stark Classified gene: MAP2K1 as Green List (high evidence)
Cerebral Palsy v1.179 MAP2K1 Zornitza Stark Gene: map2k1 has been classified as Green List (High Evidence).
Mendeliome v1.1085 PRDM10 Zornitza Stark Phenotypes for gene: PRDM10 were changed from Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086 to Birt-Hogg-Dube syndrome 2, MIM# 620459
Mendeliome v1.1084 PRDM10 Zornitza Stark reviewed gene: PRDM10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Birt-Hogg-Dube syndrome 2, MIM# 620459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.136 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458
Fetal anomalies v1.135 PLCB4 Zornitza Stark reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.240 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669; Cleft palate to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458; Cleft palate
Clefting disorders v0.239 PLCB4 Zornitza Stark edited their review of gene: PLCB4: Changed phenotypes: AAuriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458
Pierre Robin Sequence v0.47 PLCB4 Zornitza Stark edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458
Pierre Robin Sequence v0.47 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458
Mendeliome v1.1084 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458
Mendeliome v1.1083 PLCB4 Zornitza Stark edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458
Mandibulofacial Acrofacial dysostosis v1.9 PLCB4 Zornitza Stark Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458
Mandibulofacial Acrofacial dysostosis v1.8 PLCB4 Zornitza Stark edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Marked gene: TBX5 as ready
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Classified gene: TBX5 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.166 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.165 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Review for gene: TBX5 was set to GREEN
Added comment: DCM is a feature of this congenital disorder.
Sources: Expert Review
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Classified gene: TBX20 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.164 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.163 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022
Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy, MONDO:0005021, TBX20-related
Review for gene: TBX20 was set to GREEN
Added comment: Multiple reports in literature, including of children. Also aware of additional four families identified internally, publication pending.
Sources: Literature
Dilated Cardiomyopathy v1.22 TBX20 Zornitza Stark Phenotypes for gene: TBX20 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021, TBX20-related
Dilated Cardiomyopathy v1.21 TBX20 Zornitza Stark Publications for gene: TBX20 were set to 26118961; 17668378; 27510170
Dilated Cardiomyopathy v1.20 TBX20 Zornitza Stark Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v1.19 TBX20 Zornitza Stark Classified gene: TBX20 as Green List (high evidence)
Dilated Cardiomyopathy v1.19 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.18 TBX20 Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 35282022; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, TBX20-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Cardiomyopathy_Paediatric v0.162 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.161 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to Cardiomyopathy_Paediatric. Sources: Expert Review
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to 29367541; 29447731; 30847666; 33082984; 32183154; 33500567; 34540771; 34350506; 34935411
Phenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Review for gene: PRDM16 was set to GREEN
Added comment: Paediatric onset reported.
Sources: Expert Review
Motor Neurone Disease v0.192 LRP12-ALS_CGG Zornitza Stark Marked STR: LRP12-ALS_CGG as ready
Motor Neurone Disease v0.192 LRP12-ALS_CGG Zornitza Stark Str: lrp12-als_cgg has been classified as Green List (High Evidence).
Motor Neurone Disease v0.192 LRP12-ALS_CGG Zornitza Stark Phenotypes for STR: LRP12-ALS_CGG were changed from Amyotrophic lateral sclerosis MONDO:0004976 to Amyotrophic lateral sclerosis MONDO:0004976; Amyotrophic lateral sclerosis 28, MIM# 620452
Mendeliome v1.1083 IL1R1 Zornitza Stark Marked gene: IL1R1 as ready
Mendeliome v1.1083 IL1R1 Zornitza Stark Gene: il1r1 has been classified as Red List (Low Evidence).
Mendeliome v1.1083 IL1R1 Zornitza Stark gene: IL1R1 was added
gene: IL1R1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IL1R1 were set to 37315560
Phenotypes for gene: IL1R1 were set to Chronic recurrent multifocal osteomyelitis 3, MIM# 259680
Review for gene: IL1R1 was set to RED
Added comment: Single individual reported with de novo missense variant in this gene and a phenotype of chronic recurrent multifocal osteomyelitis, auto inflammatory in nature. Some functional data presented.
Sources: Literature
Autoinflammatory Disorders v1.9 IL1R1 Zornitza Stark Marked gene: IL1R1 as ready
Autoinflammatory Disorders v1.9 IL1R1 Zornitza Stark Gene: il1r1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.9 IL1R1 Zornitza Stark gene: IL1R1 was added
gene: IL1R1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IL1R1 were set to 37315560
Phenotypes for gene: IL1R1 were set to Chronic recurrent multifocal osteomyelitis 3, MIM# 259680
Review for gene: IL1R1 was set to RED
Added comment: Single individual reported with de novo missense variant in this gene and a phenotype of chronic recurrent multifocal osteomyelitis, auto inflammatory in nature. Some functional data presented.
Sources: Literature
Mendeliome v1.1082 STAB1 Zornitza Stark Marked gene: STAB1 as ready
Mendeliome v1.1082 STAB1 Zornitza Stark Gene: stab1 has been classified as Green List (High Evidence).
Mendeliome v1.1082 STAB1 Zornitza Stark Classified gene: STAB1 as Green List (high evidence)
Mendeliome v1.1082 STAB1 Zornitza Stark Gene: stab1 has been classified as Green List (High Evidence).
Mendeliome v1.1081 RINT1 Zornitza Stark Phenotypes for gene: RINT1 were changed from Recurrent acute liver failure to Infantile liver failure syndrome 3, MIM# 618641
Hereditary Spastic Paraplegia v1.68 RINT1 Zornitza Stark Marked gene: RINT1 as ready
Hereditary Spastic Paraplegia v1.68 RINT1 Zornitza Stark Gene: rint1 has been classified as Amber List (Moderate Evidence).
Hereditary Spastic Paraplegia v1.68 RINT1 Zornitza Stark Phenotypes for gene: RINT1 were changed from Hereditary spastic paraplegia, MONDO:0019064, RINT1-related to Infantile liver failure syndrome 3, MIM# 618641; Hereditary spastic paraplegia, MONDO:0019064, RINT1-related
Hereditary Spastic Paraplegia v1.67 RINT1 Zornitza Stark Classified gene: RINT1 as Amber List (moderate evidence)
Hereditary Spastic Paraplegia v1.67 RINT1 Zornitza Stark Gene: rint1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1080 SMARCA4 Zornitza Stark Phenotypes for gene: SMARCA4 were changed from Coffin-Siris syndrome 4, MIM# 614609 to Coffin-Siris syndrome 4, MIM# 614609; Otosclerosis MONDO:0005349, SMARCA4-related
Mendeliome v1.1079 SMARCA4 Zornitza Stark Publications for gene: SMARCA4 were set to 22426308
Intellectual disability syndromic and non-syndromic v0.5324 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5324 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5323 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Intellectual disability syndromic and non-syndromic v0.5323 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Mendeliome v1.1078 TBC1D31 Zornitza Stark Marked gene: TBC1D31 as ready
Mendeliome v1.1078 TBC1D31 Zornitza Stark Gene: tbc1d31 has been classified as Red List (Low Evidence).
Mendeliome v1.1078 TBC1D31 Zornitza Stark Classified gene: TBC1D31 as Red List (low evidence)
Mendeliome v1.1078 TBC1D31 Zornitza Stark Gene: tbc1d31 has been classified as Red List (Low Evidence).
Leukodystrophy v0.296 AQP4 Zornitza Stark Marked gene: AQP4 as ready
Leukodystrophy v0.296 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.296 AQP4 Zornitza Stark Classified gene: AQP4 as Amber List (moderate evidence)
Leukodystrophy v0.296 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Leukodystrophy v0.295 AQP4 Zornitza Stark gene: AQP4 was added
gene: AQP4 was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AQP4 were set to 37143309
Phenotypes for gene: AQP4 were set to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Review for gene: AQP4 was set to AMBER
Added comment: Borderline Amber/Red.

PMID: 37143309 Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit.

Western blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression.
Sources: Literature
Early-onset Parkinson disease v0.243 PTPA Zornitza Stark Publications for gene: PTPA were set to 36073231
Early-onset Parkinson disease v0.242 PTPA Zornitza Stark Mode of inheritance for gene: PTPA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5323 AQP4 Zornitza Stark Marked gene: AQP4 as ready
Intellectual disability syndromic and non-syndromic v0.5323 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5323 AQP4 Zornitza Stark Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Intellectual disability syndromic and non-syndromic v0.5322 AQP4 Zornitza Stark Classified gene: AQP4 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5322 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1077 AQP4 Zornitza Stark Marked gene: AQP4 as ready
Mendeliome v1.1077 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1077 AQP4 Zornitza Stark Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Mendeliome v1.1076 AQP4 Zornitza Stark Classified gene: AQP4 as Amber List (moderate evidence)
Mendeliome v1.1076 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1879 AQP4 Zornitza Stark Marked gene: AQP4 as ready
Genetic Epilepsy v0.1879 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1879 AQP4 Zornitza Stark Phenotypes for gene: AQP4 were changed from ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Genetic Epilepsy v0.1878 AQP4 Zornitza Stark Classified gene: AQP4 as Amber List (moderate evidence)
Genetic Epilepsy v0.1878 AQP4 Zornitza Stark Gene: aqp4 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1877 AQP4 Zornitza Stark reviewed gene: AQP4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1075 EZH1 Zornitza Stark Marked gene: EZH1 as ready
Mendeliome v1.1075 EZH1 Zornitza Stark Gene: ezh1 has been classified as Green List (High Evidence).
Mendeliome v1.1075 EZH1 Zornitza Stark Classified gene: EZH1 as Green List (high evidence)
Mendeliome v1.1075 EZH1 Zornitza Stark Gene: ezh1 has been classified as Green List (High Evidence).
Mendeliome v1.1074 EZH1 Zornitza Stark gene: EZH1 was added
gene: EZH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EZH1 were set to 37433783
Phenotypes for gene: EZH1 were set to Neurodevelopmental disorder (MONDO:0700092), EZH1-related
Review for gene: EZH1 was set to GREEN
Added comment: PMID: 37433783
Variants were identified 19 individuals from 14 unrelated families, all sharing a clinical phenotype of a neurodevelopmental disorder manifested early in life as global motor, speech and cognitive delay leading to intellectual disability, usually non-progressive and co-occurring with dysmorphic facial features.

Functional studies have shown that some missense EZH1 variants lead to GOF with increased methyltransferase activity and recessive variants impair EZH1 expression causing loss of function effects.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5321 EZH1 Zornitza Stark Marked gene: EZH1 as ready
Intellectual disability syndromic and non-syndromic v0.5321 EZH1 Zornitza Stark Gene: ezh1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5321 EZH1 Zornitza Stark Phenotypes for gene: EZH1 were changed from to Neurodevelopmental disorder (MONDO:0700092), EZH1-related
Intellectual disability syndromic and non-syndromic v0.5320 EZH1 Zornitza Stark Publications for gene: EZH1 were set to
Intellectual disability syndromic and non-syndromic v0.5319 EZH1 Zornitza Stark Classified gene: EZH1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5319 EZH1 Zornitza Stark Gene: ezh1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.66 RINT1 Chern Lim gene: RINT1 was added
gene: RINT1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to 37463447
Phenotypes for gene: RINT1 were set to Hereditary spastic paraplegia, MONDO:0019064, RINT1-related
Review for gene: RINT1 was set to AMBER
gene: RINT1 was marked as current diagnostic
Added comment: PMID: 37463447
- 3 individuals from 2 unrelated families with biallelic LoF variants - hom canonical spice variant in 1 family, chet stopgain+canonical splice variants in another family.
- Affected individuals presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype.
- One of the individual died at 14 months due to acute liver failure, probably before the development of a neurological phenotype. The episodic liver dysfunction two other patients was very similar to that previously reported in PMID: 31204009.
- RNA studies showed the splice variants result in aberrant splicing. Other functional and lipidomic analyses supportive of pathogenicity.
Sources: Literature
Mendeliome v1.1073 GPRC5B Zornitza Stark Marked gene: GPRC5B as ready
Mendeliome v1.1073 GPRC5B Zornitza Stark Gene: gprc5b has been classified as Green List (High Evidence).
Mendeliome v1.1073 GPRC5B Zornitza Stark Classified gene: GPRC5B as Green List (high evidence)
Mendeliome v1.1073 GPRC5B Zornitza Stark Gene: gprc5b has been classified as Green List (High Evidence).
Mendeliome v1.1072 PHF5A Zornitza Stark Marked gene: PHF5A as ready
Mendeliome v1.1072 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Mendeliome v1.1072 PHF5A Zornitza Stark Classified gene: PHF5A as Green List (high evidence)
Mendeliome v1.1072 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Mendeliome v1.1071 SMARCA4 Paul De Fazio changed review comment from: Additional phenotype reported:

A single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested.

A mouse CRISPR model with the orthologous variant had a similar phenotype.; to: Additional phenotype reported:

A single missense variant E1610K (M_001128849.3) was reported in 7 affected members of a family with progressive hearing loss due to otosclerosis and no other clinical features. Variant is absent from gnomAD. Note that unaffected members of the family were not tested - some obligate carriers were apparently unaffected, reflecting incomplete penetrance.

A mouse CRISPR model with the orthologous variant had a similar phenotype.
Mendeliome v1.1071 CANVAS Dean Phelan reviewed STR: CANVAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37450567; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (MIM:614575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5318 PHF5A Zornitza Stark Marked gene: PHF5A as ready
Intellectual disability syndromic and non-syndromic v0.5318 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Mendeliome v1.1071 PHF5A Daniel Flanagan gene: PHF5A was added
gene: PHF5A was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF5A were set to PMID: 37422718
Phenotypes for gene: PHF5A were set to Neurodevelopmental disorder (MONDO#0700092), PHF5A-related
Review for gene: PHF5A was set to GREEN
Added comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects, and heart defects (3/9), inguinal hernia (3/9), and sacral dimple (3/9). Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects.
Sources: Expert list
Mendeliome v1.1071 TBC1D31 Lilian Rudd gene: TBC1D31 was added
gene: TBC1D31 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D31 were set to PMID: 37468454
Phenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719
Review for gene: TBC1D31 was set to RED
Added comment: Single paper with homozygous mutations in 3 sibs with CAKUT from consanguineous family
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5318 PHF5A Zornitza Stark Classified gene: PHF5A as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5318 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Mendeliome v1.1071 AQP4 Lucy Spencer gene: AQP4 was added
gene: AQP4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AQP4 were set to 37143309
Phenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Review for gene: AQP4 was set to AMBER
Added comment: PMID: 37143309
Cohort of patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit.

Western blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression.
Sources: Literature
Fetal anomalies v1.135 PHF5A Zornitza Stark Marked gene: PHF5A as ready
Fetal anomalies v1.135 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Fetal anomalies v1.135 PHF5A Zornitza Stark Phenotypes for gene: PHF5A were changed from PMID: 37422718 to Neurodevelopmental disorder (MONDO#0700092), PHF5A-related
Mitochondrial disease v0.882 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.882 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.882 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.882 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Fetal anomalies v1.134 PHF5A Zornitza Stark Publications for gene: PHF5A were set to
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Early-onset Parkinson disease v0.241 PTPA Zornitza Stark Mode of inheritance for gene: PTPA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Marked gene: CTNNB1 as ready
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5317 AQP4 Lucy Spencer gene: AQP4 was added
gene: AQP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AQP4 were set to 37143309
Phenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Review for gene: AQP4 was set to AMBER
Added comment: PMID: 37143309
Cohort patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit.

Western blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5317 PHF5A Daniel Flanagan gene: PHF5A was added
gene: PHF5A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF5A were set to PMID: 37422718
Phenotypes for gene: PHF5A were set to Neurodevelopmental disorder (MONDO#0700092), PHF5A-related
Review for gene: PHF5A was set to GREEN
Added comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects, and heart defects (3/9), inguinal hernia (3/9), and sacral dimple (3/9). Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.241 PTPA Zornitza Stark Mode of inheritance for gene: PTPA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Marked gene: GPRC5B as ready
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Fetal anomalies v1.133 PHF5A Zornitza Stark Classified gene: PHF5A as Green List (high evidence)
Fetal anomalies v1.133 PHF5A Zornitza Stark Gene: phf5a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5317 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Classified gene: CTNNB1 as Green List (high evidence)
Congenital Heart Defect v0.290 CTNNB1 Zornitza Stark Gene: ctnnb1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Marked gene: GPRC5B as ready
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mendeliome v1.1071 GPRC5B Lucy Spencer gene: GPRC5B was added
gene: GPRC5B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPRC5B were set to 37143309
Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 620447
Review for gene: GPRC5B was set to GREEN
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter.

Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity.
Sources: Literature
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Genetic Epilepsy v0.1877 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Mendeliome v1.1071 MAMDC2 Elena Savva Marked gene: MAMDC2 as ready
Mendeliome v1.1071 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.880 COX18 Elena Savva Marked gene: COX18 as ready
Mitochondrial disease v0.880 COX18 Elena Savva Gene: cox18 has been removed from the panel.
Congenital Heart Defect v0.289 CTNNB1 Zornitza Stark reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1071 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Mendeliome v1.1071 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1876 AQP4 Lucy Spencer gene: AQP4 was added
gene: AQP4 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AQP4 were set to PMID: 37143309
Phenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448
Review for gene: AQP4 was set to AMBER
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit.

Western blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression.
Sources: Literature
Mendeliome v1.1070 COX18 Elena Savva Marked gene: COX18 as ready
Mendeliome v1.1070 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mendeliome v1.1070 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mendeliome v1.1070 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Fetal anomalies v1.132 PHF5A Daniel Flanagan reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37422718; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), PHF5A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.294 GPRC5B Ain Roesley Marked gene: GPRC5B as ready
Leukodystrophy v0.294 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Leukodystrophy v0.294 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Leukodystrophy v0.294 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Mendeliome v1.1068 NAA30 Zornitza Stark Marked gene: NAA30 as ready
Mendeliome v1.1068 NAA30 Zornitza Stark Gene: naa30 has been classified as Red List (Low Evidence).
Mendeliome v1.1069 PTPA Zornitza Stark Publications for gene: PTPA were set to 36073231
Intellectual disability syndromic and non-syndromic v0.5316 EZH1 Dean Phelan reviewed gene: EZH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37433783; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), EZH1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1068 MAMDC2 Belinda Chong gene: MAMDC2 was added
gene: MAMDC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAMDC2 were set to 37503746
Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Review for gene: MAMDC2 was set to AMBER
Added comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease.
Sources: Literature
Macrocephaly_Megalencephaly v0.127 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.127 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Marked gene: GPRC5B as ready
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Mendeliome v1.1068 PTPA Zornitza Stark Mode of inheritance for gene: PTPA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Leukodystrophy v0.293 GPRC5B Lucy Spencer gene: GPRC5B was added
gene: GPRC5B was added to Leukodystrophy - paediatric. Sources: Literature
Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPRC5B were set to 37143309
Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
Review for gene: GPRC5B was set to GREEN
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter.

Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity.
Sources: Literature
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Classified gene: GPRC5B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.126 GPRC5B Ain Roesley Gene: gprc5b has been classified as Green List (High Evidence).
Mendeliome v1.1067 NAA30 Zornitza Stark Phenotypes for gene: NAA30 were changed from to neurodevelopmental disorder, MONDO:0700092, NAA30-related
Autoinflammatory Disorders v1.8 STAT4 Elena Savva Classified gene: STAT4 as Green List (high evidence)
Autoinflammatory Disorders v1.8 STAT4 Elena Savva Gene: stat4 has been classified as Green List (High Evidence).
Mendeliome v1.1066 NAA30 Zornitza Stark Mode of inheritance for gene: NAA30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Classified gene: STAT4 as Green List (high evidence)
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Gene: stat4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.4 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.4 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1065 NAA30 Zornitza Stark Classified gene: NAA30 as Red List (low evidence)
Mendeliome v1.1065 NAA30 Zornitza Stark Gene: naa30 has been classified as Red List (Low Evidence).
Mendeliome v1.1064 COX18 Naomi Baker gene: COX18 was added
gene: COX18 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to PMID:37468577
Phenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related
Review for gene: COX18 was set to RED
Added comment: Paper reports a single patient with a homozygous COX18 missense variant, with a neonatal form of mitochondrial hypertrophic cardiomyopathy, lactic acidosis, failure to thrive and neurological involvement associated with severe skeletal muscle COX deficiency. Functional studies demonstrated COX deficiency which could be partially rescued with over-expression of COX18.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Classified gene: STAT4 as Green List (high evidence)
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Gene: stat4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5316 NAA30 Zornitza Stark Marked gene: NAA30 as ready
Intellectual disability syndromic and non-syndromic v0.5316 NAA30 Zornitza Stark Gene: naa30 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.5316 NAA30 Zornitza Stark Phenotypes for gene: NAA30 were changed from to neurodevelopmental disorder, MONDO:0700092, NAA30-related
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Muscular dystrophy and myopathy_Paediatric v1.3 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.6 STAT4 Elena Savva Marked gene: STAT4 as ready
Autoinflammatory Disorders v1.6 STAT4 Elena Savva Gene: stat4 has been removed from the panel.
Genetic Epilepsy v0.1876 GPRC5B Lucy Spencer gene: GPRC5B was added
gene: GPRC5B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPRC5B were set to 37143309
Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
Review for gene: GPRC5B was set to GREEN
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter.

Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity.
Sources: Literature
Autoinflammatory Disorders v1.6 STAT4 Melanie Marty gene: STAT4 was added
gene: STAT4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: STAT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT4 were set to PMID: 37256972
Phenotypes for gene: STAT4 were set to Disabling pansclerotic morphea of childhood MIM#620443
Mode of pathogenicity for gene: STAT4 was set to Other
Review for gene: STAT4 was set to GREEN
Added comment: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. These variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.2 MAMDC2 Elena Savva Marked gene: MAMDC2 as ready
Muscular dystrophy and myopathy_Paediatric v1.2 MAMDC2 Elena Savva Gene: mamdc2 has been removed from the panel.
Intellectual disability syndromic and non-syndromic v0.5315 NAA30 Zornitza Stark Mode of inheritance for gene: NAA30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy MONDO:0020121, MAMDC2-related to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Marked gene: MAMDC2 as ready
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley Marked gene: TUFM as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley Gene: tufm has been classified as Red List (Low Evidence).
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5314 NAA30 Zornitza Stark Classified gene: NAA30 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5314 NAA30 Zornitza Stark Gene: naa30 has been classified as Red List (Low Evidence).
Mendeliome v1.1064 TUFM Ain Roesley reviewed gene: TUFM: Rating: RED; Mode of pathogenicity: None; Publications: 37461298; Phenotypes: Inherited primary ovarian failure MONDO:0019852, TUFM-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Classified gene: MAMDC2 as Amber List (moderate evidence)
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.21 MAMDC2 Elena Savva Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley edited their review of gene: TUFM: Changed publications: 37461298
Callosome v0.500 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Callosome v0.500 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.880 COX18 Naomi Baker gene: COX18 was added
gene: COX18 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to PMID:37468577
Phenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related
Review for gene: COX18 was set to RED
Added comment: Paper reports a single patient with a homozygous COX18 missense variant, with a neonatal form of mitochondrial hypertrophic cardiomyopathy, lactic acidosis, failure to thrive and neurological involvement associated with severe skeletal muscle COX deficiency. Functional studies demonstrated COX deficiency which could be partially rescued with over-expression of COX18.
Sources: Literature
Fetal anomalies v1.132 PHF5A Daniel Flanagan Deleted their review
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5314 NAA30 Zornitza Stark Classified gene: NAA30 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v0.5314 NAA30 Zornitza Stark Gene: naa30 has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.289 CTNNB1 Lilian Rudd gene: CTNNB1 was added
gene: CTNNB1 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CTNNB1 were set to PMID: 37455656
Phenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075
Added comment: Paper reviewing 19 patients; five cases presenting with different types of CHDs, including absent pulmonary valve (APV) with intact ventricular septum (IVS),
atrioventricular canal defect (AVCD), tetralogy of Fallot (ToF), and
mitral valve prolapse (MPV).
Lit review summarised about 25% of patients will have a cardiac anomaly as part of the phenotype.
Sources: Literature
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 MAMDC2 Belinda Chong edited their review of gene: MAMDC2: Changed phenotypes: Muscular Dystrophy MONDO:0020121, MAMDC2-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.314 TUFM Ain Roesley gene: TUFM was added
gene: TUFM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFM were set to 37468454
Phenotypes for gene: TUFM were set to Inherited primary ovarian failure MONDO:0019852, TUFM-related
Review for gene: TUFM was set to RED
gene: TUFM was marked as current diagnostic
Added comment: 1 family with 1 homozygote with NM_172745.3:c.524G>C: p.Gly175Ala)

in vitro functional: reduction in protein expression, decreased mitochondrial membrane potential and increased reactive oxygen species production, inhibits OXPHOS activity and results in impaired autophagy activation

mouse models recapitulates phenotype
Sources: Literature
Fetal anomalies v1.132 PHF5A Daniel Flanagan gene: PHF5A was added
gene: PHF5A was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHF5A were set to PMID: 37422718
Review for gene: PHF5A was set to GREEN
Added comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects and heart defects, inguinal hernia, and sacral dimple in three subjects. Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects.
Sources: Expert list
Macrocephaly_Megalencephaly v0.125 GPRC5B Lucy Spencer gene: GPRC5B was added
gene: GPRC5B was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPRC5B were set to 37143309
Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
Review for gene: GPRC5B was set to GREEN
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, spasticity, ataxia and dystonia, seizures, all had varying degrees of cognitive deficits. MRI showed MLC, abnormal and swollen cerebral white matter.

Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity.
Sources: Literature
Mendeliome v1.1064 STAT4 Elena Savva Publications for gene: STAT4 were set to
Mendeliome v1.1064 STAB1 Chern Lim gene: STAB1 was added
gene: STAB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAB1 were set to 37490907; 28052375
Phenotypes for gene: STAB1 were set to Iron metabolism disease (MONDO:0002279), STAB1-related
Review for gene: STAB1 was set to GREEN
gene: STAB1 was marked as current diagnostic
Added comment: PMID: 37490907
- Biallelic variants identified in 10 individuals from 7 families with unexplained hyperferritinaemia without iron overload. All of them were in good health and had no dysmorphologies, psycho-motor development abnormalities, hearing or vision disorders, or other pathologies.
- Homozygous/compound heterozygous variants: missense, frameshift, stopgain, inframe del of 3 AAs, one synonymous.
- Samples from three of the patients from two families showed no immunoreactivity with anti-stabilin-1 compared to control liver where high signal was detected in the liver sinusoids (immunohistochemistry analysis).
- Patients’ peripheral monocytes and monocyte-derived macrophages showed very little expression of stabilin-1 on CD14+ monocytes and macrophages compared to control subjects (flow cytometry analysis).
- These families have also been published in PMID: 28052375.
Sources: Literature
Mendeliome v1.1064 STAT4 Elena Savva Phenotypes for gene: STAT4 were changed from to Disabling pansclerotic morphea of childhood MIM#620443
Callosome v0.499 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Callosome v0.499 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Mendeliome v1.1064 STAT4 Melanie Marty edited their review of gene: STAT4: Changed phenotypes: Disabling pansclerotic morphea of childhood MIM#620443
Mendeliome v1.1064 STAT4 Elena Savva Mode of inheritance for gene: STAT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.1064 STAT4 Elena Savva Classified gene: STAT4 as Green List (high evidence)
Mendeliome v1.1064 STAT4 Elena Savva Gene: stat4 has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.2 MAMDC2 Belinda Chong gene: MAMDC2 was added
gene: MAMDC2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAMDC2 were set to 37503746
Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Review for gene: MAMDC2 was set to AMBER
Added comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease.
Sources: Literature
Callosome v0.499 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Callosome v0.499 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Callosome v0.498 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Callosome v0.498 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v0.240 PTPA Ee Ming Wong reviewed gene: PTPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 37448355; Phenotypes: Intellectual disability, MONDO: 36073231, PTPA-related, Parkisonism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v1.1063 PTPA Ee Ming Wong changed review comment from: - Six individuals with later-onset Parkinson disease with no atypical features eg intellectual disability or early cognitive dysfunction
- All were heterozygous for missense variants, a second hit not identified: authors suggests these are monoallelic cases
- Three of the 5 missense variants have multiple heterozygotes in gnomAD, two of the missense variants have homozygotes in gnomAD, including one with 7 homozygotes.; to: - Six individuals with later-onset Parkinson disease with no atypical features eg intellectual disability or early cognitive dysfunction
- All were heterozygous for missense variants, a second hit not identified: authors suggests these are monoallelic cases
- Three of the 5 missense variants have multiple heterozygotes in gnomAD, two of the missense variants have homozygotes in gnomAD, including one with 7 homozygotes.
Intellectual disability syndromic and non-syndromic v0.5313 GPRC5B Lucy Spencer gene: GPRC5B was added
gene: GPRC5B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GPRC5B were set to PMID: 37143309
Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447
Review for gene: GPRC5B was set to GREEN
Added comment: PMID: 37143309
Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, spasticity, ataxia and dystonia, seizures, all had varying degrees of cognitive deficits. MRI showed MLC, abnormal and swollen cerebral white matter.

Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity.
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Muscular dystrophy and myopathy_Paediatric v1.2 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Microcephaly v1.224 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Microcephaly v1.224 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.35 STAB1 Zornitza Stark Marked gene: STAB1 as ready
Metal Metabolism Disorders v0.35 STAB1 Zornitza Stark Gene: stab1 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.35 STAB1 Zornitza Stark Phenotypes for gene: STAB1 were changed from Iron metabolism metabolism, MONDO:0002279, STAB1; Hyperferritinaemia without iron overload to Iron metabolism metabolism, MONDO:0002279, STAB1-related; Hyperferritinaemia without iron overload
Muscular dystrophy and myopathy_Paediatric v1.1 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Muscular dystrophy and myopathy_Paediatric v1.1 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Mendeliome v1.1063 PTPA Ee Ming Wong reviewed gene: PTPA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37448355; Phenotypes: Intellectual disability, MONDO: 36073231, PTPA-related, Parkisonism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Metal Metabolism Disorders v0.34 STAB1 Zornitza Stark Phenotypes for gene: STAB1 were changed from Hyperferritinaemia without iron overload to Iron metabolism metabolism, MONDO:0002279, STAB1; Hyperferritinaemia without iron overload
Microcephaly v1.223 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Microcephaly v1.223 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Microcephaly v1.223 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Microcephaly v1.223 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.33 STAB1 Zornitza Stark Classified gene: STAB1 as Green List (high evidence)
Metal Metabolism Disorders v0.33 STAB1 Zornitza Stark Gene: stab1 has been classified as Green List (High Evidence).
Microcephaly v1.222 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Microcephaly v1.222 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Mendeliome v1.1063 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Mendeliome v1.1063 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Mendeliome v1.1062 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Mendeliome v1.1062 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Mendeliome v1.1062 NAA30 Sarah Pantaleo edited their review of gene: NAA30: Changed phenotypes: neurodevelopmental disorder, MONDO:0700092, NAA30-related
Autism v0.191 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Autism v0.191 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5313 NAA30 Sarah Pantaleo edited their review of gene: NAA30: Changed phenotypes: neurodevelopmental disorder, MONDO:0700092, NAA30-related
Autism v0.190 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Autism v0.190 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Autism v0.190 SLC4A10 Krithika Murali Classified gene: SLC4A10 as Green List (high evidence)
Autism v0.190 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Green List (High Evidence).
Autism v0.189 SLC4A10 Krithika Murali Marked gene: SLC4A10 as ready
Autism v0.189 SLC4A10 Krithika Murali Gene: slc4a10 has been classified as Red List (Low Evidence).
Mendeliome v1.1062 SMARCA4 Paul De Fazio reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 37399313; Phenotypes: Otosclerosis MONDO:0005349, SMARCA4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Callosome v0.498 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Callosome. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5313 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Peroxisomal Disorders v0.47 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 MAMDC2 Belinda Chong gene: MAMDC2 was added
gene: MAMDC2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature
Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAMDC2 were set to 37503746
Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy
Review for gene: MAMDC2 was set to AMBER
Added comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease.
Sources: Literature
Autism v0.189 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Autism. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Mendeliome v1.1062 NAA30 Sarah Pantaleo gene: NAA30 was added
gene: NAA30 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAA30 was set to Unknown
Publications for gene: NAA30 were set to PMID: 37387332
Penetrance for gene: NAA30 were set to unknown
Added comment: Report a de novo heterozygous NAA30 nonsense variant c.244C>T, p.(Gln82*) in a 5yo boy with GDD, ASD, hypotonia, seizures, tracheal cleft and recurrent respiratory infections. Seizures resolved after two weeks of life. Family history of ASD in older sister. Epilepsy in mother, childhood onset.

Biochemical studies performed to assess the functional impact of the premature stop codon on catalytic activity. The variant was found to completely disrupt N-terminal acetyltransferase activity using an in vitro acetylation assay.

Variant de novo, “in a gene sensitive to loss of heterozygosity”. Limitation of study - have not established whether this gene variant acts in a dominant or recessive manner.
Sources: Literature
Peroxisomal Disorders v0.46 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Peroxisomal Disorders v0.46 PEX14 Zornitza Stark Gene: pex14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5312 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Peroxisomal Disorders v0.46 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268
Intellectual disability syndromic and non-syndromic v0.5312 PIP5K1C Elena Savva Publications for gene: PIP5K1C were set to 37451268
Intellectual disability syndromic and non-syndromic v0.5311 NAA30 Sarah Pantaleo gene: NAA30 was added
gene: NAA30 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NAA30 was set to Unknown
Publications for gene: NAA30 were set to PMID: 37387332
Penetrance for gene: NAA30 were set to unknown
Review for gene: NAA30 was set to RED
Added comment: Report a de novo heterozygous NAA30 nonsense variant c.244C>T, p.(Gln82*) in a 5yo boy with GDD, ASD, hypotonia, seizures, tracheal cleft and recurrent respiratory infections. Seizures resolved after two weeks of life. Family history of ASD in older sister. Epilepsy in mother, childhood onset.

Biochemical studies performed to assess the functional impact of the premature stop codon on catalytic activity. The variant was found to completely disrupt N-terminal acetyltransferase activity using an in vitro acetylation assay.

Variant de novo, “in a gene sensitive to loss of heterozygosity”. Limitation of study - have not established whether this gene variant acts in a dominant or recessive manner.
Sources: Literature
Peroxisomal Disorders v0.46 PEX14 Zornitza Stark Publications for gene: PEX14 were set to 37493040
Microcephaly v1.222 PIP5K1C Elena Savva Publications for gene: PIP5K1C were set to 37451268
Mendeliome v1.1062 STAT4 Melanie Marty changed review comment from: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. All variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.; to: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. These variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.
Cerebral Palsy v1.178 HPDL Clare van Eyk reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35985664, PMID: 33634263, PMID: 32707086; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5311 PIP5K1C Elena Savva Publications for gene: PIP5K1C were set to
Mendeliome v1.1062 STAT4 Melanie Marty Deleted their comment
Microcephaly v1.222 PIP5K1C Elena Savva Publications for gene: PIP5K1C were set to
Peroxisomal Disorders v0.45 PEX14 Zornitza Stark Publications for gene: PEX14 were set to
Mendeliome v1.1062 STAT4 Melanie Marty commented on gene: STAT4: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. All variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.
Mendeliome v1.1062 STAT4 Melanie Marty edited their review of gene: STAT4: Changed phenotypes: Disabling pansclerotic morphea, inflammatory disorder, poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, squamous-cell carcinoma
Multiple pterygium syndrome_Fetal akinesia sequence v1.4 PIP5K1C Elena Savva Publications for gene: PIP5K1C were set to 17701898
Peroxisomal Disorders v0.45 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1062 PIP5K1C Elena Savva Publications for gene: PIP5K1C were set to 17701898
Mendeliome v1.1061 PEX14 Lilian Rudd reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37493040; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Peroxisomal Disorders v0.44 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v1.16 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Phagocyte Defects v1.16 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.16 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Phagocyte Defects v1.16 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.43 PEX14 Zornitza Stark reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phagocyte Defects v1.16 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Phagocyte Defects v1.16 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.401 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Arthrogryposis v0.401 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Phagocyte Defects v1.15 SENP7 Elena Savva Marked gene: SENP7 as ready
Phagocyte Defects v1.15 SENP7 Elena Savva Gene: senp7 has been classified as Red List (Low Evidence).
Arthrogryposis v0.400 SENP7 Elena Savva Marked gene: SENP7 as ready
Arthrogryposis v0.400 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.400 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Arthrogryposis v0.400 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Metal Metabolism Disorders v0.32 STAB1 Chern Lim gene: STAB1 was added
gene: STAB1 was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAB1 were set to 37490907; 28052375
Phenotypes for gene: STAB1 were set to Hyperferritinaemia without iron overload
Review for gene: STAB1 was set to GREEN
gene: STAB1 was marked as current diagnostic
Added comment: PMID: 37490907
- Biallelic variants identified in 10 individuals from 7 families with unexplained hyperferritinaemia without iron overload. All of them were in good health and had no dysmorphologies, psycho-motor development abnormalities, hearing or vision disorders, or other pathologies.
- Homozygous/compound heterozygous variants: missense, frameshift, stopgain, inframe del of 3 AAs, one synonymous.
- Samples from three of the patients from two families showed no immunoreactivity with anti-stabilin-1 compared to control liver where high signal was detected in the liver sinusoids (immunohistochemistry analysis).
- Patients’ peripheral monocytes and monocyte-derived macrophages showed very little expression of stabilin-1 on CD14+ monocytes and macrophages compared to control subjects (flow cytometry analysis).
- These families have also been published in PMID: 28052375.
Sources: Literature
Phagocyte Defects v1.15 SENP7 Elena Savva gene: SENP7 was added
gene: SENP7 was added to Phagocyte Defects. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to PMID: 37460201
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to AMBER
Added comment: PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: Literature
Mendeliome v1.1061 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Mendeliome v1.1061 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1060 SENP7 Elena Savva Marked gene: SENP7 as ready
Mendeliome v1.1060 SENP7 Elena Savva Gene: senp7 has been classified as Red List (Low Evidence).
Mendeliome v1.1060 STAT4 Melanie Marty reviewed gene: STAT4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37256972; Phenotypes: Disabling pansclerotic morphea, inflammatory disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1060 SENP7 Elena Savva gene: SENP7 was added
gene: SENP7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to PMID: 37460201
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to AMBER
Added comment: PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: Literature
Fetal anomalies v1.132 SENP7 Elena Savva Marked gene: SENP7 as ready
Fetal anomalies v1.132 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.132 SENP7 Elena Savva Classified gene: SENP7 as Amber List (moderate evidence)
Fetal anomalies v1.132 SENP7 Elena Savva Gene: senp7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.131 SENP7 Elena Savva gene: SENP7 was added
gene: SENP7 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to PMID: 37460201
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to AMBER
Added comment: PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: Literature
Muscular dystrophy and myopathy_Paediatric v1.1 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Peroxisomal Disorders v0.43 PEX14 Lilian Rudd reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37493040; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Arthrogryposis v0.399 SENP7 Elena Savva gene: SENP7 was added
gene: SENP7 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to PMID: 37460201
Phenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Review for gene: SENP7 was set to AMBER
Added comment: PMID: 37460201
- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.
- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.
- Additional studies performed supporting downstream proteins expression being affected
- Neutropenia observed in 2/3 patients
Sources: Literature
Hypertrophic cardiomyopathy v0.176 ALPK3 Zornitza Stark Publications for gene: ALPK3 were set to 26846950; 27106955; 32480058
Microcephaly v1.221 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.313 CLPB Zornitza Stark Marked gene: CLPB as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.313 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.313 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271; syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Marked gene: STX5 as ready
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.312 CLPB Zornitza Stark Classified gene: CLPB as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.312 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Classified gene: STX5 as Amber List (moderate evidence)
Congenital Disorders of Glycosylation v1.35 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.130 STX5 Ain Roesley Marked gene: STX5 as ready
Fetal anomalies v1.130 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1059 STX5 Ain Roesley Marked gene: STX5 as ready
Mendeliome v1.1059 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.130 STX5 Ain Roesley Classified gene: STX5 as Amber List (moderate evidence)
Fetal anomalies v1.130 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1059 STX5 Ain Roesley Publications for gene: STX5 were set to
Mendeliome v1.1058 STX5 Ain Roesley Classified gene: STX5 as Amber List (moderate evidence)
Mendeliome v1.1058 STX5 Ain Roesley Gene: stx5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1057 SLC4A10 Krithika Murali gene: SLC4A10 was added
gene: SLC4A10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to PMID: 37459438
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related
Review for gene: SLC4A10 was set to GREEN
Added comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.

Phenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.

Isolated seizures was reported in 2/10 cases.
Sources: Literature
Dystonia and Chorea v0.231 SHQ1 Zornitza Stark Publications for gene: SHQ1 were set to 34542157; 29178645
Congenital Disorders of Glycosylation v1.34 STX5 Ain Roesley gene: STX5 was added
gene: STX5 was added to Congenital Disorders of Glycosylation. Sources: Literature
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related
Review for gene: STX5 was set to AMBER
gene: STX5 was marked as current diagnostic
Added comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US).
Hom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)

phenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.
Post-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias

Primary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking
Sources: Literature
Dystonia and Chorea v0.230 SHQ1 Zornitza Stark Classified gene: SHQ1 as Green List (high evidence)
Dystonia and Chorea v0.230 SHQ1 Zornitza Stark Gene: shq1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.229 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Added comment: Two more individuals with dystonia reported.; Changed rating: GREEN; Changed publications: 34542157, 29178645, 36847845, 37475611
Mendeliome v1.1056 KDM4B Sarah Pantaleo reviewed gene: KDM4B: Rating: ; Mode of pathogenicity: None; Publications: PMID: 37526414; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM#619320; Mode of inheritance: None
Fetal anomalies v1.129 STX5 Ain Roesley gene: STX5 was added
gene: STX5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related
Review for gene: STX5 was set to AMBER
gene: STX5 was marked as current diagnostic
Added comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US).
Hom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)

phenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.
Post-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias

Primary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking
Sources: Literature
Mendeliome v1.1056 STX5 Ain Roesley edited their review of gene: STX5: Changed publications: 34711829
Mendeliome v1.1056 SHQ1 Zornitza Stark Publications for gene: SHQ1 were set to 34542157; 29178645; 36847845
Intellectual disability syndromic and non-syndromic v0.5310 KDM4B Sarah Pantaleo reviewed gene: KDM4B: Rating: ; Mode of pathogenicity: None; Publications: PMID: 37526414; Phenotypes: Intellectual developmental disorder, autosomal dominant 65, MIM#619320; Mode of inheritance: None
Mendeliome v1.1055 SHQ1 Zornitza Stark Classified gene: SHQ1 as Green List (high evidence)
Mendeliome v1.1055 SHQ1 Zornitza Stark Gene: shq1 has been classified as Green List (High Evidence).
Mendeliome v1.1054 SHQ1 Zornitza Stark edited their review of gene: SHQ1: Added comment: Additional individual with isolated, early-onset dystonia reported.

It is likely these clinical presentations are part of a spectrum.; Changed rating: GREEN; Changed publications: 34542157, 29178645, 36847845, 37475611
Mendeliome v1.1054 STX5 Ain Roesley gene: STX5 was added
gene: STX5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX5 were set to congenital disorder of glycosylation MONDO#0015286, STX5-related
Review for gene: STX5 was set to AMBER
gene: STX5 was marked as current diagnostic
Added comment: 1x family with 3x deceased shortly after death + 3x spontaneous abortions + 2x abortions due to abnormal fatal ultrasound (US).
Hom for NM_003164.4:c.163 A > G p.(Met55Val), which results in complete loss of short isoform (which uses Met55 as the start)

phenotype: short long bones on US, dysmorphism, skeletal dysplasia, profound hypotonia, hepatomegaly elevated cholesterol.
Post-natally they died of progressive liver failure with cholestasis and hyperinsulinemic hypoglycemias

Primary human dermal fibroblasts isolated from these patients show defective glycosylation, altered Golgi morphology as measured by electron microscopy, mislocalization of glycosyltransferases, and compromised ER-Golgi trafficking
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5310 EZH1 Dean Phelan gene: EZH1 was added
gene: EZH1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.178 AGAP1 Clare van Eyk changed review comment from: An additional three patients with heterozygous microdeletions and phenotypic overlap with previously described patients, but none with a CP diagnosis (PMID:36778426). Overall 4/10 patients with an AGAP1 variant have CP, however not all of these were classified as pathogenic and 2/3 of the new microdeletions are inherited suggesting incomplete penetrance. Authors show that mutant Drosophila have increased lethality from exposure to environmental insult.; to: An additional three patients with heterozygous microdeletions and phenotypic overlap with previously described patients, but none with a CP diagnosis (PMID:36778426, PMID: 37470098). Overall 4/10 patients with an AGAP1 variant have CP, however not all of these were classified as pathogenic and 2/3 of the new microdeletions are inherited suggesting incomplete penetrance. Authors show that mutant Drosophila have increased lethality from exposure to environmental insult.
Cerebral Palsy v1.178 AGAP1 Clare van Eyk reviewed gene: AGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36778426; Phenotypes: cerebral palsy, intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v0.175 ALPK3 Sarah Pantaleo reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34263907, 35783621; Phenotypes: Cardiomyopathy, familial hypertrophic 27 MIM#618052; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2180 KCNQ1 Zornitza Stark Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, MIM# 192500 to Jervell and Lange-Nielsen syndrome MIM#220400; Long QT syndrome 1, MIM# 192500
Genomic newborn screening: BabyScreen+ v0.2179 KCNQ1 Zornitza Stark Mode of inheritance for gene: KCNQ1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.2178 KCNQ1 Zornitza Stark Tag deafness tag was added to gene: KCNQ1.
Genomic newborn screening: BabyScreen+ v0.2178 DMD Zornitza Stark Classified gene: DMD as Amber List (moderate evidence)
Genomic newborn screening: BabyScreen+ v0.2178 DMD Zornitza Stark Gene: dmd has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v0.2177 DMD Zornitza Stark Tag for review was removed from gene: DMD.
Genomic newborn screening: BabyScreen+ v0.2177 DMD Zornitza Stark edited their review of gene: DMD: Added comment: Reviewed with RCH Neurology team: treatments currently not approved by the TGA. Downgrade to Amber, can be upgraded when this changes.; Changed rating: AMBER
Macrocephaly_Megalencephaly v0.125 KDM6B Elena Savva Classified gene: KDM6B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.125 KDM6B Elena Savva Gene: kdm6b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.124 KDM6B Elena Savva Classified gene: KDM6B as Green List (high evidence)
Macrocephaly_Megalencephaly v0.124 KDM6B Elena Savva Gene: kdm6b has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.123 KDM6B Elena Savva Marked gene: KDM6B as ready
Macrocephaly_Megalencephaly v0.123 KDM6B Elena Savva Gene: kdm6b has been classified as Red List (Low Evidence).
Macrocephaly_Megalencephaly v0.123 KDM6B Elena Savva gene: KDM6B was added
gene: KDM6B was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM6B were set to PMID: 37196654
Phenotypes for gene: KDM6B were set to Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities MIM#618505
Review for gene: KDM6B was set to GREEN
Added comment: Rots (2023): 17/65 probands were macrocephalic
Sources: Literature
Genomic newborn screening: BabyScreen+ v0.2177 KCNQ1 Lilian Rudd reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.215 MTTP Zornitza Stark Marked gene: MTTP as ready
Hereditary Neuropathy v0.215 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.215 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy to Abetalipoproteinemia (MIM#200100); Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy
Hereditary Neuropathy v0.214 MTTP Zornitza Stark Publications for gene: MTTP were set to
Hereditary Neuropathy v0.213 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33994405; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.213 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Hereditary Neuropathy v0.213 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.213 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Hereditary Neuropathy v0.212 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Hereditary Neuropathy v0.212 ATM Zornitza Stark Marked gene: ATM as ready
Hereditary Neuropathy v0.212 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.212 ATM Zornitza Stark Phenotypes for gene: ATM were changed from Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome to Ataxia-telangiectasia, MIM#208900; Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Hereditary Neuropathy v0.211 ATM Zornitza Stark Publications for gene: ATM were set to
Hereditary Neuropathy v0.210 ATM Zornitza Stark Classified gene: ATM as Amber List (moderate evidence)
Hereditary Neuropathy v0.210 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.209 ATM Zornitza Stark reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: 32259893; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.209 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Hereditary Neuropathy v0.209 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.209 AP1S1 Zornitza Stark Phenotypes for gene: AP1S1 were changed from Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK Syndrome (MONDO:0012251, MIM#609313); Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary Neuropathy v0.208 AP1S1 Zornitza Stark Publications for gene: AP1S1 were set to
Hereditary Neuropathy v0.207 AP1S1 Zornitza Stark reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244301; Phenotypes: MEDNIK syndrome (MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.207 ABCA1 Zornitza Stark Marked gene: ABCA1 as ready
Hereditary Neuropathy v0.207 ABCA1 Zornitza Stark Gene: abca1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.207 ABCA1 Zornitza Stark Phenotypes for gene: ABCA1 were changed from HMSN; Tangier disease to Tangier Disease (MONDO:0008783; MIM#205400)
Hereditary Neuropathy v0.206 ABCA1 Zornitza Stark Publications for gene: ABCA1 were set to
Hereditary Neuropathy v0.205 ABCA1 Zornitza Stark changed review comment from: Neuropathy is a key feature of this metabolic disorder.; to: Neuropathy is a feature of this metabolic disorder. 54 individuals with neuropathy summarised in PMID 29582519.
Hereditary Neuropathy v0.205 ABCA1 Zornitza Stark edited their review of gene: ABCA1: Changed publications: 29582519
Hereditary Neuropathy v0.205 ABCA1 Zornitza Stark reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.178 TSC1 Zornitza Stark Marked gene: TSC1 as ready
Cerebral Palsy v1.178 TSC1 Zornitza Stark Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.178 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from Focal cortical dysplasia, type II, somatic MIM#607341; Lymphangioleiomyomatosis MIM#606690; Tuberous sclerosis-1 MIM#191100 to Tuberous sclerosis-1 MIM#191100
Cerebral Palsy v1.177 TSC1 Zornitza Stark Classified gene: TSC1 as Amber List (moderate evidence)
Cerebral Palsy v1.177 TSC1 Zornitza Stark Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.176 TRAPPC9 Zornitza Stark Marked gene: TRAPPC9 as ready
Cerebral Palsy v1.176 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Cerebral Palsy v1.176 TRAPPC9 Zornitza Stark Classified gene: TRAPPC9 as Green List (high evidence)
Cerebral Palsy v1.176 TRAPPC9 Zornitza Stark Gene: trappc9 has been classified as Green List (High Evidence).
Cerebral Palsy v1.175 TMX2 Zornitza Stark Marked gene: TMX2 as ready
Cerebral Palsy v1.175 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.175 TMX2 Zornitza Stark Classified gene: TMX2 as Green List (high evidence)
Cerebral Palsy v1.175 TMX2 Zornitza Stark Gene: tmx2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.174 TMX2 Zornitza Stark reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.174 TH Zornitza Stark Marked gene: TH as ready
Cerebral Palsy v1.174 TH Zornitza Stark Gene: th has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.205 MTTP Sangavi Sivagnanasundram reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: None; Publications: 30358967; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.174 TH Zornitza Stark Classified gene: TH as Amber List (moderate evidence)
Cerebral Palsy v1.174 TH Zornitza Stark Gene: th has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1053 TEP1 Zornitza Stark Marked gene: TEP1 as ready
Mendeliome v1.1053 TEP1 Zornitza Stark Gene: tep1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1053 TEP1 Zornitza Stark Classified gene: TEP1 as Amber List (moderate evidence)
Mendeliome v1.1053 TEP1 Zornitza Stark Gene: tep1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1052 TEP1 Zornitza Stark gene: TEP1 was added
gene: TEP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TEP1 were set to 34543729
Phenotypes for gene: TEP1 were set to Cerebral palsy, MONDO:0006497, TEP1-related
Review for gene: TEP1 was set to AMBER
Added comment: Wang et al. screened a large cohort of more than 600 CP patients from China and found several variants in TEP1, 11 of which were LoF, while no LoF variant was found in the control cohort. These children all had spastic CP. Among these 11 children, 6 children had birth asphyxia and neonatal encephalopathy. Compared to the total group with birth asphyxia (71/667), 6 patients with TEP1 LOF mutations had a significantly greater risk of birth asphyxia. They confirmed TEP1 as a risk factor for CP by cytological and animal models.

Uncertain if these are risk alleles vs indicative of a monogenic disorder. Note LoF variants in gnomad. As this was a cohort study, inheritance of these variants is unknown.
Sources: Literature
Cerebral Palsy v1.173 TEP1 Zornitza Stark Phenotypes for gene: TEP1 were changed from to Cerebral palsy, MONDO:0006497, TEP1-related
Cerebral Palsy v1.172 TEP1 Zornitza Stark Classified gene: TEP1 as Amber List (moderate evidence)
Cerebral Palsy v1.172 TEP1 Zornitza Stark Gene: tep1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.171 TEP1 Zornitza Stark commented on gene: TEP1: Uncertain if these are risk alleles vs indicative of a monogenic disorder. Note LoF variants in gnomad. As this was a cohort study, inheritance of these variants is unknown.
Cerebral Palsy v1.171 TEP1 Zornitza Stark reviewed gene: TEP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral palsy, MONDO:0006497, TEP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.171 TEP1 Zornitza Stark Classified gene: TEP1 as Green List (high evidence)
Cerebral Palsy v1.171 TEP1 Zornitza Stark Gene: tep1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.170 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Cerebral Palsy v1.170 TANGO2 Zornitza Stark Gene: tango2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.170 TANGO2 Zornitza Stark Classified gene: TANGO2 as Amber List (moderate evidence)
Cerebral Palsy v1.170 TANGO2 Zornitza Stark Gene: tango2 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.169 TANGO2 Zornitza Stark reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 HEXB Sangavi Sivagnanasundram reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 17251047, 14722612, 35420740; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms (MIM#268800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.169 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Cerebral Palsy v1.169 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.169 SYNGAP1 Zornitza Stark Classified gene: SYNGAP1 as Green List (high evidence)
Cerebral Palsy v1.169 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.168 SYNE1 Zornitza Stark Marked gene: SYNE1 as ready
Cerebral Palsy v1.168 SYNE1 Zornitza Stark Gene: syne1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.168 SYNE1 Zornitza Stark Classified gene: SYNE1 as Amber List (moderate evidence)
Cerebral Palsy v1.168 SYNE1 Zornitza Stark Gene: syne1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.167 SUOX Zornitza Stark Marked gene: SUOX as ready
Cerebral Palsy v1.167 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Cerebral Palsy v1.167 SUOX Zornitza Stark Classified gene: SUOX as Green List (high evidence)
Cerebral Palsy v1.167 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Cerebral Palsy v1.166 STAMBP Zornitza Stark Marked gene: STAMBP as ready
Cerebral Palsy v1.166 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Cerebral Palsy v1.166 STAMBP Zornitza Stark Classified gene: STAMBP as Green List (high evidence)
Cerebral Palsy v1.166 STAMBP Zornitza Stark Gene: stambp has been classified as Green List (High Evidence).
Cerebral Palsy v1.165 ST3GAL5 Zornitza Stark Marked gene: ST3GAL5 as ready
Cerebral Palsy v1.165 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Cerebral Palsy v1.165 ST3GAL5 Zornitza Stark Classified gene: ST3GAL5 as Green List (high evidence)
Cerebral Palsy v1.165 ST3GAL5 Zornitza Stark Gene: st3gal5 has been classified as Green List (High Evidence).
Cerebral Palsy v1.164 SPTBN2 Zornitza Stark Marked gene: SPTBN2 as ready
Cerebral Palsy v1.164 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.164 SPTBN2 Zornitza Stark Classified gene: SPTBN2 as Green List (high evidence)
Cerebral Palsy v1.164 SPTBN2 Zornitza Stark Gene: sptbn2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.163 SPR Zornitza Stark Marked gene: SPR as ready
Cerebral Palsy v1.163 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Cerebral Palsy v1.163 SPR Zornitza Stark Classified gene: SPR as Green List (high evidence)
Cerebral Palsy v1.163 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Cerebral Palsy v1.162 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Cerebral Palsy v1.162 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Cerebral Palsy v1.162 SPATA5 Zornitza Stark Classified gene: SPATA5 as Green List (high evidence)
Cerebral Palsy v1.162 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Cerebral Palsy v1.161 SON Zornitza Stark Marked gene: SON as ready
Cerebral Palsy v1.161 SON Zornitza Stark Gene: son has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.161 SON Zornitza Stark Classified gene: SON as Amber List (moderate evidence)
Cerebral Palsy v1.161 SON Zornitza Stark Gene: son has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.160 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Cerebral Palsy v1.160 SNX14 Zornitza Stark Gene: snx14 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.160 SNX14 Zornitza Stark Classified gene: SNX14 as Amber List (moderate evidence)
Cerebral Palsy v1.160 SNX14 Zornitza Stark Gene: snx14 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.159 SMARCB1 Zornitza Stark Classified gene: SMARCB1 as Amber List (moderate evidence)
Cerebral Palsy v1.159 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.158 SLITRK2 Zornitza Stark Marked gene: SLITRK2 as ready
Cerebral Palsy v1.158 SLITRK2 Zornitza Stark Gene: slitrk2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.158 SLITRK2 Zornitza Stark Classified gene: SLITRK2 as Green List (high evidence)
Cerebral Palsy v1.158 SLITRK2 Zornitza Stark Gene: slitrk2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Cerebral Palsy v1.157 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Cerebral Palsy v1.156 SLC16A2 Zornitza Stark Marked gene: SLC16A2 as ready
Cerebral Palsy v1.156 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.156 SLC16A2 Zornitza Stark Classified gene: SLC16A2 as Green List (high evidence)
Cerebral Palsy v1.156 SLC16A2 Zornitza Stark Gene: slc16a2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.155 SLC13A5 Zornitza Stark Marked gene: SLC13A5 as ready
Cerebral Palsy v1.155 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.155 SLC13A5 Zornitza Stark Classified gene: SLC13A5 as Amber List (moderate evidence)
Cerebral Palsy v1.155 SLC13A5 Zornitza Stark Gene: slc13a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1051 Bryony Thompson removed gene:DUSP7 from the panel
Hereditary Neuropathy v0.205 GLA Sangavi Sivagnanasundram changed review comment from: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.
Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age.; to: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.
Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age.
Variants in GLA have been reported in individuals with neuropathy pain.
Hereditary Neuropathy v0.205 GLA Sangavi Sivagnanasundram reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19318041, 22497776; Phenotypes: Fabry Disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy v0.205 C19orf12 Sangavi Sivagnanasundram reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780; Phenotypes: Neurodegeneration with brain iron accumulation 4 (NBIA) (MONDO:0013674); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dystonia and Chorea v0.229 EIF4A2 Zornitza Stark Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455
Intellectual disability syndromic and non-syndromic v0.5310 EIF4A2 Zornitza Stark Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455
Genetic Epilepsy v0.1876 EIF4A2 Zornitza Stark Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455
Mendeliome v1.1050 EIF4A2 Zornitza Stark Phenotypes for gene: EIF4A2 were changed from Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related to Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455
Mendeliome v1.1049 TINF2 Sangavi Sivagnanasundram reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2023.100225; Phenotypes: Multiple Primary Melanomas (MPM); Mode of inheritance: Unknown
Cerebral Palsy v1.154 SHANK3 Zornitza Stark Publications for gene: SHANK3 were set to 17173049
Cerebral Palsy v1.153 SHANK3 Zornitza Stark Classified gene: SHANK3 as Amber List (moderate evidence)
Cerebral Palsy v1.153 SHANK3 Zornitza Stark Gene: shank3 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.152 SEPSECS Zornitza Stark Marked gene: SEPSECS as ready
Cerebral Palsy v1.152 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Cerebral Palsy v1.152 SEPSECS Zornitza Stark Classified gene: SEPSECS as Green List (high evidence)
Cerebral Palsy v1.152 SEPSECS Zornitza Stark Gene: sepsecs has been classified as Green List (High Evidence).
Cerebral Palsy v1.151 SATB2 Zornitza Stark Marked gene: SATB2 as ready
Cerebral Palsy v1.151 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.151 SATB2 Zornitza Stark Classified gene: SATB2 as Green List (high evidence)
Cerebral Palsy v1.151 SATB2 Zornitza Stark Gene: satb2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.150 SACS Zornitza Stark Marked gene: SACS as ready
Cerebral Palsy v1.150 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Cerebral Palsy v1.150 SACS Zornitza Stark Classified gene: SACS as Green List (high evidence)
Cerebral Palsy v1.150 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Cerebral Palsy v1.149 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Cerebral Palsy v1.149 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Cerebral Palsy v1.149 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.149 RARS2 Zornitza Stark Classified gene: RARS2 as Green List (high evidence)
Cerebral Palsy v1.149 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Cerebral Palsy v1.148 RAB3GAP1 Zornitza Stark Marked gene: RAB3GAP1 as ready
Cerebral Palsy v1.148 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.148 RAB3GAP1 Zornitza Stark Classified gene: RAB3GAP1 as Green List (high evidence)
Cerebral Palsy v1.148 RAB3GAP1 Zornitza Stark Gene: rab3gap1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.147 PTPN23 Zornitza Stark Marked gene: PTPN23 as ready
Cerebral Palsy v1.147 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.147 PTPN23 Zornitza Stark Classified gene: PTPN23 as Amber List (moderate evidence)
Cerebral Palsy v1.147 PTPN23 Zornitza Stark Gene: ptpn23 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.46 CLPB Zornitza Stark Marked gene: CLPB as ready
Bone Marrow Failure v1.46 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Bone Marrow Failure v1.46 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271; congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy
Bone Marrow Failure v1.45 CLPB Zornitza Stark Classified gene: CLPB as Green List (high evidence)
Bone Marrow Failure v1.45 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.4 Bryony Thompson HPO terms changed from Increased susceptibility to fractures, HP:0002659 to
Panel status changed from internal to public
Panel types changed to Melbourne Genomics; Royal Melbourne Hospital
Mendeliome v1.1049 LAMA3 Sangavi Sivagnanasundram changed review comment from: Zhou et al. (2023) - Two heterozygous nonsense variants identified in two individuals of the same family [p.Arg1126Ter and p.Gln1507Ter] that was shown to segregate in the family with reduced penetrance.

The authors hypothesize that function of laminin 𝛼3 is altered as it changes its ability to form heterotrimeric laminins.

In vivo functional study using CRISPR/Cas-9 mediated LAMA3 knockout mice. Results of the functional assay showed development of tricuspid valve and right ventricle abnormalities in the presence of a homozygous LoF variant in LAMA3.; to: Novel gene-disease association
Zhou et al. (2023) - Two heterozygous nonsense variants identified in two individuals of the same family [p.Arg1126Ter and p.Gln1507Ter] that was shown to segregate in the family with reduced penetrance.

The authors hypothesize that function of laminin 𝛼3 is altered as it changes its ability to form heterotrimeric laminins.

In vivo functional study using CRISPR/Cas-9 mediated LAMA3 knockout mice. Results of the functional assay showed development of tricuspid valve and right ventricle abnormalities in the presence of a homozygous LoF variant in LAMA3.
Mendeliome v1.1049 LAMA3 Sangavi Sivagnanasundram reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2023.100227; Phenotypes: Ebstein’s anomaly (MIM#224700); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Transplant Co-Morbidity v0.3 SUFU Bryony Thompson Classified gene: SUFU as Green List (high evidence)
Transplant Co-Morbidity v0.3 SUFU Bryony Thompson Gene: sufu has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.2 PTCH1 Bryony Thompson Classified gene: PTCH1 as Green List (high evidence)
Transplant Co-Morbidity v0.2 PTCH1 Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.1 FAM46A Bryony Thompson Classified gene: FAM46A as Green List (high evidence)
Transplant Co-Morbidity v0.1 FAM46A Bryony Thompson Gene: fam46a has been classified as Green List (High Evidence).
Transplant Co-Morbidity v0.0 XYLT2 Bryony Thompson gene: XYLT2 was added
gene: XYLT2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875; 26027496
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM#605822
Transplant Co-Morbidity v0.0 WT1 Bryony Thompson gene: WT1 was added
gene: WT1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WT1 were set to 35802134
Phenotypes for gene: WT1 were set to Wilms' tumor MIM#194070
Transplant Co-Morbidity v0.0 WNT1 Bryony Thompson gene: WNT1 was added
gene: WNT1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT1 were set to 23499310; 23499309; 23656646; 26671912
Phenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, MIM# 615220
Transplant Co-Morbidity v0.0 WIPF1 Bryony Thompson gene: WIPF1 was added
gene: WIPF1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 11869681; 14757742; 9405671; 27742395; 22231303
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Transplant Co-Morbidity v0.0 WFS1 Bryony Thompson gene: WFS1 was added
gene: WFS1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27217304; 27185633
Phenotypes for gene: WFS1 were set to diabetes insipidus or optic atrophy; ?Cataract 41,116400; Wolfram syndrome, 222300; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296
Transplant Co-Morbidity v0.0 WAS Bryony Thompson gene: WAS was added
gene: WAS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Transplant Co-Morbidity v0.0 VWF Bryony Thompson gene: VWF was added
gene: VWF was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: VWF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: VWF were set to von Willebrand disease, type 1, MIM#193400; von Willibrand disease, type 3, MIM#277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554
Transplant Co-Morbidity v0.0 VPS33B Bryony Thompson gene: VPS33B was added
gene: VPS33B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 26399659; 16896922
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Transplant Co-Morbidity v0.0 VKORC1 Bryony Thompson gene: VKORC1 was added
gene: VKORC1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VKORC1 were set to 14765194
Phenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473
Transplant Co-Morbidity v0.0 VIPAS39 Bryony Thompson gene: VIPAS39 was added
gene: VIPAS39 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Transplant Co-Morbidity v0.0 VHL Bryony Thompson gene: VHL was added
gene: VHL was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome , MIM#193300
Transplant Co-Morbidity v0.0 VCL Bryony Thompson gene: VCL was added
gene: VCL was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCL were set to 11815424; 26458567; 17785437; 31983221; 32516855; 26406308; 24062880
Phenotypes for gene: VCL were set to Cardiomyopathy, dilated, 1W, MIM# 611407
Transplant Co-Morbidity v0.0 UQCRFS1 Bryony Thompson gene: UQCRFS1 was added
gene: UQCRFS1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRFS1 were set to 31883641
Phenotypes for gene: UQCRFS1 were set to fetal bradycardia; Mitochondrial Complex III deficiency; hypertrophic cardiomyopathy; lactic acidosis; alopecia totalis
Transplant Co-Morbidity v0.0 TULP3 Bryony Thompson gene: TULP3 was added
gene: TULP3 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to PMID: 35397207
Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Transplant Co-Morbidity v0.0 TUBB1 Bryony Thompson gene: TUBB1 was added
gene: TUBB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TUBB1 were set to 31565851; 29333906; 32757236; 18849486
Phenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112
Transplant Co-Morbidity v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTR were set to 28475415; 35802134; 31554435
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related MIM#105210
Transplant Co-Morbidity v0.0 TTN Bryony Thompson gene: TTN was added
gene: TTN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TTN were set to 25589632; 28045975; 22335739; 33947203; 34012068
Phenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM#604145
Transplant Co-Morbidity v0.0 TSC2 Bryony Thompson gene: TSC2 was added
gene: TSC2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2, MIM# 613254
Transplant Co-Morbidity v0.0 TSC1 Bryony Thompson gene: TSC1 was added
gene: TSC1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1, MIM# 191100
Transplant Co-Morbidity v0.0 TRPV6 Bryony Thompson gene: TRPV6 was added
gene: TRPV6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, MIM# 618188
Transplant Co-Morbidity v0.0 TRIM63 Bryony Thompson gene: TRIM63 was added
gene: TRIM63 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM63 were set to 32451364; 30681346
Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy, MONDO:0005045
Transplant Co-Morbidity v0.0 TRDN Bryony Thompson gene: TRDN was added
gene: TRDN was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRDN were set to 22422768; 31983240; 30649896; 25922419
Phenotypes for gene: TRDN were set to Long QT syndrome; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Transplant Co-Morbidity v0.0 TPM4 Bryony Thompson gene: TPM4 was added
gene: TPM4 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM4 were set to 28134622; 21153663; 31249973
Phenotypes for gene: TPM4 were set to Macrothrombocytopenia
Transplant Co-Morbidity v0.0 TPM1 Bryony Thompson gene: TPM1 was added
gene: TPM1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM1 were set to 11273725; 30681346; 15249230; 31270709; 21483645; 31983221; 23147248; 20117437; 28600229; 20215591
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Cardiomyopathy, dilated, 1Y, MIM# 611878
Transplant Co-Morbidity v0.0 TP53 Bryony Thompson gene: TP53 was added
gene: TP53 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Li-Fraumeni syndrome, MIM# 151623
Transplant Co-Morbidity v0.0 TNXB Bryony Thompson gene: TNXB was added
gene: TNXB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408
Transplant Co-Morbidity v0.0 TNNT2 Bryony Thompson gene: TNNT2 was added
gene: TNNT2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNT2 were set to 20031601; 33947203; 17556660, 30681346; 20978592; 15542288; 11106718
Phenotypes for gene: TNNT2 were set to Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, dilated, 1D, MIM# 601494; Left ventricular noncompaction 6, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195
Transplant Co-Morbidity v0.0 TNNI3K Bryony Thompson gene: TNNI3K was added
gene: TNNI3K was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 29355681; 30010057
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Transplant Co-Morbidity v0.0 TNNI3 Bryony Thompson gene: TNNI3 was added
gene: TNNI3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNNI3 were set to 2226790; 19590045; 30681346; 31568572; 22464770; 21846512; 15607392; 20215591
Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, hypertrophic, 7 , MIM#613690; Cardiomyopathy, familial restrictive, MIM#1 115210
Mode of pathogenicity for gene: TNNI3 was set to Other
Transplant Co-Morbidity v0.0 TNNC1 Bryony Thompson gene: TNNC1 was added
gene: TNNC1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNC1 were set to 17977476; 33947203; 31983221; 19808376
Phenotypes for gene: TNNC1 were set to MONDO:0012745; Cardiomyopathy, dilated, 1Z, MIM# 611879
Transplant Co-Morbidity v0.0 TMEM43 Bryony Thompson gene: TMEM43 was added
gene: TMEM43 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM43 were set to 22725725; 21214875; 29980933; 24598986; 18313022; 23812740; 33831308
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Transplant Co-Morbidity v0.0 TMEM38B Bryony Thompson gene: TMEM38B was added
gene: TMEM38B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM38B were set to 23054245; 28323974
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV , MIM#615066
Transplant Co-Morbidity v0.0 TMEM127 Bryony Thompson gene: TMEM127 was added
gene: TMEM127 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM127 were set to 34012068
Phenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to} 171300
Transplant Co-Morbidity v0.0 THPO Bryony Thompson gene: THPO was added
gene: THPO was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THPO were set to 10583217; 9425899
Phenotypes for gene: THPO were set to Thrombocythemia 1, MIM# 187950
Transplant Co-Morbidity v0.0 THBD Bryony Thompson gene: THBD was added
gene: THBD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THBD were set to 28267383; 25564403; 10627464; 32935436; 25049278; 32634856; 27436851
Phenotypes for gene: THBD were set to Bleeding disorder
Transplant Co-Morbidity v0.0 TGFBR2 Bryony Thompson gene: TGFBR2 was added
gene: TGFBR2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2, MIM# 610168
Transplant Co-Morbidity v0.0 TGFBR1 Bryony Thompson gene: TGFBR1 was added
gene: TGFBR1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1, MIM# 609192
Transplant Co-Morbidity v0.0 TGFB3 Bryony Thompson gene: TGFB3 was added
gene: TGFB3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5, MIM# 615582
Transplant Co-Morbidity v0.0 TGFB2 Bryony Thompson gene: TGFB2 was added
gene: TGFB2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, MIM# 614816
Transplant Co-Morbidity v0.0 TECRL Bryony Thompson gene: TECRL was added
gene: TECRL was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECRL were set to 33367594; 17666061; 30790670; 27861123
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Transplant Co-Morbidity v0.0 TBXAS1 Bryony Thompson gene: TBXAS1 was added
gene: TBXAS1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to 18264100
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095
Transplant Co-Morbidity v0.0 TBX5 Bryony Thompson gene: TBX5 was added
gene: TBX5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX5 were set to 25725155; 32236096; 32449309; 25963046
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Transplant Co-Morbidity v0.0 SUFU Bryony Thompson gene: SUFU was added
gene: SUFU was added to Transplant Co-Morbidity Superpanel. Sources: Expert List
Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SUFU were set to SUFU-related neurodevelopmental disorder
Transplant Co-Morbidity v0.0 STIM1 Bryony Thompson gene: STIM1 was added
gene: STIM1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STIM1 were set to Stormorken syndrome, MIM# 185070
Transplant Co-Morbidity v0.0 SRC Bryony Thompson gene: SRC was added
gene: SRC was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRC were set to 31204551; 26936507
Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937
Transplant Co-Morbidity v0.0 SPARC Bryony Thompson gene: SPARC was added
gene: SPARC was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 34462290; 26027498
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, MIM# 616507
Transplant Co-Morbidity v0.0 SP7 Bryony Thompson gene: SP7 was added
gene: SP7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SP7 were set to 32413570; 29382611; 34091789; 20579626; 35367406
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
Transplant Co-Morbidity v0.0 SMAD4 Bryony Thompson gene: SMAD4 was added
gene: SMAD4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 30809044
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm
Transplant Co-Morbidity v0.0 SMAD3 Bryony Thompson gene: SMAD3 was added
gene: SMAD3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3, MIM# 613795
Transplant Co-Morbidity v0.0 SLFN14 Bryony Thompson gene: SLFN14 was added
gene: SLFN14 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLFN14 were set to 26280575; 26769223
Phenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913
Transplant Co-Morbidity v0.0 SLC40A1 Bryony Thompson gene: SLC40A1 was added
gene: SLC40A1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069
Transplant Co-Morbidity v0.0 SLC37A4 Bryony Thompson gene: SLC37A4 was added
gene: SLC37A4 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC37A4 were set to 33964207
Phenotypes for gene: SLC37A4 were set to liver dysfunction; Congenital disorder of glycosylation; coagulation deficiency
Transplant Co-Morbidity v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, MIM# 208050
Transplant Co-Morbidity v0.0 SKI Bryony Thompson gene: SKI was added
gene: SKI was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome, MIM# 182212
Transplant Co-Morbidity v0.0 SGMS2 Bryony Thompson gene: SGMS2 was added
gene: SGMS2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 32028018; 30779713
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Transplant Co-Morbidity v0.0 SERPINH1 Bryony Thompson gene: SERPINH1 was added
gene: SERPINH1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta
Transplant Co-Morbidity v0.0 SERPINF2 Bryony Thompson gene: SERPINF2 was added
gene: SERPINF2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINF2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SERPINF2 were set to 10583218; 31441040; 29656168; 31282989; 2572590
Phenotypes for gene: SERPINF2 were set to Alpha-2-plasmin inhibitor deficiency, MIM# 262850
Transplant Co-Morbidity v0.0 SERPINF1 Bryony Thompson gene: SERPINF1 was added
gene: SERPINF1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINF1 were set to 28689307
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, MIM# 613982
Transplant Co-Morbidity v0.0 SERPINE1 Bryony Thompson gene: SERPINE1 was added
gene: SERPINE1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SERPINE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SERPINE1 were set to 15650551; 9207454
Phenotypes for gene: SERPINE1 were set to Plasminogen activator inhibitor-1 deficiency, MIM# 613329
Transplant Co-Morbidity v0.0 SEC24D Bryony Thompson gene: SEC24D was added
gene: SEC24D was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 26467156; 27942778; 30462379; 25683121
Phenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294
Transplant Co-Morbidity v0.0 SDHD Bryony Thompson gene: SDHD was added
gene: SDHD was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Pheochromocytoma, MIM# 171300; Paragangliomas 1, with or without deafness, MIM# 168000
Transplant Co-Morbidity v0.0 SDHC Bryony Thompson gene: SDHC was added
gene: SDHC was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Paragangliomas 3, MIM# 605373
Transplant Co-Morbidity v0.0 SDHB Bryony Thompson gene: SDHB was added
gene: SDHB was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Paragangliomas 4, MIM# 115310
Transplant Co-Morbidity v0.0 SDHAF2 Bryony Thompson gene: SDHAF2 was added
gene: SDHAF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Paragangliomas 2, MIM# 601650
Transplant Co-Morbidity v0.0 SCN5A Bryony Thompson gene: SCN5A was added
gene: SCN5A was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 21824921; 22766342; 22675453; 31520233; 29506689; 19808398; 15671429; 21596231; 29871609; 17512504; 31514951; 22999724; 31930659; 20458009; 30218094
Phenotypes for gene: SCN5A were set to Heart block, nonprogressive; Atrial fibrillation, familial, 10; Long QT syndrome 3; Ventricular fibrillation, familial, 1; Cardiomyopathy, dilated, 1E, MIM# 601154; Sick sinus syndrome 1; Heart block, progressive, type IA; Brugada syndrome 1; {Sudden infant death syndrome, susceptibility to}
Transplant Co-Morbidity v0.0 RYR2 Bryony Thompson gene: RYR2 was added
gene: RYR2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2 , MIM#600996
Transplant Co-Morbidity v0.0 RYR1 Bryony Thompson gene: RYR1 was added
gene: RYR1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, MIM#145600
Transplant Co-Morbidity v0.0 RUNX1 Bryony Thompson gene: RUNX1 was added
gene: RUNX1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RUNX1 were set to 10508512
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Transplant Co-Morbidity v0.0 RET Bryony Thompson gene: RET was added
gene: RET was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400
Transplant Co-Morbidity v0.0 RBM8A Bryony Thompson gene: RBM8A was added
gene: RBM8A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
Transplant Co-Morbidity v0.0 RBM20 Bryony Thompson gene: RBM20 was added
gene: RBM20 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBM20 were set to 33947203; 30871351; 35802134
Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD
Transplant Co-Morbidity v0.0 RB1 Bryony Thompson gene: RB1 was added
gene: RB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380
Transplant Co-Morbidity v0.0 RASGRP2 Bryony Thompson gene: RASGRP2 was added
gene: RASGRP2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 32041177; 24958846; 30849270; 32609603; 31724816
Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18, MIM# 615888
Transplant Co-Morbidity v0.0 PTPN11 Bryony Thompson gene: PTPN11 was added
gene: PTPN11 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950
Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Transplant Co-Morbidity v0.0 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350
Transplant Co-Morbidity v0.0 PTCH1 Bryony Thompson gene: PTCH1 was added
gene: PTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert List
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7, MIM# 610828
Transplant Co-Morbidity v0.0 PRKG1 Bryony Thompson gene: PRKG1 was added
gene: PRKG1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM# 615436
Transplant Co-Morbidity v0.0 PRKAG2 Bryony Thompson gene: PRKAG2 was added
gene: PRKAG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKAG2 were set to 30681346
Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6, MIM# 600858
Transplant Co-Morbidity v0.0 PRDM16 Bryony Thompson gene: PRDM16 was added
gene: PRDM16 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to 34540771; 34935411; 29367541; 24387995; 32183154; 33500567; 33082984; 34350506; 31965688; 29447731; PMID: 23768516; 30847666
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction 8 MIM#615373; Cardiomyopathy, dilated, 1LL MIM#615373
Transplant Co-Morbidity v0.0 PPIB Bryony Thompson gene: PPIB was added
gene: PPIB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIB were set to 32392875; 19781681
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440
Transplant Co-Morbidity v0.0 PPARG Bryony Thompson gene: PPARG was added
gene: PPARG was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to FPLD3; Lipodystrophy, familial partial, type 3; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Insulin resistance, severe, digenic; Obesity, severe, 601665; Carotid intimal medial thickness 1, 609338; Lipodystrophy, familial partial, type 3, 604367; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3 604367; [Obesity, resistance to]; Insulin resistance, severe, digenic 604367; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367
Transplant Co-Morbidity v0.0 PMS2 Bryony Thompson gene: PMS2 was added
gene: PMS2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMS2 were set to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337
Transplant Co-Morbidity v0.0 PLS3 Bryony Thompson gene: PLS3 was added
gene: PLS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis
Transplant Co-Morbidity v0.0 PLOD2 Bryony Thompson gene: PLOD2 was added
gene: PLOD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD2 were set to 12881513; 22689593; 15523624
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, MIM# 609220
Transplant Co-Morbidity v0.0 PLN Bryony Thompson gene: PLN was added
gene: PLN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLN were set to 33947203; 30681346
Phenotypes for gene: PLN were set to Cardiomyopathy, hypertrophic, 18 (MIM #613874); Cardiomyopathy, dilated, 1P, MIM# 609909
Transplant Co-Morbidity v0.0 PLAU Bryony Thompson gene: PLAU was added
gene: PLAU was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLAU were set to 20007542
Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709
Transplant Co-Morbidity v0.0 PLA2G4A Bryony Thompson gene: PLA2G4A was added
gene: PLA2G4A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLA2G4A were set to 23268370; 25102815; 18451993
Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372
Transplant Co-Morbidity v0.0 PKP2 Bryony Thompson gene: PKP2 was added
gene: PKP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 33831308
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Transplant Co-Morbidity v0.0 PCSK9 Bryony Thompson gene: PCSK9 was added
gene: PCSK9 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PCSK9 were set to Hypercholesterolemia, familial, 3, MIM# 603776
Transplant Co-Morbidity v0.0 PAX6 Bryony Thompson gene: PAX6 was added
gene: PAX6 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX6 were set to diabetes; Aniridia 106210
Transplant Co-Morbidity v0.0 PALB2 Bryony Thompson gene: PALB2 was added
gene: PALB2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PALB2 were set to 34012068
Phenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480
Transplant Co-Morbidity v0.0 P4HB Bryony Thompson gene: P4HB was added
gene: P4HB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: P4HB were set to 25683117; 30063094; 29384951; 29263160
Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240
Transplant Co-Morbidity v0.0 P3H1 Bryony Thompson gene: P3H1 was added
gene: P3H1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P3H1 were set to 18566967; 17277775
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915)
Transplant Co-Morbidity v0.0 P2RY12 Bryony Thompson gene: P2RY12 was added
gene: P2RY12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: P2RY12 were set to 29117459; 11196645; 12578987; 19237732
Phenotypes for gene: P2RY12 were set to MONDO:0012354; Bleeding disorder, platelet-type, 8, MIM# 609821
Transplant Co-Morbidity v0.0 NOTCH2 Bryony Thompson gene: NOTCH2 was added
gene: NOTCH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2 were set to 21378989; 21378985; 16773578
Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome (MIM#102500)
Transplant Co-Morbidity v0.0 NOTCH1 Bryony Thompson gene: NOTCH1 was added
gene: NOTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH1 were set to 26820064; 25963545; 16729972; 16025100
Phenotypes for gene: NOTCH1 were set to Aortic aneurysm
Transplant Co-Morbidity v0.0 NF2 Bryony Thompson gene: NF2 was added
gene: NF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF2 were set to Neurofibromatosis, type 2, MIM# 101000
Transplant Co-Morbidity v0.0 NEXN Bryony Thompson gene: NEXN was added
gene: NEXN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEXN were set to 28416588; 27532257; 19881492; 24503780; 29540472; 25163546; 26659360
Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC, MIM# 613122
Transplant Co-Morbidity v0.0 NEUROD1 Bryony Thompson gene: NEUROD1 was added
gene: NEUROD1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 10545951; 26773576; 26669242; 20573748
Phenotypes for gene: NEUROD1 were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; Maturity-Onset Diabetes Of The Young; Permanent neonatal diabetes and cerebellar agenesis; MODY6; Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-onset diabetes of the young 6, 606394
Transplant Co-Morbidity v0.0 NBEAL2 Bryony Thompson gene: NBEAL2 was added
gene: NBEAL2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBEAL2 were set to 21765412; 21765411; 21765413
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
Transplant Co-Morbidity v0.0 NBAS Bryony Thompson gene: NBAS was added
gene: NBAS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 29955634; 27789416
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; immunodeficiency; short stature; bone fragility; developmental delay; autism
Transplant Co-Morbidity v0.0 MYLK Bryony Thompson gene: MYLK was added
gene: MYLK was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7, MIM# 613780
Transplant Co-Morbidity v0.0 MYL3 Bryony Thompson gene: MYL3 was added
gene: MYL3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL3 were set to 30681346
Phenotypes for gene: MYL3 were set to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Transplant Co-Morbidity v0.0 MYL2 Bryony Thompson gene: MYL2 was added
gene: MYL2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYL2 were set to 30681346
Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10, MIM# 608758
Transplant Co-Morbidity v0.0 MYH9 Bryony Thompson gene: MYH9 was added
gene: MYH9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Transplant Co-Morbidity v0.0 MYH7 Bryony Thompson gene: MYH7 was added
gene: MYH7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH7 were set to 30874888; 25935763; 30384889; 30681346; 24119082; 21483645; 27000522; 24558114; 21846512; 33947203; 31179125; 27965028
Phenotypes for gene: MYH7 were set to MONDO:0013262; Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600
Transplant Co-Morbidity v0.0 MYH11 Bryony Thompson gene: MYH11 was added
gene: MYH11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, MIM# 132900
Transplant Co-Morbidity v0.0 MYBPC3 Bryony Thompson gene: MYBPC3 was added
gene: MYBPC3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 30681346; 20378854
Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM, MIM# 615396; Left ventricular noncompaction 10, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197
Transplant Co-Morbidity v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 30720493; 27604308; 8533758
Phenotypes for gene: MTTP were set to Inherited hypolipidaemias; Abetalipoproteinemia MIM#200100
Transplant Co-Morbidity v0.0 MSH6 Bryony Thompson gene: MSH6 was added
gene: MSH6 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350
Transplant Co-Morbidity v0.0 MSH2 Bryony Thompson gene: MSH2 was added
gene: MSH2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH2 were set to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435
Transplant Co-Morbidity v0.0 MPL Bryony Thompson gene: MPL was added
gene: MPL was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 11133753
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498
Transplant Co-Morbidity v0.0 MPIG6B Bryony Thompson gene: MPIG6B was added
gene: MPIG6B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to 29898956; 31276734; 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Transplant Co-Morbidity v0.0 MPI Bryony Thompson gene: MPI was added
gene: MPI was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 32266963; 10980531; 12414827; 33098580; 32905087; 30242110; 33204592; 9585601
Phenotypes for gene: MPI were set to MPI-CDG MONDO:0011257; Congenital disorder of glycosylation, type Ib, MIM# 602579
Transplant Co-Morbidity v0.0 MLH1 Bryony Thompson gene: MLH1 was added
gene: MLH1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MLH1 were set to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310
Transplant Co-Morbidity v0.0 MESD Bryony Thompson gene: MESD was added
gene: MESD was added to Transplant Co-Morbidity Superpanel. Sources: Other,Expert Review Green
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Transplant Co-Morbidity v0.0 MEN1 Bryony Thompson gene: MEN1 was added
gene: MEN1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1, MIM# 131100
Transplant Co-Morbidity v0.0 MED12 Bryony Thompson gene: MED12 was added
gene: MED12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, MIM# 309520
Transplant Co-Morbidity v0.0 MECOM Bryony Thompson gene: MECOM was added
gene: MECOM was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738
Transplant Co-Morbidity v0.0 MCFD2 Bryony Thompson gene: MCFD2 was added
gene: MCFD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCFD2 were set to 16304051; 18391077; 12717434
Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331
Transplant Co-Morbidity v0.0 MAX Bryony Thompson gene: MAX was added
gene: MAX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 34012068
Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to} 171300
Transplant Co-Morbidity v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM# 214500
Transplant Co-Morbidity v0.0 LRP5 Bryony Thompson gene: LRP5 was added
gene: LRP5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant 1, MIM# 607634
Transplant Co-Morbidity v0.0 LPL Bryony Thompson gene: LPL was added
gene: LPL was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial
Transplant Co-Morbidity v0.0 LOX Bryony Thompson gene: LOX was added
gene: LOX was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LOX were set to 30675029; 30071989; 26838787
Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM# 617168
Transplant Co-Morbidity v0.0 LMNA Bryony Thompson gene: LMNA was added
gene: LMNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 33947203
Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200
Transplant Co-Morbidity v0.0 LMF1 Bryony Thompson gene: LMF1 was added
gene: LMF1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMF1 were set to Combined lipase deficiency
Transplant Co-Morbidity v0.0 LMAN1 Bryony Thompson gene: LMAN1 was added
gene: LMAN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMAN1 were set to 16304051; 9546392
Phenotypes for gene: LMAN1 were set to MONDO:0009206; Combined factor V and VIII deficiency, MIM# 227300
Transplant Co-Morbidity v0.0 LIPC Bryony Thompson gene: LIPC was added
gene: LIPC was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LIPC were set to 1671786; 12777476; 23219720; 26423094; 1883393; 22464213
Phenotypes for gene: LIPC were set to Inherited mixed hyperlipidaemias; Hepatic lipase deficiency MIM#614025; hyperalphalipoproteinemia
Transplant Co-Morbidity v0.0 LIPA Bryony Thompson gene: LIPA was added
gene: LIPA was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease
Transplant Co-Morbidity v0.0 LDLRAP1 Bryony Thompson gene: LDLRAP1 was added
gene: LDLRAP1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDLRAP1 were set to 4351242
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, 4, MIM# 603813
Transplant Co-Morbidity v0.0 LDLR Bryony Thompson gene: LDLR was added
gene: LDLR was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to Hypercholesterolemia, familial, 1, MIM# 143890
Transplant Co-Morbidity v0.0 LCAT Bryony Thompson gene: LCAT was added
gene: LCAT was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 30720493; 6624548
Phenotypes for gene: LCAT were set to Disorders of high density lipoprotein metabolism; Norum disease MIM#245900; Fish-eye disease MIM#136120
Transplant Co-Morbidity v0.0 LAMP2 Bryony Thompson gene: LAMP2 was added
gene: LAMP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: LAMP2 were set to 25228319; 27165304; 30681346
Phenotypes for gene: LAMP2 were set to Danon disease, MIM#300257
Transplant Co-Morbidity v0.0 KLHL24 Bryony Thompson gene: KLHL24 was added
gene: KLHL24 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 27798626; 30715372; 27889062
Phenotypes for gene: KLHL24 were set to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236
Transplant Co-Morbidity v0.0 KDSR Bryony Thompson gene: KDSR was added
gene: KDSR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDSR were set to 28774589; 30467204
Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia
Transplant Co-Morbidity v0.0 KDELR2 Bryony Thompson gene: KDELR2 was added
gene: KDELR2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; Bowing of the legs; Osteogenesis imperfecta 21, MIM# 619131; joint hypermobility; Bowing of the arms; Scoliosis
Transplant Co-Morbidity v0.0 KCNQ1 Bryony Thompson gene: KCNQ1 was added
gene: KCNQ1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KCNQ1 were set to 20301308; 34557911
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, MIM# 192500; Long QT syndrome 1, 192500; Atrial fibrillation, familial, 3 607554; Short QT syndrome 2 609621
Transplant Co-Morbidity v0.0 KCNJ2 Bryony Thompson gene: KCNJ2 was added
gene: KCNJ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ2 were set to 31983240; 34557911
Phenotypes for gene: KCNJ2 were set to Short QT syndrome; long QT syndrome; Andersen-Tawil syndrome
Transplant Co-Morbidity v0.0 KCNJ11 Bryony Thompson gene: KCNJ11 was added
gene: KCNJ11 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ11 were set to Diabetes mellitus, trans; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Transient Neonatal diabetes mellitus (Dominant); {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Diabetes, permanent neonatal, 606176; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Transient Neonatal, 3; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Transient Neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2, 601820
Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Transplant Co-Morbidity v0.0 KCNH2 Bryony Thompson gene: KCNH2 was added
gene: KCNH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to 31983240
Phenotypes for gene: KCNH2 were set to Long QT syndrome 2, MIM# 613688; Short QT syndrome
Transplant Co-Morbidity v0.0 JUP Bryony Thompson gene: JUP was added
gene: JUP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: JUP were set to 17924338; 33831308; 16722579
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214
Transplant Co-Morbidity v0.0 ITGB3 Bryony Thompson gene: ITGB3 was added
gene: ITGB3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITGB3 were set to 19336737; 20081061; 18065693; 23253071
Phenotypes for gene: ITGB3 were set to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552
Transplant Co-Morbidity v0.0 ITGA2B Bryony Thompson gene: ITGA2B was added
gene: ITGA2B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ITGA2B were set to 21454453; 8282784; 1638023; 16463284
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800; MONDO:000855; Bleeding disorder, platelet-type, 16, MIM# 187800
Transplant Co-Morbidity v0.0 INSR Bryony Thompson gene: INSR was added
gene: INSR was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: INSR were set to 8288049
Phenotypes for gene: INSR were set to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; OMIM 610549; Rabson-Mendenhall syndrome, 262190; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Leprechaunism, 246200; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
Transplant Co-Morbidity v0.0 INS Bryony Thompson gene: INS was added
gene: INS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Permanent Neonatal diabetes mellitus; Maturity Onset Diabetes of the Young; MODY10
Transplant Co-Morbidity v0.0 IKZF5 Bryony Thompson gene: IKZF5 was added
gene: IKZF5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF5 were set to 31217188
Phenotypes for gene: IKZF5 were set to Thrombocytopaenia 7, MIM#619130
Transplant Co-Morbidity v0.0 IFITM5 Bryony Thompson gene: IFITM5 was added
gene: IFITM5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFITM5 were set to 22863195; 22863190; 32383316; 24519609
Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta type V, MIM#610967
Mode of pathogenicity for gene: IFITM5 was set to Other
Transplant Co-Morbidity v0.0 HRG Bryony Thompson gene: HRG was added
gene: HRG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: HRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRG were set to 11057869; 8236132; 29108964
Phenotypes for gene: HRG were set to Thrombophilia 11 due to HRG deficiency, MIM# 613116
Transplant Co-Morbidity v0.0 HPS6 Bryony Thompson gene: HPS6 was added
gene: HPS6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS6 were set to 12548288; 19843503; 17041891
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Transplant Co-Morbidity v0.0 HPS5 Bryony Thompson gene: HPS5 was added
gene: HPS5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS5 were set to 28296950; 32725903
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5 (MIM#614074)
Transplant Co-Morbidity v0.0 HPS4 Bryony Thompson gene: HPS4 was added
gene: HPS4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS4 were set to 12664304; 11836498
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Transplant Co-Morbidity v0.0 HPS3 Bryony Thompson gene: HPS3 was added
gene: HPS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS3 were set to 30990103; 11455388; 31621111; 31880485
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Transplant Co-Morbidity v0.0 HPS1 Bryony Thompson gene: HPS1 was added
gene: HPS1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 9497254
Phenotypes for gene: HPS1 were set to MONDO:0008748; Hermansky-Pudlak syndrome 1, MIM# 203300
Transplant Co-Morbidity v0.0 HNF4A Bryony Thompson gene: HNF4A was added
gene: HNF4A was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 28242437
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1
Transplant Co-Morbidity v0.0 HNF1B Bryony Thompson gene: HNF1B was added
gene: HNF1B was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNF1B were set to Transient neonatal diabetes; RCAD; RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome
Transplant Co-Morbidity v0.0 HNF1A Bryony Thompson gene: HNF1A was added
gene: HNF1A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1A were set to 34012068
Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496
Transplant Co-Morbidity v0.0 HFE Bryony Thompson gene: HFE was added
gene: HFE was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200
Transplant Co-Morbidity v0.0 HCN4 Bryony Thompson gene: HCN4 was added
gene: HCN4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCN4 were set to 15123648; 16407510; 12750403; 25145518; 17646576
Phenotypes for gene: HCN4 were set to Sick sinus syndrome 2, MIM# 163800
Transplant Co-Morbidity v0.0 GPIHBP1 Bryony Thompson gene: GPIHBP1 was added
gene: GPIHBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Royal Melbourne Hospital,Expert list
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID
Transplant Co-Morbidity v0.0 GP9 Bryony Thompson gene: GP9 was added
gene: GP9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP9 were set to 32030720; 8049428; 33553065; 31484196
Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C, MIM# 231200
Transplant Co-Morbidity v0.0 GP6 Bryony Thompson gene: GP6 was added
gene: GP6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP6 were set to 19549989; 23815599; 19552682
Phenotypes for gene: GP6 were set to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623
Transplant Co-Morbidity v0.0 GP1BB Bryony Thompson gene: GP1BB was added
gene: GP1BB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP1BB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GP1BB were set to 33813986; 33657022; 11222377; 8703016; 10887115; 9116284; 33216977; 1730088; 31997307
Phenotypes for gene: GP1BB were set to Macrothrombocytopaenia; Bernard-Soulier syndrome, type B, MIM# 231200
Transplant Co-Morbidity v0.0 GP1BA Bryony Thompson gene: GP1BA was added
gene: GP1BA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GP1BA were set to 24934643
Phenotypes for gene: GP1BA were set to MONDO:0007930; MONDO:0008332; Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)
Transplant Co-Morbidity v0.0 GORAB Bryony Thompson gene: GORAB was added
gene: GORAB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070
Transplant Co-Morbidity v0.0 GNE Bryony Thompson gene: GNE was added
gene: GNE was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNE were set to 30171045; 25257349; 32505938; 29941673
Phenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy
Transplant Co-Morbidity v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: GLA were set to 30681346
Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500)
Transplant Co-Morbidity v0.0 GGCX Bryony Thompson gene: GGCX was added
gene: GGCX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGCX were set to 32785662; 26758921; 30531603
Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450
Transplant Co-Morbidity v0.0 GFI1B Bryony Thompson gene: GFI1B was added
gene: GFI1B was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GFI1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GFI1B were set to 24325358; 28041820; 11825872; 23927492
Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17 MIM#187900
Transplant Co-Morbidity v0.0 GCK Bryony Thompson gene: GCK was added
gene: GCK was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCK were set to 19790256
Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)
Transplant Co-Morbidity v0.0 GBA Bryony Thompson gene: GBA was added
gene: GBA was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease
Transplant Co-Morbidity v0.0 GATA6 Bryony Thompson gene: GATA6 was added
gene: GATA6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001; Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474
Transplant Co-Morbidity v0.0 GATA4 Bryony Thompson gene: GATA4 was added
gene: GATA4 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,UKGTN,Expert Review Green
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA4 were set to 20854389; 27810688; 24696446
Transplant Co-Morbidity v0.0 GATA1 Bryony Thompson gene: GATA1 was added
gene: GATA1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367
Transplant Co-Morbidity v0.0 G6PD Bryony Thompson gene: G6PD was added
gene: G6PD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green
Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: G6PD were set to Haemolytic anaemia
Transplant Co-Morbidity v0.0 FLNC Bryony Thompson gene: FLNC was added
gene: FLNC was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLNC were set to 28356264; 30411535; 31924696
Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26; Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy
Transplant Co-Morbidity v0.0 FLNA Bryony Thompson gene: FLNA was added
gene: FLNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FLNA were set to 32299270
Phenotypes for gene: FLNA were set to Macrothrombocytopaenia
Transplant Co-Morbidity v0.0 FLI1 Bryony Thompson gene: FLI1 was added
gene: FLI1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLI1 were set to 28255014; 24100448; 26316623
Phenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443
Transplant Co-Morbidity v0.0 FKRP Bryony Thompson gene: FKRP was added
gene: FKRP was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to PMID: 32914449
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
Transplant Co-Morbidity v0.0 FKBP10 Bryony Thompson gene: FKBP10 was added
gene: FKBP10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, 610968
Transplant Co-Morbidity v0.0 FHOD3 Bryony Thompson gene: FHOD3 was added
gene: FHOD3 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FHOD3 were set to 30442288; 33586461; 32335906; 31742804
Phenotypes for gene: FHOD3 were set to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Transplant Co-Morbidity v0.0 FHL1 Bryony Thompson gene: FHL1 was added
gene: FHL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696
Transplant Co-Morbidity v0.0 FGG Bryony Thompson gene: FGG was added
gene: FGG was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGG were set to 3337908; 11001903; 11001902
Phenotypes for gene: FGG were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Transplant Co-Morbidity v0.0 FGB Bryony Thompson gene: FGB was added
gene: FGB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGB were set to 12393540; 16195396
Phenotypes for gene: FGB were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004
Transplant Co-Morbidity v0.0 FGA Bryony Thompson gene: FGA was added
gene: FGA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGA were set to 17295221; 11739173; 19073821; 31064749
Phenotypes for gene: FGA were set to Afibrinogenemia, congenital (MIM#202400)
Transplant Co-Morbidity v0.0 FERMT3 Bryony Thompson gene: FERMT3 was added
gene: FERMT3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840
Transplant Co-Morbidity v0.0 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700
Transplant Co-Morbidity v0.0 FAM46A Bryony Thompson gene: FAM46A was added
gene: FAM46A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green, Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII, MIM# 617952
Transplant Co-Morbidity v0.0 F9 Bryony Thompson gene: F9 was added
gene: F9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: F9 were set to 33656538; 34015304; 19846852
Phenotypes for gene: F9 were set to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432; MONDO:0010604
Transplant Co-Morbidity v0.0 F8 Bryony Thompson gene: F8 was added
gene: F8 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: F8 were set to 2986011; 3097553
Phenotypes for gene: F8 were set to Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071; MONDO:0010602; Haemophilia A, MIM# 306700
Transplant Co-Morbidity v0.0 F7 Bryony Thompson gene: F7 was added
gene: F7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F7 were set to 12181036
Phenotypes for gene: F7 were set to MONDO:0009211; Factor VII deficiency, MIM# 227500
Transplant Co-Morbidity v0.0 F5 Bryony Thompson gene: F5 was added
gene: F5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to MONDO:0009210; Factor V deficiency, MIM# 227400; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; MONDO:0008560; Thrombophilia due to activated protein C resistance, MIM# 188055
Transplant Co-Morbidity v0.0 F2 Bryony Thompson gene: F2 was added
gene: F2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: F2 were set to 30297698
Phenotypes for gene: F2 were set to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD; {Stroke, ischemic, susceptibility to} 601367 Mu
Mode of pathogenicity for gene: F2 was set to Other
Transplant Co-Morbidity v0.0 F13B Bryony Thompson gene: F13B was added
gene: F13B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F13B were set to 26247044; 20331752
Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM#613235
Transplant Co-Morbidity v0.0 F13A1 Bryony Thompson gene: F13A1 was added
gene: F13A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F13A1 were set to 1644910; 10027709; 7727776; 32060721; 33802692
Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187
Transplant Co-Morbidity v0.0 F11 Bryony Thompson gene: F11 was added
gene: F11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: F11 were set to 18446632; 15026311
Phenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416
Transplant Co-Morbidity v0.0 F10 Bryony Thompson gene: F10 was added
gene: F10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: F10 were set to 2567188; 10746568; 2790181; 12028042
Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600; MONDO:0009212
Transplant Co-Morbidity v0.0 ETV6 Bryony Thompson gene: ETV6 was added
gene: ETV6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETV6 were set to 25807284; 25581430
Phenotypes for gene: ETV6 were set to Thrombocytopaenia 5, MIM# 616216
Transplant Co-Morbidity v0.0 ENG Bryony Thompson gene: ENG was added
gene: ENG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ENG were set to 34012068
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300
Transplant Co-Morbidity v0.0 EIF2B1 Bryony Thompson gene: EIF2B1 was added
gene: EIF2B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF2B1 were set to 31882561
Phenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related
Transplant Co-Morbidity v0.0 DTNBP1 Bryony Thompson gene: DTNBP1 was added
gene: DTNBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DTNBP1 were set to 23364359; 30990103; 12923531; 28259707
Phenotypes for gene: DTNBP1 were set to MONDO:0013559; Hermansky-Pudlak syndrome 7, MIM# 614076
Transplant Co-Morbidity v0.0 DSP Bryony Thompson gene: DSP was added
gene: DSP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSP were set to 24938629; 20864495; 22240500; 25765472; 11063735; 24108106; 31073624; 15941723; 31983221; 21397041; 23954618; 30345701; 33831308
Phenotypes for gene: DSP were set to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Carvajal syndrome; Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Transplant Co-Morbidity v0.0 DSG2 Bryony Thompson gene: DSG2 was added
gene: DSG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DSG2 were set to 33831308
Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Transplant Co-Morbidity v0.0 DSC2 Bryony Thompson gene: DSC2 was added
gene: DSC2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 28339476; 18957847; 23863954; 17963498; 17033975; 17186466; 21062920; 33831308
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Transplant Co-Morbidity v0.0 DMD Bryony Thompson gene: DMD was added
gene: DMD was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DMD were set to 26066469
Phenotypes for gene: DMD were set to Cardiomyopathy, dilated, 3B (MIM#302045)
Transplant Co-Morbidity v0.0 DIAPH1 Bryony Thompson gene: DIAPH1 was added
gene: DIAPH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIAPH1 were set to 27808407]; 26912466
Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900
Transplant Co-Morbidity v0.0 DES Bryony Thompson gene: DES was added
gene: DES was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DES were set to 23168288; 20423733; 20829228; 19879535; 22395865; 24200904; 29212896
Phenotypes for gene: DES were set to Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419
Transplant Co-Morbidity v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 30720493; 20301583; 2019602
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700
Transplant Co-Morbidity v0.0 CYCS Bryony Thompson gene: CYCS was added
gene: CYCS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYCS were set to 24326104; 30051457; 18345000
Phenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM# 612004
Transplant Co-Morbidity v0.0 CSRP3 Bryony Thompson gene: CSRP3 was added
gene: CSRP3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CSRP3 were set to 18505755; 30681346
Phenotypes for gene: CSRP3 were set to Cardiomyopathy, hypertrophic, 12, MIM# 612124
Transplant Co-Morbidity v0.0 CRTAP Bryony Thompson gene: CRTAP was added
gene: CRTAP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRTAP were set to 21955071; 17192541; 19846465
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII MIM#610682
Transplant Co-Morbidity v0.0 CREB3L1 Bryony Thompson gene: CREB3L1 was added
gene: CREB3L1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CREB3L1 were set to 24079343; 29936144; 30657919; 28817112
Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229
Transplant Co-Morbidity v0.0 COPB2 Bryony Thompson gene: COPB2 was added
gene: COPB2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 34450031
Phenotypes for gene: COPB2 were set to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Transplant Co-Morbidity v0.0 COL3A1 Bryony Thompson gene: COL3A1 was added
gene: COL3A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, MIM# 130050
Transplant Co-Morbidity v0.0 COL1A2 Bryony Thompson gene: COL1A2 was added
gene: COL1A2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL1A2 were set to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120
Transplant Co-Morbidity v0.0 COL1A1 Bryony Thompson gene: COL1A1 was added
gene: COL1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta
Transplant Co-Morbidity v0.0 CHST14 Bryony Thompson gene: CHST14 was added
gene: CHST14 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776
Transplant Co-Morbidity v0.0 CDKN2A Bryony Thompson gene: CDKN2A was added
gene: CDKN2A was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Transplant Co-Morbidity v0.0 CDK4 Bryony Thompson gene: CDK4 was added
gene: CDK4 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDK4 were set to Melanoma, cutaneous malignant, MIM#609408
Transplant Co-Morbidity v0.0 CDC42 Bryony Thompson gene: CDC42 was added
gene: CDC42 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 29394990
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737
Transplant Co-Morbidity v0.0 CCDC134 Bryony Thompson gene: CCDC134 was added
gene: CCDC134 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CCDC134 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC134 were set to 32181939; 35019224; 34204301
Phenotypes for gene: CCDC134 were set to Osteogenesis imperfecta, type XXII, MIM#619795
Transplant Co-Morbidity v0.0 CASR Bryony Thompson gene: CASR was added
gene: CASR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CASR were set to 22620673
Phenotypes for gene: CASR were set to severe hypercalcemia, bone demineralization, multiple fractures; Hyperparathyroidism, neonatal, MIM# 239200
Transplant Co-Morbidity v0.0 CASQ2 Bryony Thompson gene: CASQ2 was added
gene: CASQ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASQ2 were set to 16908766; 11704930; 34012068
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938
Transplant Co-Morbidity v0.0 CALM3 Bryony Thompson gene: CALM3 was added
gene: CALM3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM3 were set to 25460178; 31454269
Phenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM# 618782
Transplant Co-Morbidity v0.0 CALM2 Bryony Thompson gene: CALM2 was added
gene: CALM2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM2 were set to 31983240; 31170290
Phenotypes for gene: CALM2 were set to Long QT syndrome 15 616249; idopathic VF; sudden unexplained death
Transplant Co-Morbidity v0.0 CALM1 Bryony Thompson gene: CALM1 was added
gene: CALM1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CALM1 were set to 31170290
Phenotypes for gene: CALM1 were set to Long QT syndrome 14 616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 614916
Transplant Co-Morbidity v0.0 CACNA1S Bryony Thompson gene: CACNA1S was added
gene: CACNA1S was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility 5, MIM# 601887
Transplant Co-Morbidity v0.0 CACNA1C Bryony Thompson gene: CACNA1C was added
gene: CACNA1C was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1C were set to 31983240
Phenotypes for gene: CACNA1C were set to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005
Transplant Co-Morbidity v0.0 C1QBP Bryony Thompson gene: C1QBP was added
gene: C1QBP was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713
Transplant Co-Morbidity v0.0 BRCA2 Bryony Thompson gene: BRCA2 was added
gene: BRCA2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA2 were set to Breast-ovarian cancer, familial, 2, MIM#612555
Transplant Co-Morbidity v0.0 BRCA1 Bryony Thompson gene: BRCA1 was added
gene: BRCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1, MIM# 604370
Transplant Co-Morbidity v0.0 BMPR1A Bryony Thompson gene: BMPR1A was added
gene: BMPR1A was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green
Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900
Transplant Co-Morbidity v0.0 BMP1 Bryony Thompson gene: BMP1 was added
gene: BMP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP1 were set to 25214535; 25402547; 22052668; 22482805
Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII , MIM#614856
Transplant Co-Morbidity v0.0 BLOC1S6 Bryony Thompson gene: BLOC1S6 was added
gene: BLOC1S6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S6 were set to 29054114; 33543539; 22461475; 26575419; 32245340; 10610180
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171
Transplant Co-Morbidity v0.0 BLOC1S5 Bryony Thompson gene: BLOC1S5 was added
gene: BLOC1S5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S5 were set to PMID: 32565547
Phenotypes for gene: BLOC1S5 were set to Hermansky Pudlak syndrome type 11, MIM#619172
Transplant Co-Morbidity v0.0 BLOC1S3 Bryony Thompson gene: BLOC1S3 was added
gene: BLOC1S3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S3 were set to 32687635; 16385460; 22709368
Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560
Transplant Co-Morbidity v0.0 BAP1 Bryony Thompson gene: BAP1 was added
gene: BAP1 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BAP1 were set to Tumour predisposition syndrome, MIM#614327
Transplant Co-Morbidity v0.0 BAG5 Bryony Thompson gene: BAG5 was added
gene: BAG5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green
Mode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAG5 were set to 35044787
Phenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747
Transplant Co-Morbidity v0.0 BAG3 Bryony Thompson gene: BAG3 was added
gene: BAG3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAG3 were set to 25448463; 24623017; 21353195; 29323723; 28737513; 27391596; 25008357; 35802134; 30442290; 31983221; 33947203; 28211974
Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479; Myopathy, myofibrillar, 6, MIM# 612954
Transplant Co-Morbidity v0.0 B4GALT7 Bryony Thompson gene: B4GALT7 was added
gene: B4GALT7 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 26940150
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Transplant Co-Morbidity v0.0 B3GALT6 Bryony Thompson gene: B3GALT6 was added
gene: B3GALT6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALT6 were set to 23664118; 23664117
Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Transplant Co-Morbidity v0.0 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,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, MIM# 277900
Transplant Co-Morbidity v0.0 ARPC1B Bryony Thompson gene: ARPC1B was added
gene: ARPC1B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC1B were set to 29127144; 27965109; 28368018; 30254128
Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718
Transplant Co-Morbidity v0.0 APOE Bryony Thompson gene: APOE was added
gene: APOE was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy
Transplant Co-Morbidity v0.0 APOC2 Bryony Thompson gene: APOC2 was added
gene: APOC2 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APOC2 were set to 32280258; 32292609; PMID: 32562799; 26044956
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib MIM#207750
Transplant Co-Morbidity v0.0 APOB Bryony Thompson gene: APOB was added
gene: APOB was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, Hypercholesterolemia
Transplant Co-Morbidity v0.0 APOA5 Bryony Thompson gene: APOA5 was added
gene: APOA5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOA5 were set to Hyperchylomicronemia
Transplant Co-Morbidity v0.0 APOA1 Bryony Thompson gene: APOA1 was added
gene: APOA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: APOA1 were set to 16023124
Phenotypes for gene: APOA1 were set to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836
Transplant Co-Morbidity v0.0 APC Bryony Thompson gene: APC was added
gene: APC was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,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, MIM# 175100
Transplant Co-Morbidity v0.0 AP3B1 Bryony Thompson gene: AP3B1 was added
gene: AP3B1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Transplant Co-Morbidity v0.0 ANO6 Bryony Thompson gene: ANO6 was added
gene: ANO6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ANO6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO6 were set to 21107324; 27879994; 11895776; 27634832
Phenotypes for gene: ANO6 were set to MONDO:0009885; Scott syndrome, MIM# 262890
Transplant Co-Morbidity v0.0 ANO5 Bryony Thompson gene: ANO5 was added
gene: ANO5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO5 were set to 30712070; 29175271; 15124103; 30641283
Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260
Transplant Co-Morbidity v0.0 ANKRD26 Bryony Thompson gene: ANKRD26 was added
gene: ANKRD26 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD26 were set to 21211618
Phenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000
Transplant Co-Morbidity v0.0 ALPL Bryony Thompson gene: ALPL was added
gene: ALPL was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to disorder of bone metabolism; Hypophosphatasia
Transplant Co-Morbidity v0.0 ALPK3 Bryony Thompson gene: ALPK3 was added
gene: ALPK3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ALPK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 27106955; 26846950; 32480058
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM#618052
Transplant Co-Morbidity v0.0 ALMS1 Bryony Thompson gene: ALMS1 was added
gene: ALMS1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,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
Transplant Co-Morbidity v0.0 AKT2 Bryony Thompson gene: AKT2 was added
gene: AKT2 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17327441; 15166380; 17576055
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes
Transplant Co-Morbidity v0.0 ADAMTS13 Bryony Thompson gene: ADAMTS13 was added
gene: ADAMTS13 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS13 were set to 30312976; 11586351
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Transplant Co-Morbidity v0.0 ACVRL1 Bryony Thompson gene: ACVRL1 was added
gene: ACVRL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 34012068
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Transplant Co-Morbidity v0.0 ACTN1 Bryony Thompson gene: ACTN1 was added
gene: ACTN1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN1 were set to 23434115
Phenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193
Transplant Co-Morbidity v0.0 ACTC1 Bryony Thompson gene: ACTC1 was added
gene: ACTC1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26432839; 20600154; 30384889; 14605248; 31430208; 9563954
Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424
Transplant Co-Morbidity v0.0 ACTB Bryony Thompson gene: ACTB was added
gene: ACTB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to 30315159
Phenotypes for gene: ACTB were set to Syndromic thrombocytopaenia
Transplant Co-Morbidity v0.0 ACTA2 Bryony Thompson gene: ACTA2 was added
gene: ACTA2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, MIM# 611788
Transplant Co-Morbidity v0.0 ABCG8 Bryony Thompson gene: ABCG8 was added
gene: ABCG8 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCG8 were set to 32546081; 23556150
Phenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250
Transplant Co-Morbidity v0.0 ABCG5 Bryony Thompson gene: ABCG5 was added
gene: ABCG5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCG5 were set to Sitosterolaemia 2, MIM# 618666
Transplant Co-Morbidity v0.0 ABCC8 Bryony Thompson gene: ABCC8 was added
gene: ABCC8 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,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 Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; DIABETES MELLITUS, NONINSULIN-DEPENDENT; transient neonatal diabetes (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal 2, 610374; Permanent Neonatal Diabetes Mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, noninsulin-dependent, 125853; Permanent neonatal diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Transplant Co-Morbidity v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ABCA1 were set to 10431237; 10431236
Phenotypes for gene: ABCA1 were set to HDL deficiency, familial, 1, MIM# 604091; Tangier disease, MIM# 205400
Transplant Co-Morbidity v0.0 Bryony Thompson Added panel Transplant Co-Morbidity Superpanel
Mendeliome v1.1049 DUSP7 Sangavi Sivagnanasundram gene: DUSP7 was added
gene: DUSP7 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: DUSP7 was set to Unknown
Publications for gene: DUSP7 were set to https://doi.org/10.1155/2023/4348290
Phenotypes for gene: DUSP7 were set to Acute Myeloid Leukemia (AML)
Review for gene: DUSP7 was set to RED
Added comment: New gene with an association in AML prognosis.

Gao (2023) - Recruitment from three public AML cohorts - GSE71014, TARGET-AML, and TCGA-AML.
The study results suggest that with an DUSP7 may affect AML progression in individuals by affecting the recruitment of local immune cells.
Sources: Other
Hereditary Neuropathy v0.205 C12orf65 Sangavi Sivagnanasundram reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23188110, 3479531, 24198383; Phenotypes: Spastic paraplegia 55 (MIM#615035); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1049 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Red List (low evidence)
Mendeliome v1.1049 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence).
Mendeliome v1.1048 PYROXD2 Zornitza Stark Tag disputed tag was added to gene: PYROXD2.
Mendeliome v1.1048 PYROXD2 Zornitza Stark edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED
Mitochondrial disease v0.880 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Red List (low evidence)
Mitochondrial disease v0.880 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.879 PYROXD2 Zornitza Stark Tag disputed tag was added to gene: PYROXD2.
Mitochondrial disease v0.879 PYROXD2 Zornitza Stark edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED
Hereditary Neuropathy v0.205 ATM Sangavi Sivagnanasundram reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: 20301790; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 AP1S1 Sangavi Sivagnanasundram reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23423674; Phenotypes: MEDNIK Syndrome (MONDO:0012251, MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.205 ABCA1 Sangavi Sivagnanasundram reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 4165386, 31751110; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.146 TSC1 Luisa Weiss gene: TSC1 was added
gene: TSC1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC1 were set to 29706646; 34788679; 25817843
Phenotypes for gene: TSC1 were set to Focal cortical dysplasia, type II, somatic MIM#607341; Lymphangioleiomyomatosis MIM#606690; Tuberous sclerosis-1 MIM#191100
Review for gene: TSC1 was set to AMBER
Added comment: Two patients in large cohort studies of children with cryptogenic CP and maternally inherited mutation in TSC1, parents were mildly affected. In addition, one patient with a VUS in TSC1 with cortical and movement abnormalities, but no clinical diagnosis of TS.
Sources: Literature
Cerebral Palsy v1.146 TRAPPC9 Luisa Weiss gene: TRAPPC9 was added
gene: TRAPPC9 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC9 were set to 33528536; 34540776; 36475161
Phenotypes for gene: TRAPPC9 were set to Intellectual developmental disorder, autosomal recessive MIM#13 613192
Review for gene: TRAPPC9 was set to GREEN
Added comment: Two larger CP cohort studies with one patient each harboring biallelic TRAPPC9 mutations. No phenotypic information is given. In addition, one case report of a girl with CP and intellectual disability and biallelic TRAPPC9 mutations.
Sources: Literature
Cerebral Palsy v1.146 TMX2 Luisa Weiss gene: TMX2 was added
gene: TMX2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730
Added comment: Vandervore et al. published a larger study of several patients with neurological impariment and biallelic TMX2 mutations. 8 individuals out of 5 families had previously been diagnosed with CP. Most patients had severely impaired development and epilepsy.
Sources: Literature
Cerebral Palsy v1.146 TH Luisa Weiss gene: TH was added
gene: TH was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to 34788679
Phenotypes for gene: TH were set to Segawa syndrome, recessive MIM#605407
Review for gene: TH was set to AMBER
Added comment: 2 individual cases in one large Chinese CP cohort study, both with compound heterozygous mutations.
Sources: Literature
Cerebral Palsy v1.146 TEP1 Luisa Weiss gene: TEP1 was added
gene: TEP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TEP1 were set to 34543729
Review for gene: TEP1 was set to GREEN
Added comment: Wang et al. screened a large cohort of more than 600 CP patients from China and found several variants in TEP1, 11 of which were LoF, while no LoF variant was found in the control cohort. These children all had spastic CP. Among these 11 children, 6 children had birth asphyxia and neonatal encephalopathy. Compared to the total group with birth asphyxia (71/667), 6 patients with TEP1 LOF mutations had a significantly greater risk of birth asphyxia. They confirmed TEP1 as a risk factor for CP by cytological and animal models.
Sources: Literature
Cerebral Palsy v1.146 TANGO2 Luisa Weiss gene: TANGO2 was added
gene: TANGO2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 33528536; 34364746
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878
Review for gene: TANGO2 was set to GREEN
Added comment: 3 individual patients in two large CP cohort study, both with biallelic larger deletions encompassing TANGO2. Phenotypic information is only given for one patient, this one showed slowly progressive spastic paraplegia and ataxia.
Sources: Literature
Cerebral Palsy v1.146 SYNGAP1 Luisa Weiss gene: SYNGAP1 was added
gene: SYNGAP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYNGAP1 were set to 33528536; 31700678
Phenotypes for gene: SYNGAP1 were set to Intellectual developmental disorder, autosomal dominant 5 MIM#612621
Review for gene: SYNGAP1 was set to GREEN
Added comment: Moreno de Luca et al. found 3 heterozygous de novo SYNGAP1 mutations in a large CP cohort study. In addition, van Eyk et al. found one non-maternally inherited VUS in a child with CP in a cohort study.
Sources: Literature
Cerebral Palsy v1.146 SYNE1 Luisa Weiss gene: SYNE1 was added
gene: SYNE1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 34321325; 34816117
Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743
Review for gene: SYNE1 was set to AMBER
Added comment: Two cases each in two larger CP cohort studies, one with ataxic and one with spastic CP, with biallelic SYNE1 mutations.
Sources: Literature
Cerebral Palsy v1.146 SUOX Luisa Weiss gene: SUOX was added
gene: SUOX was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 27289259; 34540776
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency MIM#272300
Review for gene: SUOX was set to GREEN
Added comment: Zaki et al. presented 3 individual cases in a larger cohort study harboring biallelic SUOX mutations and presenting with spastic quadriparesis, even though no formal CP diagnosis was given. In addition, two additional cases of patients with homozygous mutations in SUOX from a larger cohort study from Iran.
Sources: Literature
Cerebral Palsy v1.146 STAMBP Luisa Weiss gene: STAMBP was added
gene: STAMBP was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAMBP were set to 33528536; 23542699
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome MIM#614261
Review for gene: STAMBP was set to GREEN
Added comment: 2 cases in a larger CP cohort study with homozygous missense mutations in STAMBP, no phenotypic information is given.
McDonnell et al. (23542699) presented a large cohort of previously published and unpublished patients with microcephaly-capillary malformation syndrome, which all had cutaneous abnormalities, developmental delay and epilepsy, but 8 of which presented with spastic quadriparesis. Overlap with CP is possible; however, additional phenotypic features seem to be present in any case.
Sources: Literature
Cerebral Palsy v1.146 ST3GAL5 Luisa Weiss gene: ST3GAL5 was added
gene: ST3GAL5 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL5 were set to 34540776; 30185102; 25131622; 24026681
Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome MIM#609056
Review for gene: ST3GAL5 was set to GREEN
Added comment: Several reports on patients with different forms of CP (dystonic, quadriplegic or spastic) later found to harbor biallelic ST3GAL5 mutations. One patient in a larger CP cohort (34540776) with a homozygous VUS, others with pathogenic mutations. Note that the patients which were presented with photographs all showed cutaneous abnormalities as well.
Sources: Literature
Cerebral Palsy v1.146 SPTBN2 Luisa Weiss reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31066025, 25981959, 31721007; Phenotypes: Spinocerebellar ataxia 5 MIM#600224, Spinocerebellar ataxia, autosomal recessive 14 MIM#615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cerebral Palsy v1.146 SPTBN2 Luisa Weiss Deleted their review
Cerebral Palsy v1.146 SPTBN2 Luisa Weiss gene: SPTBN2 was added
gene: SPTBN2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 31066025; 25981959; 31721007
Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia 5 MIM#600224; Spinocerebellar ataxia, autosomal recessive 14 MIM#615386
Added comment: 5 patients presented in an overview study with ataxic CP and heterozygous (4/5) or biallelic SPTBN2 (1/5) mutations. In addition, one more case report and another case in a larger CP cohort study, all children presenting with ataxic CP.
Note both heterozygous and biallelic mutations have been reported to cause ataxic CP in children, even though heterozygous mutations have previously been associated with adult onset spinocerebellar ataxia.
Sources: Literature
Dystonia and Chorea v0.228 EIF4A2 Zornitza Stark Marked gene: EIF4A2 as ready
Dystonia and Chorea v0.228 EIF4A2 Zornitza Stark Gene: eif4a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.228 EIF4A2 Zornitza Stark Phenotypes for gene: EIF4A2 were changed from DYSTONIA; TREMOR to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related
Dystonia and Chorea v0.227 EIF4A2 Zornitza Stark Classified gene: EIF4A2 as Green List (high evidence)
Dystonia and Chorea v0.227 EIF4A2 Zornitza Stark Gene: eif4a2 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.226 EIF4A2 Zornitza Stark edited their review of gene: EIF4A2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dystonia and Chorea v0.226 EIF4A2 Zornitza Stark reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.146 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1 MIM#151100; Leukemia, juvenile myelomonocytic, somatic MIM#607785; Metachondromatosis MIM#156250; Noonan syndrome MIM#163950 to LEOPARD syndrome 1 MIM#151100; Noonan syndrome MIM#163950
Cerebral Palsy v1.145 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Cerebral Palsy v1.145 PTPN11 Zornitza Stark Added comment: Comment when marking as ready: Very little phenotypic overlap between NS and CP.
Cerebral Palsy v1.145 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.145 PTPN11 Zornitza Stark Classified gene: PTPN11 as Amber List (moderate evidence)
Cerebral Palsy v1.145 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Marked gene: TMEM63B as ready
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Classified gene: TMEM63B as Green List (high evidence)
Genetic Epilepsy v0.1875 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1874 TMEM63B Zornitza Stark gene: TMEM63B was added
gene: TMEM63B was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63B were set to 37421948
Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related
Review for gene: TMEM63B was set to GREEN
Added comment: 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5309 TMEM63B Zornitza Stark Marked gene: TMEM63B as ready
Intellectual disability syndromic and non-syndromic v0.5309 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5309 TMEM63B Zornitza Stark Classified gene: TMEM63B as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5309 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5308 TMEM63B Zornitza Stark gene: TMEM63B was added
gene: TMEM63B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63B were set to 37421948
Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related
Review for gene: TMEM63B was set to GREEN
Added comment: 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%).
Sources: Literature
Mendeliome v1.1048 TMEM63B Zornitza Stark Marked gene: TMEM63B as ready
Mendeliome v1.1048 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Mendeliome v1.1048 TMEM63B Zornitza Stark Phenotypes for gene: TMEM63B were changed from developmental and epileptic encephalopathy, MONDO:0100062 to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related
Mendeliome v1.1047 TMEM63B Zornitza Stark Classified gene: TMEM63B as Green List (high evidence)
Mendeliome v1.1047 TMEM63B Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5307 DHX9 Zornitza Stark Marked gene: DHX9 as ready
Intellectual disability syndromic and non-syndromic v0.5307 DHX9 Zornitza Stark Added comment: Comment when marking as ready: LoF variants caused mild NDD phenotypes and nuclear localization signal (NLS) missense variants caused severe NDD. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress.
Intellectual disability syndromic and non-syndromic v0.5307 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Mendeliome v1.1046 DHX9 Zornitza Stark Marked gene: DHX9 as ready
Mendeliome v1.1046 DHX9 Zornitza Stark Added comment: Comment when marking as ready: LoF variants caused mild NDD phenotypes and nuclear localization signal (NLS) missense variants caused severe NDD. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress.
Mendeliome v1.1046 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5307 DHX9 Zornitza Stark Marked gene: DHX9 as ready
Intellectual disability syndromic and non-syndromic v0.5307 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5307 DHX9 Zornitza Stark Classified gene: DHX9 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5307 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5306 DHX9 Zornitza Stark gene: DHX9 was added
gene: DHX9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to Neurodevelopmental disorder, MONDO:0700092, DHX9-related
Review for gene: DHX9 was set to GREEN
Added comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). The three cases with CMT presented with adult-onset axonal neuropathy.
Sources: Literature
Mendeliome v1.1046 DHX9 Zornitza Stark Marked gene: DHX9 as ready
Mendeliome v1.1046 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Mendeliome v1.1046 DHX9 Zornitza Stark Classified gene: DHX9 as Green List (high evidence)
Mendeliome v1.1046 DHX9 Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.111 CASR Zornitza Stark Marked gene: CASR as ready
Paroxysmal Dyskinesia v0.111 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Paroxysmal Dyskinesia v0.111 CASR Zornitza Stark Phenotypes for gene: CASR were changed from Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification to Hypocalciuric hypercalcemia, type I, MIM# 145980; Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification
Paroxysmal Dyskinesia v0.110 CASR Zornitza Stark Classified gene: CASR as Green List (high evidence)
Paroxysmal Dyskinesia v0.110 CASR Zornitza Stark Gene: casr has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Marked gene: MCOLN1 as ready
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Classified gene: MCOLN1 as Green List (high evidence)
Syndromic Retinopathy v0.207 MCOLN1 Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.206 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Syndromic Retinopathy. Sources: Expert list
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCOLN1 were set to 17239335; 25156245; 35205297
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, MIM# 252650; MONDO:0009653
Review for gene: MCOLN1 was set to GREEN
Added comment: patients with MCOLN1-associated mucolipidosis IV present with ocular phenotypes including retinal dystrophy.

Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest retinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501).

The following are some of the reported cases:
PMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years.
PMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia.
PMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction.
Sources: Expert list
Cerebral Palsy v1.144 SPR Luisa Weiss gene: SPR was added
gene: SPR was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to 33528536; 34540776; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716
Review for gene: SPR was set to GREEN
Added comment: Two large CP cohort studies with one case each presenting with CP and biallelic SPR mutations. In one large study from 2012, 43 individuals with Sepiapterin reductase deficiency (SRD) were clinically analyzed, diagnoses of cerebral palsy (CP) were common, both hypotonic and dystonic.
Sources: Literature
Cerebral Palsy v1.144 SPATA5 Luisa Weiss gene: SPATA5 was added
gene: SPATA5 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 33528536
Phenotypes for gene: SPATA5 were set to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577
Review for gene: SPATA5 was set to GREEN
Added comment: 4 individual cases in one large CP cohort study with biallelic SPATA5 mutations. Spasticity has been described in other patients as well while developmental delay seems to be mostly present.
Sources: Literature
Cerebral Palsy v1.144 SON Luisa Weiss gene: SON was added
gene: SON was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SON were set to 33528536
Phenotypes for gene: SON were set to ZTTK syndrome MIM#617140
Review for gene: SON was set to AMBER
Added comment: 2 individual cases in one large CP cohort study. However, usually ZITK syndrome is a multisystem disorder and intellectual disabilities, and organ malformations seem to be leading phenotypic features.
Sources: Literature
Cerebral Palsy v1.144 SNX14 Luisa Weiss gene: SNX14 was added
gene: SNX14 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNX14 were set to 34540776; 29997391
Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354
Review for gene: SNX14 was set to AMBER
Added comment: One case in a large CP cohort study. In addition, one patient in a large cohort study on congenital ataxia, which can present as dystonic cerebral palsy.
Sources: Literature
Cerebral Palsy v1.144 SMARCB1 Luisa Weiss reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 34114234; Phenotypes: Coffin-Siris syndrome 3 MIM#614608, Rhabdoid tumors, somatic MIM#609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.144 SLITRK2 Luisa Weiss gene: SLITRK2 was added
gene: SLITRK2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLITRK2 were set to 35840571
Phenotypes for gene: SLITRK2 were set to Intellectual developmental disorder, X-linked MIM#301107
Review for gene: SLITRK2 was set to GREEN
Added comment: Case study of several patients harboring SLITRK2 variants and neurodevelopmental delay. Three patients reported with spasticity, diplegic cerebral palsy and dystonic diplegia, respectively. Functional tests show impaired neuronal function and knock-out mice showed abnormal gait.
Sources: Literature
Cerebral Palsy v1.144 SLC5A6 Luisa Weiss gene: SLC5A6 was added
gene: SLC5A6 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 33528536; 21112253; 33098801
Phenotypes for gene: SLC5A6 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135
Review for gene: SLC5A6 was set to GREEN
Added comment: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations.
Sources: Literature
Cerebral Palsy v1.144 SLC16A2 Luisa Weiss gene: SLC16A2 was added
gene: SLC16A2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 33528536; 35076175; 25280894
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome MIM#300523
Review for gene: SLC16A2 was set to GREEN
Added comment: Four individual cases in three large CP cohort studies presenting as dystonic or spastic CP. Mutations described were both nonsense and missense mutations and could be inherited maternally or de novo.
Sources: Literature
Cerebral Palsy v1.144 SLC13A5 Luisa Weiss gene: SLC13A5 was added
gene: SLC13A5 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 34364746; 34540776
Phenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905
Review for gene: SLC13A5 was set to AMBER
Added comment: Two large case studies with one patient described each harboring homozygous SLC13A5 variants, however, in PMID 34540776 this variant was defined as a VUS rather than a pathogenic mutation.
In other described cases epilepsy and ID seem to be the main phenotypic features, while ataxia and spasticity have been desribed.
Sources: Literature
Cerebral Palsy v1.144 SHANK3 Luisa Weiss reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 33098801; Phenotypes: Phelan-McDermid syndrome MIM#606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.144 SEPSECS Luisa Weiss gene: SEPSECS was added
gene: SEPSECS was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 33528536; 35252561; 34540776; 36085396
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D MIM#613811
Review for gene: SEPSECS was set to GREEN
Added comment: Biallelic SEPSECS mutations have been described to cause Pontocerebellar hypoplasia type 2D, which usually presents with progressive microcephaly, progressive brain atrophy, ID and variable seizures and movement disorders.
There have been two cases in two large CP cohort studies (33528536, 34540776) which have been proven to harbor biallelic SEPSECS variants, however, in PMID 34540776 these can only be formally classified as VUS. In addition, there is a case report (PMID 35252561) of a man presenting with no CP but spastic paraparesis and only slow disease progression in adult life (patient 48 years old at time of presentation). PMID 36085396 provides a literature review of described PCD2D patients, 72.7% of which have presented with spastic or dystonic quadriplegia, so there is significant phenotypic overlap with CP.
Sources: Literature
Cerebral Palsy v1.144 SATB2 Luisa Weiss gene: SATB2 was added
gene: SATB2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SATB2 were set to 33528536; 35076175
Phenotypes for gene: SATB2 were set to Glass syndrome MIM#612313
Review for gene: SATB2 was set to GREEN
Added comment: 4 patients in 3 large CP cohort studies were found to have heterozygous de novo SATB2 mutations, three of which were nonsense and one was a missense mutation. Note that in one patient an additional acute perinatal event (neonatal compartment syndrome, intracranial hemorrhage) was present which might have added to the CP phenotype.
Sources: Literature
Cerebral Palsy v1.144 SACS Luisa Weiss gene: SACS was added
gene: SACS was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to 33528536; 34816117; 29997391
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Review for gene: SACS was set to GREEN
Added comment: Multiple large and small cohort studies with more than 3 individual patients initially diagnosed as cerebral palsy and later diagnosed with biallelic SACS mutations. SACS is a known disease gene for spastic ataxia of Charlevoix-Saguenay, which can resemble CP but usually has a progressive course of disease.
Sources: Literature
Cerebral Palsy v1.144 RARS2 Luisa Weiss gene: RARS2 was added
gene: RARS2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS2 were set to 34077496; 34717047
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6 MIM#611523
Review for gene: RARS2 was set to GREEN
Added comment: Two male patients in a large CP cohort study with either spastic quadriplegic or dyskinetic CP. Both frameshift and missense mutations have been described.
PMID 34717047 presents a good overview of published cases with RARS2 mutations. Even though none of them were officially diagnosed with cerebral palsy, many showed progressive movement disorders like spastic quadriplegia, thus possibly presenting as CP.
Sources: Literature
Cerebral Palsy v1.144 RAB3GAP1 Luisa Weiss gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB3GAP1 were set to 33528536; 16532399; 27081543
Phenotypes for gene: RAB3GAP1 were set to Martsolf syndrome 2 MIM#619420; Warburg micro syndrome MIM#600118
Review for gene: RAB3GAP1 was set to GREEN
Added comment: Multiple case reports of patients with either Martsolf syndrome or Warburg micro syndrome and spastic diplegia or cerebral palsy, but all patients also presented with eye phenotype. In addition, two individuals in a large CP cohort study (no additional phenotypic information given).
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.5305 NLGN4X Zornitza Stark Publications for gene: NLGN4X were set to 12669065; 18231125; 10071191; 29428674
Intellectual disability syndromic and non-syndromic v0.5304 NLGN4X Zornitza Stark Classified gene: NLGN4X as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5304 NLGN4X Zornitza Stark Gene: nlgn4x has been classified as Green List (High Evidence).
Cerebral Palsy v1.144 PTPN23 Luisa Weiss gene: PTPN23 was added
gene: PTPN23 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 31395947; 25558065; 34064836
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
Review for gene: PTPN23 was set to AMBER
Added comment: Biallelic PTPN23 mutations have been associated with neurodevelopmental delay and structural brain abnormalities in an initial study of 7 patients. In this cohort, one had the initial diagnosis of cerebral palsy (patient 6), but one other patient (patient 4) showed spasticity and contractures and thus phenotypic overlap. In addition, this study referred to another study (25558065), in which a family with PTPN23 mutations was described. Even though in PMID:31395947 this family was described as having CP, this cannot be confirmed in the initial report. Note that final exon frameshift mutations in PTPN23 have been associated complex hereditary spastic paraplegia which might hint to a phenotypic overlap to CP.
Sources: Literature
Bone Marrow Failure v1.44 CLPB Pasquale Barbaro gene: CLPB was added
gene: CLPB was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: CLPB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CLPB were set to PMID: 34115842, 25597510, 25597511
Phenotypes for gene: CLPB were set to congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy
Penetrance for gene: CLPB were set to unknown
Mode of pathogenicity for gene: CLPB was set to Other
Review for gene: CLPB was set to GREEN
Added comment: Biallelic variants identified have been loss of function, and cause a severe syndrome associated with 3-MGA, cataracts, developmental delay, epilepsy. Heterozygous variants have been found in one paper (Warren et al) in 10 patients with non-syndromic congenital neutropenia and appear to cause a dominant negative effect.
Sources: Expert list
Cerebral Palsy v1.144 PTPN11 Luisa Weiss gene: PTPN11 was added
gene: PTPN11 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN11 were set to 33528536; 23799168
Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 MIM#151100; Leukemia, juvenile myelomonocytic, somatic MIM#607785; Metachondromatosis MIM#156250; Noonan syndrome MIM#163950
Review for gene: PTPN11 was set to GREEN
Added comment: One case report of a girl with hearing loss and CP later diagnosed as having a heterozygous de novo missense mutation in PTPN11. In addition, two individuals in a large CP cohort study with heterozygous missense PTPN11 mutations. No information about inheritance is given in these cases. Note that there is no information about additional phenotypic features in these two cases, but the girl in the case report presented with the typical clinical picture of Noonan Syndrome with multiple lentigines (NSML, formerly known as Leopard syndrome).
Sources: Literature
Dystonia and Chorea v0.226 EIF4A2 Shekeeb S gene: EIF4A2 was added
gene: EIF4A2 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EIF4A2 were set to 37485550
Phenotypes for gene: EIF4A2 were set to DYSTONIA; TREMOR
Penetrance for gene: EIF4A2 were set to unknown
Review for gene: EIF4A2 was set to GREEN
Added comment: Sources: Literature
Mendeliome v1.1045 TMEM63B Achchuthan Shanmugasundram changed review comment from: There is sufficient evidence for this gene to be included with green rating in intellectual disability and epilepsy panels.

17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame.

All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment.

All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%).
Sources: Literature; to: There is sufficient evidence for this gene to be included with green rating in 'Intellectual disability syndromic and non-syndromic' and 'Genetic epilepsy' panels.

17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame.

All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment.

All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%).
Sources: Literature
Mendeliome v1.1045 TMEM63B Achchuthan Shanmugasundram gene: TMEM63B was added
gene: TMEM63B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TMEM63B were set to 37421948
Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062
Review for gene: TMEM63B was set to GREEN
Added comment: There is sufficient evidence for this gene to be included with green rating in intellectual disability and epilepsy panels.

17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame.

All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment.

All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%).
Sources: Literature
Mendeliome v1.1045 DHX9 Achchuthan Shanmugasundram gene: DHX9 was added
gene: DHX9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37467750
Phenotypes for gene: DHX9 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; Charcot-Marie-Tooth disease, MONDO:0015626
Review for gene: DHX9 was set to GREEN
Added comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). The three cases with CMT presented with adult-onset axonal neuropathy.
Sources: Literature
Paroxysmal Dyskinesia v0.109 CASR Shekeeb S gene: CASR was added
gene: CASR was added to Paroxysmal Dyskinesia. Sources: Literature
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CASR were set to 34913197
Phenotypes for gene: CASR were set to Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification
Review for gene: CASR was set to GREEN
Added comment: Sources: Literature
Mendeliome v1.1045 MCOLN1 Achchuthan Shanmugasundram reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17239335, 25156245, 33965501, 35205297; Phenotypes: Mucolipidosis IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.144 GRIN1 Zornitza Stark Marked gene: GRIN1 as ready
Cerebral Palsy v1.144 GRIN1 Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.144 GRIN1 Zornitza Stark Classified gene: GRIN1 as Green List (high evidence)
Cerebral Palsy v1.144 GRIN1 Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence).
Mendeliome v1.1045 KLK1 Zornitza Stark Phenotypes for gene: KLK1 were changed from [Kallikrein, decreased urinary activity of] 615953 to [Kallikrein, decreased urinary activity of] 615953; Pulmonary arterial hypertension MONDO:0015924
Mendeliome v1.1044 KLK1 Zornitza Stark Publications for gene: KLK1 were set to
Mendeliome v1.1043 KLK1 Zornitza Stark Mode of inheritance for gene: KLK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.1042 KLK1 Zornitza Stark edited their review of gene: KLK1: Added comment: Association with PAH:

PMID: 31727138
screening of the biobank - 12 individuals with genetic variant in KLK1 relevant to PAH (not all were found to be hereditary). Assay showed that carriers of variants in KLK1 are less clinically severe compared to those who carry variants in BMPR2.

PMID: 17573418
Functional study using sensitive and specific type ELISAs to assay multiple panels of human tissue. KLK1 tissue was abundantly expressed in the pancreas and salivary gland and moderately expressed in the lungs.

Reviewed by ClinGen Pulmonary Hypertension GCEP on 30/8/2022 with LIMITED evidence supporting gene-disease validity; Changed publications: 31727138, 17573418; Changed phenotypes: [Kallikrein, decreased urinary activity of] 615953, Pulmonary arterial hypertension MONDO:0015924; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Marked gene: KLK1 as ready
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Classified gene: KLK1 as Red List (low evidence)
Pulmonary Arterial Hypertension v1.19 KLK1 Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence).
Pulmonary Arterial Hypertension v1.18 KLK1 Zornitza Stark reviewed gene: KLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.143 PRUNE1 Zornitza Stark Marked gene: PRUNE1 as ready
Cerebral Palsy v1.143 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.143 PRUNE1 Zornitza Stark Classified gene: PRUNE1 as Green List (high evidence)
Cerebral Palsy v1.143 PRUNE1 Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.142 PROC Zornitza Stark Phenotypes for gene: PROC were changed from Thrombophilia due to protein C deficiency, autosomal recessive, MIM# 612304 to Thrombophilia 3 due to protein C deficiency MIM#176860; Thrombophilia 3 due to protein C deficiency MIM#612304
Cerebral Palsy v1.141 PROC Zornitza Stark Publications for gene: PROC were set to 31700678; 20187890
Cerebral Palsy v1.140 PROC Zornitza Stark Mode of inheritance for gene: PROC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.139 PROC Zornitza Stark Classified gene: PROC as Green List (high evidence)
Cerebral Palsy v1.139 PROC Zornitza Stark Gene: proc has been classified as Green List (High Evidence).
Cerebral Palsy v1.138 POMGNT1 Zornitza Stark Marked gene: POMGNT1 as ready
Cerebral Palsy v1.138 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.138 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Retinitis pigmentosa 76 MIM#617123 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157
Cerebral Palsy v1.137 POMGNT1 Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence)
Cerebral Palsy v1.137 POMGNT1 Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.205 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Hereditary Neuropathy v0.205 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.205 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency; HMSN to Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170
Hereditary Neuropathy v0.204 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Hereditary Neuropathy v0.203 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36693417, 33661577; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral Palsy v1.136 POGZ Zornitza Stark Marked gene: POGZ as ready
Cerebral Palsy v1.136 POGZ Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.136 POGZ Zornitza Stark Classified gene: POGZ as Amber List (moderate evidence)
Cerebral Palsy v1.136 POGZ Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.203 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Hereditary Neuropathy v0.203 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v0.203 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to hereditary sensory and autonomic neuropathy type 4 MONDO:0009746
Hereditary Neuropathy v0.202 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Cerebral Palsy v1.135 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Cerebral Palsy v1.135 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.135 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020 to Spastic paraplegia 39 MIM#612020
Cerebral Palsy v1.134 PNPLA6 Zornitza Stark Classified gene: PNPLA6 as Amber List (moderate evidence)
Cerebral Palsy v1.134 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.133 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.133 TBX6 Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.133 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from Mayer-Rokitansky-Küster-Hauser syndrome; Combined skeletal-kidney dysplasia syndrome to Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related; Combined skeletal-kidney dysplasia syndrome
Mendeliome v1.1042 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5, 122600 to Spondylocostal dysostosis 5, 122600; Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related
Mendeliome v1.1041 WBP4 Zornitza Stark Marked gene: WBP4 as ready
Mendeliome v1.1041 WBP4 Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence).
Mendeliome v1.1041 WBP4 Zornitza Stark Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder, MONDO:0700092, WBP4-related to Neurodevelopmental disorder, MONDO:0700092, WBP4-related
Intellectual disability syndromic and non-syndromic v0.5303 WBP4 Zornitza Stark Marked gene: WBP4 as ready
Intellectual disability syndromic and non-syndromic v0.5303 WBP4 Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5303 WBP4 Zornitza Stark Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, WBP4-related
Mendeliome v1.1040 WBP4 Zornitza Stark Marked gene: WBP4 as ready
Mendeliome v1.1040 WBP4 Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence).
Mendeliome v1.1040 WBP4 Zornitza Stark Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, WBP4-related
Intellectual disability syndromic and non-syndromic v0.5302 KDM2A Zornitza Stark Marked gene: KDM2A as ready
Intellectual disability syndromic and non-syndromic v0.5302 KDM2A Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5302 KDM2A Zornitza Stark Phenotypes for gene: KDM2A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related
Mendeliome v1.1039 KDM2A Zornitza Stark Marked gene: KDM2A as ready
Mendeliome v1.1039 KDM2A Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence).
Mendeliome v1.1039 KDM2A Zornitza Stark Phenotypes for gene: KDM2A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related
Intellectual disability syndromic and non-syndromic v0.5301 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Intellectual disability syndromic and non-syndromic v0.5301 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5301 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Microcephaly v1.220 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Microcephaly v1.220 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Microcephaly v1.220 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Mendeliome v1.1038 PIP5K1C Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Lethal congenital contractural syndrome 3, MIM# 611369 to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related; Lethal congenital contractural syndrome 3, MIM# 611369
Mendeliome v1.1037 PIP5K1C Zornitza Stark Mode of inheritance for gene: PIP5K1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.1036 PIP5K1C Zornitza Stark Mode of inheritance for gene: PIP5K1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.128 INTS13 Zornitza Stark Marked gene: INTS13 as ready
Fetal anomalies v1.128 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Fetal anomalies v1.128 INTS13 Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
Clefting disorders v0.239 INTS13 Zornitza Stark Marked gene: INTS13 as ready
Clefting disorders v0.239 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Clefting disorders v0.239 INTS13 Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
Intellectual disability syndromic and non-syndromic v0.5300 INTS13 Zornitza Stark Marked gene: INTS13 as ready
Intellectual disability syndromic and non-syndromic v0.5300 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5300 INTS13 Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
Ciliopathies v1.44 INTS13 Zornitza Stark Marked gene: INTS13 as ready
Ciliopathies v1.44 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Ciliopathies v1.44 INTS13 Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
Mendeliome v1.1035 INTS13 Zornitza Stark Marked gene: INTS13 as ready
Mendeliome v1.1035 INTS13 Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence).
Mendeliome v1.1035 INTS13 Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related
Genomic newborn screening: BabyScreen+ v0.2177 PLG Zornitza Stark Mode of inheritance for gene: PLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Arterial Hypertension v1.18 KLK1 Sangavi Sivagnanasundram gene: KLK1 was added
gene: KLK1 was added to Pulmonary Arterial Hypertension. Sources: Other
Mode of inheritance for gene: KLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLK1 were set to 31727138; 17573418
Phenotypes for gene: KLK1 were set to Pulmonary arterial hypertension MONDO:0015924
Review for gene: KLK1 was set to AMBER
Added comment: PMID: 31727138
screening of the biobank - 12 individuals with genetic variant in KLK1 relevant to PAH (not all were found to be hereditary). Assay showed that carriers of variants in KLK1 are less clinically severe compared to those who carry variants in BMPR2.

PMID: 17573418
Functional study using sensitive and specific type ELISAs to assay multiple panels of human tissue. KLK1 tissue was abundantly expressed in the pancreas and salivary gland and moderately expressed in the lungs.

Reviewed by ClinGen Pulmonary Hypertension GCEP on 30/8/2022 with limited evidence supporting gene-disease validation
Sources: Other
Intellectual disability syndromic and non-syndromic v0.5299 TEFM Zornitza Stark Marked gene: TEFM as ready
Intellectual disability syndromic and non-syndromic v0.5299 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5299 TEFM Zornitza Stark Classified gene: TEFM as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5299 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5298 TEFM Zornitza Stark gene: TEFM was added
gene: TEFM was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEFM were set to 36823193
Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Review for gene: TEFM was set to GREEN
Added comment: Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis.
Sources: Literature
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Marked gene: TEFM as ready
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Classified gene: TEFM as Green List (high evidence)
Genetic Epilepsy v0.1873 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1872 TEFM Zornitza Stark gene: TEFM was added
gene: TEFM was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEFM were set to 36823193
Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Review for gene: TEFM was set to GREEN
Added comment: Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis.
Sources: Literature
Mitochondrial disease v0.879 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.878 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.878 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mendeliome v1.1034 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Combined Immunodeficiency v1.41 MAP3K14 Zornitza Stark Phenotypes for gene: MAP3K14 were changed from NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels
Mendeliome v1.1033 MAP3K14 Zornitza Stark Phenotypes for gene: MAP3K14 were changed from NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels
Mendeliome v1.1032 MAP3K14 Zornitza Stark edited their review of gene: MAP3K14: Changed phenotypes: Immunodeficiency 112, MIM# 620449, NIK deficiency, Poor T cell proliferation to antigen, Low B-cell numbers, Low NK number and function, recurrent bacterial/viral/ cryptosporidium infections, hypogammaglobulinaemia, decreased immunoglobulin levels
Fetal anomalies v1.127 SLC20A1 Zornitza Stark Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
Mendeliome v1.1032 SLC20A1 Zornitza Stark Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
Differences of Sex Development v0.280 SLC20A1 Zornitza Stark Marked gene: SLC20A1 as ready
Differences of Sex Development v0.280 SLC20A1 Zornitza Stark Gene: slc20a1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.280 SLC20A1 Zornitza Stark Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
Syndromic Retinopathy v0.205 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness MIM#617879 to Leber congenital amaurosis with early-onset deafness MIM#617879; Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related
Ciliary Dyskinesia v1.34 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Ciliary Dyskinesia v1.34 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Ciliary Dyskinesia v1.34 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related
Mendeliome v1.1031 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650 to Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650; Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related
Mendeliome v1.1030 CYHR1 Zornitza Stark Marked gene: CYHR1 as ready
Mendeliome v1.1030 CYHR1 Zornitza Stark Gene: cyhr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1030 CYHR1 Zornitza Stark Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related
Microcephaly v1.219 CYHR1 Zornitza Stark Marked gene: CYHR1 as ready
Microcephaly v1.219 CYHR1 Zornitza Stark Gene: cyhr1 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.219 CYHR1 Zornitza Stark Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related
Intellectual disability syndromic and non-syndromic v0.5297 CYHR1 Zornitza Stark Marked gene: CYHR1 as ready
Intellectual disability syndromic and non-syndromic v0.5297 CYHR1 Zornitza Stark Gene: cyhr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5297 CYHR1 Zornitza Stark Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related
Genomic newborn screening: BabyScreen+ v0.2176 ABCD4 Zornitza Stark Tag metabolic tag was added to gene: ABCD4.
Dystonia and Chorea v0.226 TSPOAP1 Zornitza Stark Marked gene: TSPOAP1 as ready
Dystonia and Chorea v0.226 TSPOAP1 Zornitza Stark Gene: tspoap1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.226 TSPOAP1 Zornitza Stark Phenotypes for gene: TSPOAP1 were changed from dystonia; intellectual disability; cerebellar atrophy to Dystonia 22, MIM# 620453
Dystonia and Chorea v0.225 TSPOAP1 Zornitza Stark Classified gene: TSPOAP1 as Green List (high evidence)
Dystonia and Chorea v0.225 TSPOAP1 Zornitza Stark Gene: tspoap1 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.224 TSPOAP1 Zornitza Stark reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5296 TSPOAP1 Zornitza Stark Phenotypes for gene: TSPOAP1 were changed from Dystonia, intellectual disability and cerebellar atrophy to Dystonia 22, MIM# 620453
Intellectual disability syndromic and non-syndromic v0.5295 TSPOAP1 Zornitza Stark reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.1029 TSPOAP1 Zornitza Stark Phenotypes for gene: TSPOAP1 were changed from Dystonia, intellectual disability and cerebellar atrophy to Dystonia 22, MIM# 620453
Mendeliome v1.1028 TSPOAP1 Zornitza Stark reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.5295 TAF4 Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF4-related to Intellectual developmental disorder, autosomal dominant 73, MIM# 620450
Intellectual disability syndromic and non-syndromic v0.5294 TAF4 Zornitza Stark edited their review of gene: TAF4: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 73, MIM# 620450
Mendeliome v1.1028 TAF4 Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF4-related to Intellectual developmental disorder, autosomal dominant 73, MIM# 620450
Mendeliome v1.1027 TAF4 Zornitza Stark edited their review of gene: TAF4: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 73, MIM# 620450
Regression v0.530 NAA60 Zornitza Stark Marked gene: NAA60 as ready
Regression v0.530 NAA60 Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence).
Regression v0.530 NAA60 Zornitza Stark Classified gene: NAA60 as Green List (high evidence)
Regression v0.530 NAA60 Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence).
Regression v0.529 NAA60 Zornitza Stark gene: NAA60 was added
gene: NAA60 was added to Regression. Sources: Other
Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAA60 were set to Basal ganglia calcification, MONDO:0008947, NAA60-related
Review for gene: NAA60 was set to GREEN
Added comment: ESHG 2023:
10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift).
All with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations).

NAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain).
Sources: Other
Mendeliome v1.1027 NAA60 Zornitza Stark Marked gene: NAA60 as ready
Mendeliome v1.1027 NAA60 Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence).
Mendeliome v1.1027 NAA60 Zornitza Stark Phenotypes for gene: NAA60 were changed from Basal ganglia calcification to Basal ganglia calcification, MONDO:0008947, NAA60-related
Brain Calcification v1.94 NAA60 Zornitza Stark Marked gene: NAA60 as ready
Brain Calcification v1.94 NAA60 Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence).
Brain Calcification v1.94 NAA60 Zornitza Stark Phenotypes for gene: NAA60 were changed from Basal ganglia calcification to Basal ganglia calcification, MONDO:0008947, NAA60-related
Mendeliome v1.1026 POPDC2 Zornitza Stark Marked gene: POPDC2 as ready
Mendeliome v1.1026 POPDC2 Zornitza Stark Gene: popdc2 has been classified as Green List (High Evidence).
Mendeliome v1.1026 POPDC2 Zornitza Stark Phenotypes for gene: POPDC2 were changed from Sinus node dysfunction to Sinoatrial node disorder, MONDO:0000469, POPDC2-related
Syndromic Retinopathy v0.204 GPATCH11 Zornitza Stark Marked gene: GPATCH11 as ready
Syndromic Retinopathy v0.204 GPATCH11 Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.204 GPATCH11 Zornitza Stark Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay
Intellectual disability syndromic and non-syndromic v0.5294 GPATCH11 Zornitza Stark Marked gene: GPATCH11 as ready
Intellectual disability syndromic and non-syndromic v0.5294 GPATCH11 Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5294 GPATCH11 Zornitza Stark Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay
Intellectual disability syndromic and non-syndromic v0.5293 GPATCH11 Zornitza Stark Classified gene: GPATCH11 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.5293 GPATCH11 Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence).
Mendeliome v1.1025 GPATCH11 Zornitza Stark Marked gene: GPATCH11 as ready
Mendeliome v1.1025 GPATCH11 Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence).
Mendeliome v1.1025 GPATCH11 Zornitza Stark Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay
Intellectual disability syndromic and non-syndromic v0.5292 KCNA3 Zornitza Stark Marked gene: KCNA3 as ready
Intellectual disability syndromic and non-syndromic v0.5292 KCNA3 Zornitza Stark Gene: kcna3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5292 KCNA3 Zornitza Stark Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related
Genetic Epilepsy v0.1871 KCNA3 Zornitza Stark Marked gene: KCNA3 as ready
Genetic Epilepsy v0.1871 KCNA3 Zornitza Stark Gene: kcna3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1871 KCNA3 Zornitza Stark Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder with epilepsy to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related
Mendeliome v1.1024 KCNA3 Zornitza Stark Marked gene: KCNA3 as ready
Mendeliome v1.1024 KCNA3 Zornitza Stark Gene: kcna3 has been classified as Green List (High Evidence).
Mendeliome v1.1024 KCNA3 Zornitza Stark Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related
Mendeliome v1.1023 FSD1L Zornitza Stark Marked gene: FSD1L as ready
Mendeliome v1.1023 FSD1L Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence).
Mendeliome v1.1023 FSD1L Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related
Intellectual disability syndromic and non-syndromic v0.5291 FSD1L Zornitza Stark Marked gene: FSD1L as ready
Intellectual disability syndromic and non-syndromic v0.5291 FSD1L Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5291 FSD1L Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related
Mendeliome v1.1022 DENND5B Zornitza Stark Marked gene: DENND5B as ready
Mendeliome v1.1022 DENND5B Zornitza Stark Gene: dennd5b has been classified as Green List (High Evidence).
Mendeliome v1.1022 DENND5B Zornitza Stark Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related
Intellectual disability syndromic and non-syndromic v0.5290 DENND5B Zornitza Stark Marked gene: DENND5B as ready
Intellectual disability syndromic and non-syndromic v0.5290 DENND5B Zornitza Stark Gene: dennd5b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5290 DENND5B Zornitza Stark Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related
Leukodystrophy v0.293 DENND5B Zornitza Stark Marked gene: DENND5B as ready
Leukodystrophy v0.293 DENND5B Zornitza Stark Gene: dennd5b has been classified as Green List (High Evidence).
Leukodystrophy v0.293 DENND5B Zornitza Stark Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related
Intellectual disability syndromic and non-syndromic v0.5289 DMAP1 Zornitza Stark Marked gene: DMAP1 as ready
Intellectual disability syndromic and non-syndromic v0.5289 DMAP1 Zornitza Stark Gene: dmap1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5289 DMAP1 Zornitza Stark Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related
Mendeliome v1.1021 DMAP1 Zornitza Stark Marked gene: DMAP1 as ready
Mendeliome v1.1021 DMAP1 Zornitza Stark Gene: dmap1 has been classified as Green List (High Evidence).
Mendeliome v1.1021 DMAP1 Zornitza Stark Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related
Mendeliome v1.1020 VGLL2 Zornitza Stark Marked gene: VGLL2 as ready
Mendeliome v1.1020 VGLL2 Zornitza Stark Gene: vgll2 has been classified as Green List (High Evidence).
Mendeliome v1.1020 VGLL2 Zornitza Stark Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related
Mandibulofacial Acrofacial dysostosis v1.8 VGLL2 Zornitza Stark Marked gene: VGLL2 as ready
Mandibulofacial Acrofacial dysostosis v1.8 VGLL2 Zornitza Stark Gene: vgll2 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v1.8 VGLL2 Zornitza Stark Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related
Regression v0.528 ZIC1 Zornitza Stark Marked gene: ZIC1 as ready
Regression v0.528 ZIC1 Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2176 COL4A6 Zornitza Stark Classified gene: COL4A6 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.2176 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.2175 COL4A6 Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813;

Family A:
- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6
- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.

Family B:
- Variant does not segregate within family with the proband being WT in this gene
- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.

In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed rating: RED; Changed publications: 33840813; Changed phenotypes: Deafness, X-linked 6 MIM#300914; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Deafness_IsolatedAndComplex v1.158 COL4A6 Zornitza Stark Classified gene: COL4A6 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.158 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.157 COL4A6 Zornitza Stark edited their review of gene: COL4A6: Changed rating: AMBER
Deafness_IsolatedAndComplex v1.157 COL4A6 Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813

Family A:
- Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6
- hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this.

Family B:
- Variant does not segregate within family with the proband being WT in this gene
- NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly.

In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed publications: 23714752, 33840813
Mendeliome v1.1019 COL4A6 Zornitza Stark Publications for gene: COL4A6 were set to 23714752; 12784310
Mendeliome v1.1018 COL4A6 Zornitza Stark Classified gene: COL4A6 as Amber List (moderate evidence)
Mendeliome v1.1018 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1017 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders; Neurodevelopmental disorder (MONDO#0700092), HCN2-related
Mendeliome v1.1016 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: ICG congress 2023: cohort presented with ID as key feature.; Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders, Neurodevelopmental disorder (MONDO#0700092), HCN2-related
Intellectual disability syndromic and non-syndromic v0.5288 HCN2 Zornitza Stark Marked gene: HCN2 as ready
Intellectual disability syndromic and non-syndromic v0.5288 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.5288 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17} MIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related to Neurodevelopmental disorder (MONDO#0700092), HCN2-related
Intellectual disability syndromic and non-syndromic v0.5287 HCN2 Zornitza Stark Classified gene: HCN2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.5287 HCN2 Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1016 SLC4A3 Zornitza Stark Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911
Mendeliome v1.1015 SLC4A3 Zornitza Stark Classified gene: SLC4A3 as Green List (high evidence)
Mendeliome v1.1015 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Green List (High Evidence).
Short QT syndrome v1.7 SLC4A3 Zornitza Stark Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911
Short QT syndrome v1.6 SLC4A3 Zornitza Stark Classified gene: SLC4A3 as Green List (high evidence)
Short QT syndrome v1.6 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.103 SOCS1 Zornitza Stark Marked gene: SOCS1 as ready
Inflammatory bowel disease v0.103 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Inflammatory bowel disease v0.103 SOCS1 Zornitza Stark Phenotypes for gene: SOCS1 were changed from Enteropathy to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Enteropathy
Inflammatory bowel disease v0.102 SOCS1 Zornitza Stark Classified gene: SOCS1 as Green List (high evidence)
Inflammatory bowel disease v0.102 SOCS1 Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence).
Mendeliome v1.1014 PLCG1 Zornitza Stark Marked gene: PLCG1 as ready
Mendeliome v1.1014 PLCG1 Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1014 PLCG1 Zornitza Stark Classified gene: PLCG1 as Amber List (moderate evidence)
Mendeliome v1.1014 PLCG1 Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1013 PLCG1 Zornitza Stark gene: PLCG1 was added
gene: PLCG1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLCG1 were set to 37422272
Phenotypes for gene: PLCG1 were set to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation
Mode of pathogenicity for gene: PLCG1 was set to Other
Review for gene: PLCG1 was set to AMBER
Added comment: Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease
Sources: Expert Review
Disorders of immune dysregulation v0.178 PLCG1 Zornitza Stark Marked gene: PLCG1 as ready
Disorders of immune dysregulation v0.178 PLCG1 Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.178 PLCG1 Zornitza Stark Phenotypes for gene: PLCG1 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation
Disorders of immune dysregulation v0.177 PLCG1 Zornitza Stark Classified gene: PLCG1 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.177 PLCG1 Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence).
Cerebral Palsy v1.133 PRUNE1 Luisa Weiss gene: PRUNE1 was added
gene: PRUNE1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRUNE1 were set to 33528536; 35379233
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481
Review for gene: PRUNE1 was set to GREEN
Added comment: Case report of one consanguineous Iranian family with two children affected with spastic quadriplegic CP and a homozygous start loss of PRUNE1. The children also showed hypotonia and cerebellar atrophy. In addition, two additional cases in one large CP cohort study, one with homozygous mutation the other with compound heterozygous mutation/deletion.
Sources: Literature
Cerebral Palsy v1.133 PROC Luisa Weiss reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700678, 20187890, 34531397; Phenotypes: Thrombophilia 3 due to protein C deficiency MIM#176860, Thrombophilia 3 due to protein C deficiency MIM#612304; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ataxia v1.9 TTI1 Zornitza Stark Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Ataxia v1.8 TTI1 Zornitza Stark Publications for gene: TTI1 were set to
Ataxia v1.7 TTI1 Zornitza Stark reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36724785; Phenotypes: Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal