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Callosome v0.542 DAB1_SCA37_ATTTC Bryony Thompson Marked STR: DAB1_SCA37_ATTTC as ready
Callosome v0.542 DAB1_SCA37_ATTTC Bryony Thompson Str: dab1_sca37_atttc has been classified as Green List (High Evidence).
Callosome v0.542 DAB1_SCA37_ATTTC Bryony Thompson SCA37 was changed to DAB1_SCA37_ATTTC
Callosome v0.541 ATXN10_SCA10_ATTCT Bryony Thompson SCA10 was changed to ATXN10_SCA10_ATTCT
Callosome v0.540 RNU4ATAC Zornitza Stark Tag non-coding gene tag was added to gene: RNU4ATAC.
Callosome v0.540 WDR47 Bryony Thompson Marked gene: WDR47 as ready
Callosome v0.540 WDR47 Bryony Thompson Gene: wdr47 has been classified as Green List (High Evidence).
Callosome v0.540 WDR47 Bryony Thompson Classified gene: WDR47 as Green List (high evidence)
Callosome v0.540 WDR47 Bryony Thompson Gene: wdr47 has been classified as Green List (High Evidence).
Callosome v0.539 WDR47 Bryony Thompson gene: WDR47 was added
gene: WDR47 was added to Callosome. Sources: Literature
Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR47 were set to 39609633
Phenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder MONDO:0100038, WDR47-related
Review for gene: WDR47 was set to GREEN
Added comment: 7 cases from 5 unrelated families with biallelic variants and a complex neurodevelopmental syndrome. The most frequent phenotypes were corpus callosum dysgenesis (7/7), microcephaly (7/7), mild to severe intellectual disability (7/7), epilepsy (7/7). Additionally, mouse models recapitulate the human phenotype. Loss of function is the mechanism of disease. Heterozygous parents had no phenotype.
Sources: Literature
Callosome v0.538 BHLHE22 Zornitza Stark Marked gene: BHLHE22 as ready
Callosome v0.538 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Callosome v0.538 BHLHE22 Zornitza Stark Classified gene: BHLHE22 as Green List (high evidence)
Callosome v0.538 BHLHE22 Zornitza Stark Gene: bhlhe22 has been classified as Green List (High Evidence).
Callosome v0.537 BHLHE22 Zornitza Stark gene: BHLHE22 was added
gene: BHLHE22 was added to Callosome. Sources: Literature
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related
Review for gene: BHLHE22 was set to GREEN
Added comment: Four individuals with de novo missense variants within the highly conserved helix-loop-helix domain and seven individuals from five unrelated families with a recurrent homozygous frameshift variant, p.(Gly74Alafs*18).

Individuals presented with absent or limited speech, severely impaired motor abilities, intellectual disability (ID), involuntary movements, autistic traits with stereotypies, abnormal muscle tone. The majority of individuals had partial or complete agenesis of the corpus callosum (ACC). Additional symptoms comprised epilepsy, variable dysmorphic features, and eye anomalies. One additional individual had spastic paraplegia without delayed development and ACC, expanding the phenotype to milder and later onset forms.

Mice lacking bhlhe22 show nearly complete loss of three brain comminsure, including the corpus callosum.
Sources: Literature
Callosome v0.536 SRPK3 Zornitza Stark Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to Intellectual developmental disorder, X-linked, 114, MIM#301134
Callosome v0.535 SRPK3 Zornitza Stark edited their review of gene: SRPK3: Changed phenotypes: Intellectual developmental disorder, X-linked, 114, MIM#301134
Callosome v0.535 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Callosome v0.535 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Callosome v0.535 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from to Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000
Callosome v0.534 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Callosome v0.533 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.532 SLC12A6 Zornitza Stark reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.532 PSMF1 Zornitza Stark Marked gene: PSMF1 as ready
Callosome v0.532 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Callosome v0.532 PSMF1 Zornitza Stark Phenotypes for gene: PSMF1 were changed from to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Callosome v0.531 PSMF1 Zornitza Stark Classified gene: PSMF1 as Green List (high evidence)
Callosome v0.531 PSMF1 Zornitza Stark Gene: psmf1 has been classified as Green List (High Evidence).
Callosome v0.530 PSMF1 Boris Keren gene: PSMF1 was added
gene: PSMF1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to doi: 10.1101/2024.06.19.24308302
Penetrance for gene: PSMF1 were set to Complete
Review for gene: PSMF1 was set to GREEN
Added comment: Patients have a range of neurological disorders ranging from neonatal lethality to Parkinsonism with intellectual disability.
Nearly all patients have corpus callosum agenesis.
LoF have a more severe phenotype than missense. The association of a LoF and a missense is common.
Sources: Literature
Callosome v0.530 RAB18 Zornitza Stark Marked gene: RAB18 as ready
Callosome v0.530 RAB18 Zornitza Stark Gene: rab18 has been classified as Green List (High Evidence).
Callosome v0.530 RAB18 Zornitza Stark Phenotypes for gene: RAB18 were changed from to Warburg micro syndrome 3, MIM# 614222
Callosome v0.529 RAB18 Zornitza Stark Publications for gene: RAB18 were set to
Callosome v0.528 RAB18 Zornitza Stark Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.527 RAB18 Zornitza Stark reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.527 CSMD1 Zornitza Stark Marked gene: CSMD1 as ready
Callosome v0.527 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Callosome v0.527 CSMD1 Zornitza Stark Classified gene: CSMD1 as Green List (high evidence)
Callosome v0.527 CSMD1 Zornitza Stark Gene: csmd1 has been classified as Green List (High Evidence).
Callosome v0.526 CSMD1 Krithika Murali gene: CSMD1 was added
gene: CSMD1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to PMID: 38816421
Phenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038
Review for gene: CSMD1 was set to GREEN
Added comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.

Loss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP.
Sources: Literature
Callosome v0.525 SRPK3 Zornitza Stark Publications for gene: SRPK3 were set to 38429495; 39073169
Callosome v0.524 SRPK3 Zornitza Stark edited their review of gene: SRPK3: Changed publications: 39073169
Callosome v0.524 SRPK3 Zornitza Stark Marked gene: SRPK3 as ready
Callosome v0.524 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Green List (High Evidence).
Callosome v0.524 SRPK3 Zornitza Stark Classified gene: SRPK3 as Green List (high evidence)
Callosome v0.524 SRPK3 Zornitza Stark Gene: srpk3 has been classified as Green List (High Evidence).
Callosome v0.523 SRPK3 Zornitza Stark gene: SRPK3 was added
gene: SRPK3 was added to Callosome. Sources: Literature
Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPK3 were set to 38429495; 39073169
Phenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related
Review for gene: SRPK3 was set to GREEN
Added comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish).
Sources: Literature
Callosome v0.522 SNF8 Zornitza Stark Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783
Callosome v0.521 SNF8 Zornitza Stark reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.521 USP14 Zornitza Stark Publications for gene: USP14 were set to PMID: 35066879
Callosome v0.520 USP14 Zornitza Stark Classified gene: USP14 as Green List (high evidence)
Callosome v0.520 USP14 Zornitza Stark Gene: usp14 has been classified as Green List (High Evidence).
Callosome v0.519 USP14 Zornitza Stark reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 38469793; Phenotypes: Syndromic disease MONDO:0002254, USP14-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.519 SLC4A10 Zornitza Stark Phenotypes for gene: SLC4A10 were changed from Neurodevelopmental disorderMONDO:0700092, SLC4A10-related to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746
Callosome v0.518 SLC4A10 Zornitza Stark reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.518 SNF8 Elena Savva Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Neurodevelopmental disorder (MONDO:0700092), SNF8-related
Callosome v0.517 SNF8 Elena Savva Classified gene: SNF8 as Green List (high evidence)
Callosome v0.517 SNF8 Elena Savva Gene: snf8 has been classified as Green List (High Evidence).
Callosome v0.517 SNF8 Elena Savva Phenotypes for gene: SNF8 were changed from Severe developmental delay, epileptic encephalopathy, brain MRI abnormality; intellectual disability, childhood-onset optic atrophy, ataxia to Neurodevelopmental disorder (MONDO:0700092), SNF8-related
Callosome v0.517 SNF8 Elena Savva Classified gene: SNF8 as Green List (high evidence)
Callosome v0.517 SNF8 Elena Savva Gene: snf8 has been classified as Green List (High Evidence).
Callosome v0.516 SNF8 Elena Savva Marked gene: SNF8 as ready
Callosome v0.516 SNF8 Elena Savva Gene: snf8 has been removed from the panel.
Callosome v0.516 SNF8 Chern Lim edited their review of gene: SNF8: Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), SNF8-related
Callosome v0.516 SNF8 Chern Lim gene: SNF8 was added
gene: SNF8 was added to Callosome. Sources: Literature
Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNF8 were set to 38423010
Phenotypes for gene: SNF8 were set to Severe developmental delay, epileptic encephalopathy, brain MRI abnormality; intellectual disability, childhood-onset optic atrophy, ataxia
Review for gene: SNF8 was set to GREEN
gene: SNF8 was marked as current diagnostic
Added comment: PMID: 38423010
- Nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8. In total, three putative LoF variants and four missense variants were identified.
- The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous.
- Functional studies using fibroblasts derived from patients and zebrafish model showed LoF is the disease mech.
Sources: Literature
Callosome v0.516 RAB34 Zornitza Stark Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718
Callosome v0.515 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Callosome v0.515 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Callosome v0.515 NUDT2 Zornitza Stark Classified gene: NUDT2 as Green List (high evidence)
Callosome v0.515 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Callosome v0.514 NUDT2 Lilian Downie edited their review of gene: NUDT2: Changed rating: GREEN
Callosome v0.514 NUDT2 Lilian Downie gene: NUDT2 was added
gene: NUDT2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to PMID: 38141063
Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy MIM#619844
Added comment: 9 individuals with partial agenesis or hypoplasia of the corpus callosum
Sources: Literature
Callosome v0.514 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Callosome v0.514 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Callosome v0.514 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related
Callosome v0.513 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Callosome v0.512 PRICKLE1 Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.511 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Callosome v0.511 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Callosome v0.510 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: 26727662; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.510 WBP4 Zornitza Stark Marked gene: WBP4 as ready
Callosome v0.510 WBP4 Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence).
Callosome v0.510 WBP4 Zornitza Stark Classified gene: WBP4 as Green List (high evidence)
Callosome v0.510 WBP4 Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence).
Callosome v0.509 WBP4 Lilian Downie gene: WBP4 was added
gene: WBP4 was added to Callosome. Sources: Literature
Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP4 were set to PMID: 37425688
Phenotypes for gene: WBP4 were set to Neurodevelopmental disorder, MONDO:0700092, WBP4-related
Added comment: 8 individuals from 11 families, 3 had hypoplastic/thin corpus callosum
Sources: Literature
Callosome v0.509 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities to Corpus callosum abnormalities MONDO:0009022
Callosome v0.508 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to 24780443; 28284480; 28742278
Callosome v0.507 ZEB1 Suliman Khan changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.
Callosome v0.507 ZEB1 Suliman Khan changed review comment from: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All patients reported had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrates the incomplete penetrance of anomalies of the corpus callosum in individuals with loss of function in ZEB1. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth, which suggests a larger spectrum of malformations related to ZEB1.; to: PMID: 37857482 reported nine individuals from 6 unrelated families with anomalies of the corpus callosum. All reported patients had normal schooling and none of them had ID. In five cases, the variant was inherited from a parent with a normal corpus callosum, which illustrated the incomplete penetrance of anomalies of the corpus callosum in individuals with a loss of function in ZEB1 gene. Additional symptoms reported in the patients were: two patients had a bicornuate uterus, three had a cardiovascular anomaly and four had macrocephaly at birth.
Callosome v0.507 PAK1 Elena Savva Classified gene: PAK1 as Green List (high evidence)
Callosome v0.507 PAK1 Elena Savva Gene: pak1 has been classified as Green List (High Evidence).
Callosome v0.506 PAK1 Elena Savva Marked gene: PAK1 as ready
Callosome v0.506 PAK1 Elena Savva Gene: pak1 has been removed from the panel.
Callosome v0.506 PAK1 Lauren Rogers changed review comment from: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder
Sources: Literature; to: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder. All missense variants
Sources: Literature
Callosome v0.506 ZEB1 Suliman Khan edited their review of gene: ZEB1: Changed rating: AMBER
Callosome v0.506 PAK1 Lauren Rogers gene: PAK1 was added
gene: PAK1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK1 were set to 37820543
Phenotypes for gene: PAK1 were set to Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Review for gene: PAK1 was set to GREEN
Added comment: PMID 37820543: thick corpus callosum was present in 3/10 individuals with a severe neurodevelopmental disorder
Sources: Literature
Callosome v0.506 ZEB1 Suliman Khan edited their review of gene: ZEB1: Changed publications: PMID: 37857482; Changed phenotypes: MIM# 609141, Corpus callosum abnormalities
Callosome v0.506 ZEB1 Suliman Khan reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.506 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535
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
Callosome v0.504 LNPK Lilian Downie 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
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
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
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).
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 v0.499 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).
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
Callosome v0.497 MLH1 Zornitza Stark Marked gene: MLH1 as ready
Callosome v0.497 MLH1 Zornitza Stark Gene: mlh1 has been classified as Red List (Low Evidence).
Callosome v0.497 MSH2 Zornitza Stark Marked gene: MSH2 as ready
Callosome v0.497 MSH2 Zornitza Stark Gene: msh2 has been classified as Red List (Low Evidence).
Callosome v0.497 MSH6 Zornitza Stark Marked gene: MSH6 as ready
Callosome v0.497 MSH6 Zornitza Stark Gene: msh6 has been classified as Red List (Low Evidence).
Callosome v0.497 RAB34 Elena Savva Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Callosome v0.497 RAB34 Elena Savva Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Callosome v0.496 RAB34 Elena Savva Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Callosome v0.496 RAB34 Elena Savva Classified gene: RAB34 as Green List (high evidence)
Callosome v0.496 RAB34 Elena Savva Gene: rab34 has been classified as Green List (High Evidence).
Callosome v0.495 RAB34 Elena Savva Marked gene: RAB34 as ready
Callosome v0.495 RAB34 Elena Savva Gene: rab34 has been removed from the panel.
Callosome v0.495 RAB34 Sarah Pantaleo gene: RAB34 was added
gene: RAB34 was added to Callosome. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37384395
Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies
Penetrance for gene: RAB34 were set to Complete
Review for gene: RAB34 was set to GREEN
Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS.

Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher).

Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects.

RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function.

Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands.

In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth.

All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities.

All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance.
Sources: Literature
Callosome v0.495 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Callosome v0.494 MLH1 Chirag Patel Classified gene: MLH1 as Red List (low evidence)
Callosome v0.494 MLH1 Chirag Patel Gene: mlh1 has been classified as Red List (Low Evidence).
Callosome v0.493 MSH2 Chirag Patel Classified gene: MSH2 as Red List (low evidence)
Callosome v0.493 MSH2 Chirag Patel Gene: msh2 has been classified as Red List (Low Evidence).
Callosome v0.492 MSH6 Chirag Patel Classified gene: MSH6 as Red List (low evidence)
Callosome v0.492 MSH6 Chirag Patel Gene: msh6 has been classified as Red List (Low Evidence).
Callosome v0.491 U2AF2 Elena Savva Classified gene: U2AF2 as Amber List (moderate evidence)
Callosome v0.491 U2AF2 Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Callosome v0.490 U2AF2 Elena Savva Classified gene: U2AF2 as Amber List (moderate evidence)
Callosome v0.490 U2AF2 Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Callosome v0.490 U2AF2 Elena Savva Classified gene: U2AF2 as Amber List (moderate evidence)
Callosome v0.490 U2AF2 Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Callosome v0.489 U2AF2 Elena Savva Marked gene: U2AF2 as ready
Callosome v0.489 U2AF2 Elena Savva Gene: u2af2 has been removed from the panel.
Callosome v0.489 U2AF2 Paul De Fazio gene: U2AF2 was added
gene: U2AF2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193
Phenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)
Review for gene: U2AF2 was set to AMBER
gene: U2AF2 was marked as current diagnostic
Added comment: 4 patients with de novo missense variants reported, of which 2 had hypoplastic corpus callosum (PMID: 34112922, 36747105).
Sources: Literature
Callosome v0.489 YWHAE Zornitza Stark Marked gene: YWHAE as ready
Callosome v0.489 YWHAE Zornitza Stark Gene: ywhae has been classified as Green List (High Evidence).
Callosome v0.489 YWHAE Zornitza Stark Classified gene: YWHAE as Green List (high evidence)
Callosome v0.489 YWHAE Zornitza Stark Gene: ywhae has been classified as Green List (High Evidence).
Callosome v0.488 CAMSAP1 Zornitza Stark Phenotypes for gene: CAMSAP1 were changed from lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related to Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316
Callosome v0.487 CAMSAP1 Zornitza Stark reviewed gene: CAMSAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.487 YWHAE Yetong Chen edited their review of gene: YWHAE: Changed publications: 36999555, 20452996, 19584063, 20599530, 28542865, 29458882
Callosome v0.487 YWHAE Yetong Chen gene: YWHAE was added
gene: YWHAE was added to Callosome. Sources: Literature
Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YWHAE were set to 36999555; 20452996; 19584063; 20599530
Phenotypes for gene: YWHAE were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: YWHAE was set to GREEN
Added comment: PMID 36999555 reports 10 patients, including 8 new individuals and 2 follow-up individuals with heterozygous YWHAE variants (3 splice site variants, 2 intragenic deletions and 10 large deletions encompassing YWHEA but not PAFAH1B1), who developed neurodevelopmental disease with brain abnormalities. The paper also references 5 patients from the following publications:
PMID 20452996 reports a patient with a YWHAE variant (deletion encompassing YWHEA but not PAFAH1B1) who had neurodevelopmental disease with brain abnormalities and developmental delay.
PMID 19584063 reports a patient with a YWHAE variant (deletion encompassing YWHEA but not PAHAF1B1) who had brain abnormalities and developmental delay. (Patients 2-5 with YWHAE deletions also presented developmental delay and brain abnormalities.)
PMID 20599530 reports a patient with a YWHAE variant (deletion encompassing YWHEA but not PAHAF1B1) who had brain abnormalities and developmental delay.
PMID 28542865 reports a patient with a YWHAE variant (intragenic deletion) who had myoclonic epilepsy and dysgraphia and learning disability related to mathematics. CT scan noted a Chiari Malformation Type I (CM), thin corpus callosum, cavum septum pellucidum and cavum vergae, but the patient's general and neurological exams were normal.
PMID 29458882 reports a fetus with a YWHAE variant (deletion encompassing YWHEA but not PAHAF1B1) who had facial dysmorphisms. The parents decided to terminate the pregnancy so detailed information regarding brain CT and development is not available. Although the authors concluded that the fetus did not have brain abnormalities, PMID 36999555 concludes that this patient had microcephaly (the last supplementary table).
Sources: Literature
Callosome v0.487 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Callosome v0.486 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Changed phenotypes: Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113
Callosome v0.486 CAMSAP1 Zornitza Stark Marked gene: CAMSAP1 as ready
Callosome v0.486 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Callosome v0.486 CAMSAP1 Zornitza Stark Classified gene: CAMSAP1 as Green List (high evidence)
Callosome v0.486 CAMSAP1 Zornitza Stark Gene: camsap1 has been classified as Green List (High Evidence).
Callosome v0.485 CAMSAP1 Naomi Baker gene: CAMSAP1 was added
gene: CAMSAP1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to lissencephaly spectrum disorders (MONDO:0018838), CAMSAP1-related
Review for gene: CAMSAP1 was set to GREEN
Added comment: Five unrelated families with bi-allelic loss-of-function variants. Clinical features of the syndrome include a characteristic craniofacial appearance, primary microcephaly, lissencephaly, agenesis or severe hypogenesis of the corpus callosum, severe neurodevelopmental delay, cortical visual impairment, and seizures.
Sources: Literature
Callosome v0.485 MYCBP2 Zornitza Stark Marked gene: MYCBP2 as ready
Callosome v0.485 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Callosome v0.485 MYCBP2 Zornitza Stark Phenotypes for gene: MYCBP2 were changed from neurodevelopmental spectrum disorder with corpus callosum defects to Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related; corpus callosum abnormalities
Callosome v0.484 MYCBP2 Zornitza Stark Classified gene: MYCBP2 as Green List (high evidence)
Callosome v0.484 MYCBP2 Zornitza Stark Gene: mycbp2 has been classified as Green List (High Evidence).
Callosome v0.483 MYCBP2 Suliman Khan changed review comment from: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature; to: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
Callosome v0.483 MYCBP2 Suliman Khan gene: MYCBP2 was added
gene: MYCBP2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYCBP2 were set to PMID: 36200388
Phenotypes for gene: MYCBP2 were set to neurodevelopmental spectrum disorder with corpus callosum defects
Penetrance for gene: MYCBP2 were set to Complete
Review for gene: MYCBP2 was set to GREEN
Added comment: PMID: 36200388 reported eight patients with neurodevelopmental disorder including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy, and autistic features. Each patient harbored a de novo LOF variant in MYCBP2 gene. Functional study supported a direct link between MYCBP2 and a human neurodevelopmental spectrum disorder specifically corpus callosum defects.
Sources: Literature
Callosome v0.483 ATP6V0C Alison Yeung Marked gene: ATP6V0C as ready
Callosome v0.483 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Callosome v0.483 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Callosome v0.483 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Callosome v0.482 ATP6V0C Naomi Baker gene: ATP6V0C was added
gene: ATP6V0C was added to Callosome. Sources: Literature
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V0C were set to PMID:36074901
Phenotypes for gene: ATP6V0C were set to neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related
Review for gene: ATP6V0C was set to GREEN
Added comment: 27 individuals reported with developmental delay, early-onset seizures, and ID. Of the 21 individuals with MRIs, five had agenesis/hypoplasia of the corpus callosum, five had cerebellar vermis, and four had delayed myelination. De novo variants identified in most individuals, including missense, frameshift and a stop-loss variant. Authors present some functional studies and postulate a dominant negative mechanism.
Sources: Literature
Callosome v0.482 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321; 36190515
Callosome v0.481 GCSH Ain Roesley Publications for gene: GCSH were set to 1671321
Callosome v0.481 GCSH Ain Roesley Classified gene: GCSH as Amber List (moderate evidence)
Callosome v0.481 GCSH Ain Roesley Gene: gcsh has been classified as Amber List (Moderate Evidence).
Callosome v0.480 GCSH Ain Roesley reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 36190515; Phenotypes: Glycine encephalopathy MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Callosome v0.480 ETFB Zornitza Stark Marked gene: ETFB as ready
Callosome v0.480 ETFB Zornitza Stark Gene: etfb has been classified as Red List (Low Evidence).
Callosome v0.480 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM# 231680
Callosome v0.479 ETFB Zornitza Stark Classified gene: ETFB as Red List (low evidence)
Callosome v0.479 ETFB Zornitza Stark Gene: etfb has been classified as Red List (Low Evidence).
Callosome v0.478 ETFB Zornitza Stark reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.478 ETFA Zornitza Stark Marked gene: ETFA as ready
Callosome v0.478 ETFA Zornitza Stark Gene: etfa has been classified as Red List (Low Evidence).
Callosome v0.478 ETFA Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM# 231680
Callosome v0.477 ETFA Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.476 ETFA Zornitza Stark Classified gene: ETFA as Red List (low evidence)
Callosome v0.476 ETFA Zornitza Stark Gene: etfa has been classified as Red List (Low Evidence).
Callosome v0.475 ETFA Zornitza Stark reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.475 ETFDH Zornitza Stark Marked gene: ETFDH as ready
Callosome v0.475 ETFDH Zornitza Stark Gene: etfdh has been classified as Red List (Low Evidence).
Callosome v0.475 ETFDH Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM#231680
Callosome v0.474 ETFDH Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.473 ETFDH Zornitza Stark Classified gene: ETFDH as Red List (low evidence)
Callosome v0.473 ETFDH Zornitza Stark Gene: etfdh has been classified as Red List (Low Evidence).
Callosome v0.472 ETFDH Zornitza Stark reviewed gene: ETFDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.472 GCDH Zornitza Stark Marked gene: GCDH as ready
Callosome v0.472 GCDH Zornitza Stark Gene: gcdh has been classified as Red List (Low Evidence).
Callosome v0.472 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from to Glutaric aciduria, type I MIM#231670
Callosome v0.471 GCDH Zornitza Stark Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.470 GCDH Zornitza Stark Classified gene: GCDH as Red List (low evidence)
Callosome v0.470 GCDH Zornitza Stark Gene: gcdh has been classified as Red List (Low Evidence).
Callosome v0.469 GCDH Zornitza Stark reviewed gene: GCDH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.469 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Callosome v0.469 MMACHC Zornitza Stark Gene: mmachc has been classified as Red List (Low Evidence).
Callosome v0.469 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Callosome v0.468 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.467 MMACHC Zornitza Stark Classified gene: MMACHC as Red List (low evidence)
Callosome v0.467 MMACHC Zornitza Stark Gene: mmachc has been classified as Red List (Low Evidence).
Callosome v0.466 MMACHC Zornitza Stark reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.466 LHX4 Zornitza Stark Marked gene: LHX4 as ready
Callosome v0.466 LHX4 Zornitza Stark Gene: lhx4 has been classified as Red List (Low Evidence).
Callosome v0.466 LHX4 Zornitza Stark Phenotypes for gene: LHX4 were changed from to Pituitary hormone deficiency, combined, 4, MIM# 262700
Callosome v0.465 LHX4 Zornitza Stark Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.464 LHX4 Zornitza Stark Classified gene: LHX4 as Red List (low evidence)
Callosome v0.464 LHX4 Zornitza Stark Gene: lhx4 has been classified as Red List (Low Evidence).
Callosome v0.463 LHX4 Zornitza Stark reviewed gene: LHX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.463 Zornitza Stark HPO terms changed from to Abnormal corpus callosum morphology, HP:0001273
List of related panels changed from to Abnormal corpus callosum morphology; HP:0001273
Callosome v0.462 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Callosome v0.462 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Callosome v0.462 LNPK Chirag Patel Classified gene: LNPK as Green List (high evidence)
Callosome v0.462 LNPK Chirag Patel Gene: lnpk has been classified as Green List (High Evidence).
Callosome v0.461 LNPK Chirag Patel gene: LNPK was added
gene: LNPK was added to Callosome. Sources: Literature
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to PMID: 35599435, 30032983
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: 3 unrelated consanguineous families with 4 affected individuals reported. WES revealed 3 novel homozygous frameshift variants in exon 10 of the LNPK gene (detected as a heterozygote in healthy parents). Some functional evidence with mRNA expression decreased in the fibroblast tissues of the affected individuals with homozygous variants and healthy heterozygous parents, with a greater rate in individuals with homozygous variants. There was no full-length protein in the affected individuals with homozygous variants detected using immunohistochemical studies. Common clinical manifestations in all cases included developmental delay, movement disorders, epilepsy, corpus callosum anomalies, and regression phenotype.
Sources: Literature
Callosome v0.460 ACADS Zornitza Stark Marked gene: ACADS as ready
Callosome v0.460 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Callosome v0.460 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Callosome v0.459 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.458 ACADS Zornitza Stark Classified gene: ACADS as Red List (low evidence)
Callosome v0.458 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Callosome v0.457 ACADS Zornitza Stark reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470, MONDO:0008722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.457 RAC3 Alison Yeung Marked gene: RAC3 as ready
Callosome v0.457 RAC3 Alison Yeung Gene: rac3 has been classified as Green List (High Evidence).
Callosome v0.457 RAC3 Alison Yeung Classified gene: RAC3 as Green List (high evidence)
Callosome v0.457 RAC3 Alison Yeung Gene: rac3 has been classified as Green List (High Evidence).
Callosome v0.456 RAC3 Alison Yeung gene: RAC3 was added
gene: RAC3 was added to Callosome. Sources: Literature
Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAC3 were set to 35851598
Phenotypes for gene: RAC3 were set to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577
Review for gene: RAC3 was set to GREEN
Added comment: Corpus callosal abnormalities reported in 100% of cohort of 10 patients
Sources: Literature
Callosome v0.455 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Callosome v0.455 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Callosome v0.455 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11 MIM#614922
Callosome v0.454 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Callosome v0.453 RMND1 Zornitza Stark Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.452 RMND1 Zornitza Stark reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.452 RMND1 Belinda Chong reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022098; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Callosome v0.452 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Callosome v0.452 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Callosome v0.452 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM#222448
Callosome v0.451 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Callosome v0.450 LRP2 Zornitza Stark Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.449 ADD1 Zornitza Stark Marked gene: ADD1 as ready
Callosome v0.449 ADD1 Zornitza Stark Gene: add1 has been classified as Green List (High Evidence).
Callosome v0.449 ADD1 Zornitza Stark Phenotypes for gene: ADD1 were changed from Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM # to Neurodevelopmental disorder MONDO:0700092, ADD1-related; Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Callosome v0.448 USP14 Zornitza Stark Marked gene: USP14 as ready
Callosome v0.448 USP14 Zornitza Stark Gene: usp14 has been classified as Red List (Low Evidence).
Callosome v0.448 USP14 Zornitza Stark Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Callosome v0.447 LRP2 Chirag Patel reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.447 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Callosome v0.447 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Callosome v0.447 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Callosome v0.447 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Callosome v0.446 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.446 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Callosome v0.446 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Callosome v0.446 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Callosome v0.446 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Callosome v0.445 ADD1 Chirag Patel gene: ADD1 was added
gene: ADD1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to PMID: 34906466
Phenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown
Sources: Literature
Callosome v0.444 USP14 Chirag Patel gene: USP14 was added
gene: USP14 was added to Callosome. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to PMID: 35066879
Phenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Review for gene: USP14 was set to RED
Added comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.
Sources: Literature
Callosome v0.443 CREB1 Zornitza Stark Marked gene: CREB1 as ready
Callosome v0.443 CREB1 Zornitza Stark Gene: creb1 has been classified as Red List (Low Evidence).
Callosome v0.443 CREB1 Zornitza Stark Phenotypes for gene: CREB1 were changed from to Agenesis of corpus callosum, MONDO:0009022
Callosome v0.442 CREB1 Zornitza Stark Publications for gene: CREB1 were set to
Callosome v0.441 CREB1 Zornitza Stark Mode of inheritance for gene: CREB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.440 CREB1 Zornitza Stark Classified gene: CREB1 as Red List (low evidence)
Callosome v0.440 CREB1 Zornitza Stark Gene: creb1 has been classified as Red List (Low Evidence).
Callosome v0.439 CREB1 Zornitza Stark reviewed gene: CREB1: Rating: RED; Mode of pathogenicity: None; Publications: 22267179; Phenotypes: Agenesis of corpus callosum, MONDO:0009022; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.439 DUSP6 Zornitza Stark Marked gene: DUSP6 as ready
Callosome v0.439 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Callosome v0.439 DUSP6 Zornitza Stark Phenotypes for gene: DUSP6 were changed from to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269
Callosome v0.438 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to
Callosome v0.437 DUSP6 Zornitza Stark Mode of inheritance for gene: DUSP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.436 DUSP6 Zornitza Stark Classified gene: DUSP6 as Red List (low evidence)
Callosome v0.436 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Callosome v0.435 DUSP6 Krithika Murali reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 32389901, 23643382; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: None
Callosome v0.435 PROK2 Zornitza Stark Marked gene: PROK2 as ready
Callosome v0.435 PROK2 Zornitza Stark Gene: prok2 has been classified as Red List (Low Evidence).
Callosome v0.435 PROK2 Zornitza Stark Phenotypes for gene: PROK2 were changed from to Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628
Callosome v0.434 PROK2 Zornitza Stark Publications for gene: PROK2 were set to
Callosome v0.433 PROK2 Zornitza Stark Mode of inheritance for gene: PROK2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.432 PROK2 Zornitza Stark Classified gene: PROK2 as Red List (low evidence)
Callosome v0.432 PROK2 Zornitza Stark Gene: prok2 has been classified as Red List (Low Evidence).
Callosome v0.431 PROK2 Zornitza Stark reviewed gene: PROK2: Rating: RED; Mode of pathogenicity: None; Publications: 18559922, 17054399, 17959774, 18285834; Phenotypes: Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.431 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Callosome v0.431 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Callosome v0.431 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Callosome v0.430 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Callosome v0.429 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.428 LHX3 Alison Yeung Marked gene: LHX3 as ready
Callosome v0.428 LHX3 Alison Yeung Added comment: Comment when marking as ready: Gene not associated with absence of corpus callosum.
Callosome v0.428 LHX3 Alison Yeung Gene: lhx3 has been classified as Red List (Low Evidence).
Callosome v0.428 LHX3 Alison Yeung Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Callosome v0.427 LHX3 Alison Yeung Mode of inheritance for gene: LHX3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.427 LHX3 Alison Yeung Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
Callosome v0.426 LHX3 Alison Yeung Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.426 LHX3 Alison Yeung Classified gene: LHX3 as Red List (low evidence)
Callosome v0.426 LHX3 Alison Yeung Gene: lhx3 has been classified as Red List (Low Evidence).
Callosome v0.425 LHX3 Alison Yeung reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Callosome v0.425 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31917109, 23553477; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.425 NONO Zornitza Stark Marked gene: NONO as ready
Callosome v0.425 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Callosome v0.425 NONO Zornitza Stark Classified gene: NONO as Green List (high evidence)
Callosome v0.425 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Callosome v0.424 NONO Krithika Murali gene: NONO was added
gene: NONO was added to Callosome. Sources: Literature
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 26571461; 27329731; 27550220
Phenotypes for gene: NONO were set to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Review for gene: NONO was set to GREEN
Added comment: Syndromic ID with associated features reported including corpus callosum and cardiac anomalies.
Sources: Literature
Callosome v0.424 NFIA Zornitza Stark Marked gene: NFIA as ready
Callosome v0.424 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Callosome v0.424 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Callosome v0.423 NFIA Zornitza Stark Publications for gene: NFIA were set to
Callosome v0.422 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.421 NEXN Zornitza Stark Marked gene: NEXN as ready
Callosome v0.421 NEXN Zornitza Stark Gene: nexn has been classified as Red List (Low Evidence).
Callosome v0.421 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Callosome v0.420 NEXN Zornitza Stark Publications for gene: NEXN were set to
Callosome v0.419 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.418 NEXN Zornitza Stark Classified gene: NEXN as Red List (low evidence)
Callosome v0.418 NEXN Zornitza Stark Gene: nexn has been classified as Red List (Low Evidence).
Callosome v0.417 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.417 NEXN Krithika Murali reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.417 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Callosome v0.417 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Callosome v0.417 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Callosome v0.416 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Callosome v0.415 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.414 NDUFV2 Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence)
Callosome v0.414 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Callosome v0.413 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from Developmental and epileptic encephalopathy 18, OMIM #615476 to Developmental and epileptic encephalopathy 18, OMIM #615476
Callosome v0.413 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Callosome v0.413 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Callosome v0.413 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476
Callosome v0.412 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Callosome v0.411 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.410 SZT2 Zornitza Stark reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.410 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.410 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Callosome v0.410 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Callosome v0.410 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Callosome v0.409 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Callosome v0.408 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.407 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Red List (low evidence)
Callosome v0.407 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Callosome v0.406 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Callosome v0.406 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Red List (Low Evidence).
Callosome v0.406 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Callosome v0.405 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Callosome v0.404 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.403 NDUFS4 Zornitza Stark Classified gene: NDUFS4 as Red List (low evidence)
Callosome v0.403 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Red List (Low Evidence).
Callosome v0.402 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Callosome v0.402 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Callosome v0.402 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Callosome v0.401 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Callosome v0.400 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.399 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Red List (low evidence)
Callosome v0.399 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Callosome v0.398 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: RED; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.398 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Callosome v0.398 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Red List (Low Evidence).
Callosome v0.398 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Callosome v0.397 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Callosome v0.396 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.395 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Red List (low evidence)
Callosome v0.395 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Red List (Low Evidence).
Callosome v0.394 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Callosome v0.394 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Callosome v0.394 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Callosome v0.393 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Callosome v0.392 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: RED; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555, 27079373, 15975579, 19364667, 27671926, 33093004, 29264396, 34484776; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: RED; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20382551, 21203893; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Callosome v0.391 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Red List (Low Evidence).
Callosome v0.391 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Callosome v0.390 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Callosome v0.389 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.388 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Red List (low evidence)
Callosome v0.388 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Red List (Low Evidence).
Callosome v0.387 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Callosome v0.387 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Callosome v0.387 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Callosome v0.386 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Callosome v0.385 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.384 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Callosome v0.384 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Callosome v0.383 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Callosome v0.383 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Callosome v0.383 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Callosome v0.382 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Callosome v0.381 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFAF4 Krithika Murali changed review comment from: Brain anomalies noted but not involving corpus callosum.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect; to: Brain anomalies noted but not involving corpus callosum.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Callosome v0.380 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: RED; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Callosome v0.380 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Callosome v0.380 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Callosome v0.379 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Callosome v0.378 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.377 NDUFAF2 Zornitza Stark Classified gene: NDUFAF2 as Red List (low evidence)
Callosome v0.377 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Red List (Low Evidence).
Callosome v0.376 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: RED; Mode of pathogenicity: None; Publications: 33528536, 34364746, 16200211, 19384974, 20571988; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.376 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Callosome v0.376 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Red List (Low Evidence).
Callosome v0.376 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Callosome v0.375 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Callosome v0.374 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.373 NDUFAF1 Zornitza Stark Classified gene: NDUFAF1 as Red List (low evidence)
Callosome v0.373 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Red List (Low Evidence).
Callosome v0.372 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: RED; Mode of pathogenicity: None; Publications: 17557076, 21931170, 16218961, 24963768, 34975718; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.372 NDUFA9 Zornitza Stark Marked gene: NDUFA9 as ready
Callosome v0.372 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Red List (Low Evidence).
Callosome v0.372 NDUFA9 Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247
Callosome v0.371 NDUFA9 Zornitza Stark Publications for gene: NDUFA9 were set to
Callosome v0.370 NDUFA9 Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.369 NDUFA9 Zornitza Stark Classified gene: NDUFA9 as Red List (low evidence)
Callosome v0.369 NDUFA9 Zornitza Stark Gene: ndufa9 has been classified as Red List (Low Evidence).
Callosome v0.368 NDUFA9 Zornitza Stark reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: None; Publications: 26425749, 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.368 NDUFA9 Krithika Murali reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.368 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Callosome v0.368 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Red List (Low Evidence).
Callosome v0.368 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Callosome v0.367 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Callosome v0.366 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.365 NDUFA10 Zornitza Stark Classified gene: NDUFA10 as Red List (low evidence)
Callosome v0.365 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Red List (Low Evidence).
Callosome v0.364 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: RED; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.364 EARS2 Bryony Thompson Marked gene: EARS2 as ready
Callosome v0.364 EARS2 Bryony Thompson Gene: ears2 has been classified as Green List (High Evidence).
Callosome v0.364 EARS2 Bryony Thompson Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Callosome v0.363 EARS2 Bryony Thompson Publications for gene: EARS2 were set to
Callosome v0.362 EARS2 Bryony Thompson Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.361 EARS2 Bryony Thompson reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Callosome v0.361 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Callosome v0.361 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Callosome v0.361 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Callosome v0.360 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Callosome v0.359 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.358 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Red List (low evidence)
Callosome v0.358 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Red List (Low Evidence).
Callosome v0.357 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.357 ABHD16A Zornitza Stark Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; Intellectual Disability; Callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities
Callosome v0.356 ABHD16A Zornitza Stark reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735, Intellectual Disability, Corpus callosum abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.356 FRA10AC1 Zornitza Stark Marked gene: FRA10AC1 as ready
Callosome v0.356 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Green List (High Evidence).
Callosome v0.356 FRA10AC1 Zornitza Stark Classified gene: FRA10AC1 as Green List (high evidence)
Callosome v0.356 FRA10AC1 Zornitza Stark Gene: fra10ac1 has been classified as Green List (High Evidence).
Callosome v0.355 FRA10AC1 Zornitza Stark gene: FRA10AC1 was added
gene: FRA10AC1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related
Review for gene: FRA10AC1 was set to GREEN
Added comment: PMID 34694367: 5 individuals from 3 unrelated families reported. Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism.
Sources: Literature
Callosome v0.354 COX15 Zornitza Stark Marked gene: COX15 as ready
Callosome v0.354 COX15 Zornitza Stark Gene: cox15 has been classified as Red List (Low Evidence).
Callosome v0.354 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Callosome v0.353 COX15 Zornitza Stark Publications for gene: COX15 were set to
Callosome v0.352 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.351 COX15 Zornitza Stark Classified gene: COX15 as Red List (low evidence)
Callosome v0.351 COX15 Zornitza Stark Gene: cox15 has been classified as Red List (Low Evidence).
Callosome v0.350 COX15 Zornitza Stark reviewed gene: COX15: Rating: RED; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.350 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Callosome v0.350 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Callosome v0.350 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337
Callosome v0.349 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Callosome v0.348 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.347 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.347 CEP135 Zornitza Stark Marked gene: CEP135 as ready
Callosome v0.347 CEP135 Zornitza Stark Gene: cep135 has been classified as Red List (Low Evidence).
Callosome v0.347 CEP135 Zornitza Stark Phenotypes for gene: CEP135 were changed from to Microcephalic primordial dwarfism; Microcephaly 8, primary, autosomal recessive, 614673
Callosome v0.346 CEP135 Zornitza Stark Publications for gene: CEP135 were set to
Callosome v0.345 CEP135 Zornitza Stark Mode of inheritance for gene: CEP135 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.344 CEP135 Zornitza Stark Classified gene: CEP135 as Red List (low evidence)
Callosome v0.344 CEP135 Zornitza Stark Gene: cep135 has been classified as Red List (Low Evidence).
Callosome v0.343 CEP135 Zornitza Stark reviewed gene: CEP135: Rating: RED; Mode of pathogenicity: None; Publications: 30214071, 22521416, 26657937; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.343 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Callosome v0.342 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.342 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Callosome v0.342 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Red List (Low Evidence).
Callosome v0.342 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Callosome v0.341 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to
Callosome v0.340 CYP11A1 Zornitza Stark Mode of inheritance for gene: CYP11A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.339 CYP11A1 Zornitza Stark Classified gene: CYP11A1 as Red List (low evidence)
Callosome v0.339 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Red List (Low Evidence).
Callosome v0.338 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: RED; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448, 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.338 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Callosome v0.338 CENPJ Zornitza Stark Gene: cenpj has been classified as Red List (Low Evidence).
Callosome v0.338 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358
Callosome v0.337 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Callosome v0.336 CENPJ Zornitza Stark Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.335 CENPJ Zornitza Stark Classified gene: CENPJ as Red List (low evidence)
Callosome v0.335 CENPJ Zornitza Stark Gene: cenpj has been classified as Red List (Low Evidence).
Callosome v0.334 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.334 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Callosome v0.334 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Red List (Low Evidence).
Callosome v0.334 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473
Callosome v0.333 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Callosome v0.332 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.331 ETHE1 Zornitza Stark Classified gene: ETHE1 as Red List (low evidence)
Callosome v0.331 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Red List (Low Evidence).
Callosome v0.330 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.330 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Callosome v0.329 EXOSC5 Zornitza Stark Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.328 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia
Callosome v0.328 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.327 HCFC1 Zornitza Stark edited their review of gene: HCFC1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.327 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to 22279524
Callosome v0.326 SNIP1 Zornitza Stark Tag founder tag was added to gene: SNIP1.
Callosome v0.326 SNIP1 Zornitza Stark changed review comment from: Three Amish individuals with same homozygous variant, founder effect.; to: Four Amish individuals with same homozygous variant, founder effect.
Callosome v0.326 SNIP1 Zornitza Stark edited their review of gene: SNIP1: Changed publications: 22279524, 34570759
Callosome v0.326 ABHD16A Seb Lunke Marked gene: ABHD16A as ready
Callosome v0.326 ABHD16A Seb Lunke Gene: abhd16a has been classified as Green List (High Evidence).
Callosome v0.326 ABHD16A Seb Lunke Phenotypes for gene: ABHD16A were changed from Spastic paraplegia to Spastic paraplegia; Intellectual Disability; Callosome
Callosome v0.325 ABHD16A Seb Lunke Classified gene: ABHD16A as Green List (high evidence)
Callosome v0.325 ABHD16A Seb Lunke Gene: abhd16a has been classified as Green List (High Evidence).
Callosome v0.324 ABHD16A Lucy Spencer gene: ABHD16A was added
gene: ABHD16A was added to Callosome. Sources: Literature
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to PMID: 34587489
Phenotypes for gene: ABHD16A were set to Spastic paraplegia
Review for gene: ABHD16A was set to GREEN
Added comment: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls.
In 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian.
4 missense variants, 1 frameshift, 1 nonsense.
From PMID: 34587489
Sources: Literature
Callosome v0.324 HCFC1 Zornitza Stark Marked gene: HCFC1 as ready
Callosome v0.324 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Red List (Low Evidence).
Callosome v0.324 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from to Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541
Callosome v0.323 HCFC1 Zornitza Stark Publications for gene: HCFC1 were set to
Callosome v0.322 HCFC1 Zornitza Stark Mode of inheritance for gene: HCFC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.321 HCFC1 Zornitza Stark Classified gene: HCFC1 as Red List (low evidence)
Callosome v0.321 HCFC1 Zornitza Stark Gene: hcfc1 has been classified as Red List (Low Evidence).
Callosome v0.320 HCFC1 Zornitza Stark reviewed gene: HCFC1: Rating: RED; Mode of pathogenicity: None; Publications: 34164576, 24011988, 31207118; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.320 CLCN3 Zornitza Stark edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512, Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517
Callosome v0.320 CLCN3 Zornitza Stark Phenotypes for gene: CLCN3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512
Callosome v0.319 CLCN3 Zornitza Stark edited their review of gene: CLCN3: Changed phenotypes: Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512
Callosome v0.319 SCA37 Bryony Thompson Classified STR: SCA37 as Green List (high evidence)
Callosome v0.319 SCA37 Bryony Thompson Str: sca37 has been classified as Green List (High Evidence).
Callosome v0.318 SCA37 Bryony Thompson STR: SCA37 was added
STR: SCA37 was added to Callosome. Sources: Expert list
Mode of inheritance for STR: SCA37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA37 were set to 28686858; 31145571
Phenotypes for STR: SCA37 were set to Spinocerebellar ataxia 37 MIM#615945
Review for STR: SCA37 was set to GREEN
STR: SCA37 was marked as clinically relevant
Added comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
Located in a 5'UTR intron, flanked by (ATTTT)n on both sides. RNA toxicity is the mechanism of disease.
Non-pathogenic allele: (ATTTT)7–400
Pathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]
Sources: Expert list
Callosome v0.317 Bryony Thompson removed STR:DAB1 from the panel
Callosome v0.316 SCA10 Bryony Thompson Marked STR: SCA10 as ready
Callosome v0.316 SCA10 Bryony Thompson Str: sca10 has been classified as Green List (High Evidence).
Callosome v0.316 SCA10 Bryony Thompson Classified STR: SCA10 as Green List (high evidence)
Callosome v0.316 SCA10 Bryony Thompson Str: sca10 has been classified as Green List (High Evidence).
Callosome v0.315 SCA10 Bryony Thompson STR: SCA10 was added
STR: SCA10 was added to Callosome. Sources: Expert list
Mode of inheritance for STR: SCA10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA10 were set to 20301354; 11017075
Phenotypes for STR: SCA10 were set to Spinocerebellar ataxia 10 MIM#603516
Review for STR: SCA10 was set to GREEN
STR: SCA10 was marked as clinically relevant
Added comment: NM_013236​.2:c.1430+54822ATTCT[X]
Toxic RNA gain-of-function mechanism of disease
Normal alleles: 10-32 ATTCT repeats
Alleles of questionable significance: 33-280 ATTCT repeats
Reduced-penetrance alleles: 33-850 repeats
Full-penetrance alleles: 800-4,500 ATTCT repeats
Sources: Expert list
Callosome v0.314 ATXN10 Bryony Thompson Classified gene: ATXN10 as No list
Callosome v0.314 ATXN10 Bryony Thompson Added comment: Comment on list classification: STR is the only reported cause of disease. Added as an STR to the panel.
Callosome v0.314 ATXN10 Bryony Thompson Gene: atxn10 has been removed from the panel.
Callosome v0.313 DAB1 Bryony Thompson Marked STR: DAB1 as ready
Callosome v0.313 DAB1 Bryony Thompson Str: dab1 has been classified as Green List (High Evidence).
Callosome v0.313 DAB1 Bryony Thompson Classified STR: DAB1 as Green List (high evidence)
Callosome v0.313 DAB1 Bryony Thompson Str: dab1 has been classified as Green List (High Evidence).
Callosome v0.312 DAB1 Bryony Thompson STR: DAB1 was added
STR: DAB1 was added to Callosome. Sources: Expert list
Mode of inheritance for STR: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DAB1 were set to 28686858; 31145571
Phenotypes for STR: DAB1 were set to Spinocerebellar ataxia 37 MIM#615945
Review for STR: DAB1 was set to GREEN
STR: DAB1 was marked as clinically relevant
Added comment: NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
Located in a 5'UTR intron, flanked by (ATTTT)n on both sides. RNA toxicity is the mechanism of disease.
Non-pathogenic allele: (ATTTT)7–400
Pathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]
Sources: Expert list
Callosome v0.311 DAB1 Bryony Thompson Classified gene: DAB1 as No list
Callosome v0.311 DAB1 Bryony Thompson Added comment: Comment on list classification: STR expansion is the mechanism of disease for this gene. It has been added as an STR to this panel.
Callosome v0.311 DAB1 Bryony Thompson Gene: dab1 has been removed from the panel.
Callosome v0.310 SUPT16H Zornitza Stark Phenotypes for gene: SUPT16H were changed from Intellectual disability; Abnormality of the corpus callosum to Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480; Intellectual disability; Abnormality of the corpus callosum
Callosome v0.309 SUPT16H Zornitza Stark edited their review of gene: SUPT16H: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480, Intellectual disability, Abnormality of the corpus callosum
Callosome v0.309 CLCN3 Zornitza Stark Marked gene: CLCN3 as ready
Callosome v0.309 CLCN3 Zornitza Stark Gene: clcn3 has been classified as Green List (High Evidence).
Callosome v0.309 CLCN3 Zornitza Stark Classified gene: CLCN3 as Green List (high evidence)
Callosome v0.309 CLCN3 Zornitza Stark Gene: clcn3 has been classified as Green List (High Evidence).
Callosome v0.308 CLCN3 Zornitza Stark gene: CLCN3 was added
gene: CLCN3 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CLCN3 were set to 34186028
Phenotypes for gene: CLCN3 were set to Neurodevelopmental disorder
Mode of pathogenicity for gene: CLCN3 was set to Other
Review for gene: CLCN3 was set to GREEN
Added comment: 11 individuals reported, 9 that carried 8 different rare heterozygous missense variants in CLCN3, and 2 siblings that were homozygous for an NMD-predicted frameshift variant likely abolishing ClC-3 function. All missense variants were confirmed to be de novo in eight individuals for whom parental data was available.

The 11 individuals in the cohort share clinical features of variable severity. All 11 have GDD or ID and dysmorphic features, and a majority has mood or behavioural disorders and structural brain abnormalities:
- Structural brain abnormalities on MRI (9/11) included partial or full agenesis of the corpus callosum (6/9), disorganized cerebellar folia (4/9), delayed myelination (3/9), decreased white matter volume (3/9), pons hypoplasia (3/9), and dysmorphic dentate nuclei (3/9). Six of those with brain abnormalities also presented with seizures.
- Nine have abnormal vision, including strabismus in four and inability to fix or follow in the two with homozygous loss-of-function variants.
- Hypotonia ranging from mild to severe was reported in 7 of the 11 individuals.
- Six have mood or behavioural disorders, particularly anxiety (3/6).
- Consistent dysmorphic facial features included microcephaly, prominent forehead, hypertelorism, down-slanting palpebral fissures, full cheeks, and micrognathia.

The severity of disease in the two siblings with homozygous disruption of ClC-3 is consistent with the drastic phenotype seen in Clcn3 KO mice. The disease was more severe in two siblings carrying homozygous loss-of-function variants with the presence of GDD, absent speech, seizures, and salt and pepper fundal pigmentation in both individuals, with one deceased at 14 months of age. The siblings also had significant neuroanatomical findings including diffusely decreased white matter volume, thin corpora callosa, small hippocampi, and disorganized cerebellar folia. Supporting biallelic inheritance for LoF variants, disruption of mouse Clcn3 results in drastic neurodegeneration with loss of the hippocampus a few months after birth and early retinal degeneration. Clcn3−/− mice display severe neurodegeneration, whereas heterozygous Clcn3+/− mice appear normal.

Patch-clamp studies were used to investigate four of the missense variants. These suggested a gain of function in two variants with increased current in HEK cells, however they also showed reduced rectification of voltage and a loss of transient current, plus decreased current amplitude, glycosylation and surface expression when expressed in oocytes, and were suspected to interfere with channel gating and a negative feedback mechanism. These effects were also shown to vary depending on pH levels. The current of the remaining two variants did not differ from WT. For heterozygous missense variants, the disruption induced may be at least partially conferred to mutant/WT homodimers and mutant/ClC-4 heterodimers.

Both loss and gain of function in this gene resulted in the same phenotype.
Sources: Literature
Callosome v0.307 DPYSL5 Zornitza Stark Phenotypes for gene: DPYSL5 were changed from Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities to Ritscher-Schinzel syndrome 4, MIM# 619435; Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Callosome v0.306 DPYSL5 Zornitza Stark edited their review of gene: DPYSL5: Changed phenotypes: Ritscher-Schinzel syndrome 4, MIM# 619435, Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Callosome v0.306 ZNF148 Zornitza Stark Marked gene: ZNF148 as ready
Callosome v0.306 ZNF148 Zornitza Stark Gene: znf148 has been classified as Green List (High Evidence).
Callosome v0.306 ZNF148 Zornitza Stark Classified gene: ZNF148 as Green List (high evidence)
Callosome v0.306 ZNF148 Zornitza Stark Gene: znf148 has been classified as Green List (High Evidence).
Callosome v0.305 ZNF148 Zornitza Stark gene: ZNF148 was added
gene: ZNF148 was added to Callosome. Sources: Literature
Mode of inheritance for gene: ZNF148 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF148 were set to 27964749
Phenotypes for gene: ZNF148 were set to Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; MIM#617260
Review for gene: ZNF148 was set to GREEN
Added comment: Four unrelated individuals with de novo heterozygous nonsense or frameshift mutations (all resulting in premature termination codons in the last exon of ZNF148, predicted to escape nonsense-mediated mRNA decay and result in expression of a truncated protein). Phenotype characterised by underdevelopment of the corpus callosum, mild to moderate developmental delay and ID, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations. No functional studies to date.
Sources: Literature
Callosome v0.304 HID1 Zornitza Stark Classified gene: HID1 as Green List (high evidence)
Callosome v0.304 HID1 Zornitza Stark Gene: hid1 has been classified as Green List (High Evidence).
Callosome v0.303 HID1 Zornitza Stark gene: HID1 was added
gene: HID1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: HID1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HID1 were set to 33999436
Phenotypes for gene: HID1 were set to Syndromic infantile encephalopathy; Hypopituitarism
Review for gene: HID1 was set to GREEN
Added comment: 7 individuals from 6 unrelated families reported. Clinical features included: hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy
Sources: Literature
Callosome v0.302 PPP2R1A Zornitza Stark Marked gene: PPP2R1A as ready
Callosome v0.302 PPP2R1A Zornitza Stark Gene: ppp2r1a has been classified as Green List (High Evidence).
Callosome v0.302 PPP2R1A Zornitza Stark Phenotypes for gene: PPP2R1A were changed from to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605
Callosome v0.301 PPP2R1A Zornitza Stark Publications for gene: PPP2R1A were set to
Callosome v0.300 PPP2R1A Zornitza Stark Mode of inheritance for gene: PPP2R1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.299 PPP2R1A Zornitza Stark reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168268, 33106617; Phenotypes: Mental retardation, autosomal dominant 36, MIM#616362, Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.299 ROBO2 Bryony Thompson Tag for review tag was added to gene: ROBO2.
Callosome v0.299 BCAS3 Sue White Marked gene: BCAS3 as ready
Callosome v0.299 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Callosome v0.299 BCAS3 Sue White Classified gene: BCAS3 as Green List (high evidence)
Callosome v0.299 BCAS3 Sue White Gene: bcas3 has been classified as Green List (High Evidence).
Callosome v0.298 BCAS3 Paul De Fazio edited their review of gene: BCAS3: Changed rating: GREEN
Callosome v0.298 BCAS3 Paul De Fazio gene: BCAS3 was added
gene: BCAS3 was added to Callosome. Sources: Literature
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Syndromic neurodevelopmental disorder
gene: BCAS3 was marked as current diagnostic
Added comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein.

Most patients had thin corpus callosum.
Sources: Literature
Callosome v0.298 ZEB2 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB2.
Callosome v0.298 ZEB2 Zornitza Stark Marked gene: ZEB2 as ready
Callosome v0.298 ZEB2 Zornitza Stark Gene: zeb2 has been classified as Green List (High Evidence).
Callosome v0.298 ZEB2 Zornitza Stark Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341
Callosome v0.297 ZEB2 Zornitza Stark Publications for gene: ZEB2 were set to
Callosome v0.296 ZEB2 Zornitza Stark Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.295 ZEB2 Zornitza Stark reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.295 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Callosome v0.295 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Callosome v0.295 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477
Callosome v0.294 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to
Callosome v0.293 SPTAN1 Zornitza Stark Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.292 SPTAN1 Zornitza Stark Classified gene: SPTAN1 as Amber List (moderate evidence)
Callosome v0.292 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Amber List (Moderate Evidence).
Callosome v0.291 SPTAN1 Zornitza Stark reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20493457, 22258530, 32811770; Phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.291 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Callosome v0.291 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Callosome v0.291 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Callosome v0.290 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Callosome v0.289 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.288 NDUFB3 Zornitza Stark Classified gene: NDUFB3 as Red List (low evidence)
Callosome v0.288 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Red List (Low Evidence).
Callosome v0.287 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.287 DPYSL5 Zornitza Stark Marked gene: DPYSL5 as ready
Callosome v0.287 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Callosome v0.287 DPYSL5 Zornitza Stark Classified gene: DPYSL5 as Green List (high evidence)
Callosome v0.287 DPYSL5 Zornitza Stark Gene: dpysl5 has been classified as Green List (High Evidence).
Callosome v0.286 DPYSL5 Zornitza Stark gene: DPYSL5 was added
gene: DPYSL5 was added to Callosome. Sources: Literature
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Review for gene: DPYSL5 was set to GREEN
Added comment: Nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability. The recurrent de novo p.Glu41Lys was found in eight unrelated patients, and a p.Gly47Arg variant was identified in one individual from the first family reported with Ritscher-Schinzel syndrome. Both impaired DPYSL5 function on dendritic outgrowth regulation by preventing the formation of the ternary complex with MAP2 and βIII-tubulin, ultimately leading to abnormal brain development.
Sources: Literature
Callosome v0.285 XPNPEP3 Zornitza Stark changed review comment from: 1 family with 3 sibs with a renal disease reminiscent of nephronophthisis.; to: 3 families reported but predominantly a renal ciliopathy phenotype.
Callosome v0.285 TGIF1 Zornitza Stark Marked gene: TGIF1 as ready
Callosome v0.285 TGIF1 Zornitza Stark Gene: tgif1 has been classified as Green List (High Evidence).
Callosome v0.285 TGIF1 Zornitza Stark Phenotypes for gene: TGIF1 were changed from to Holoprosencephaly 4, MIM# 142946; MONDO:0007734
Callosome v0.284 TGIF1 Zornitza Stark Publications for gene: TGIF1 were set to
Callosome v0.283 TGIF1 Zornitza Stark Mode of inheritance for gene: TGIF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.282 TGIF1 Zornitza Stark reviewed gene: TGIF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835638, 16323008; Phenotypes: Holoprosencephaly 4, MIM# 142946, MONDO:0007734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.282 NHEJ1 Zornitza Stark Marked gene: NHEJ1 as ready
Callosome v0.282 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Callosome v0.282 NHEJ1 Zornitza Stark Phenotypes for gene: NHEJ1 were changed from to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650
Callosome v0.281 NHEJ1 Zornitza Stark Publications for gene: NHEJ1 were set to
Callosome v0.280 NHEJ1 Zornitza Stark Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.279 NHEJ1 Zornitza Stark Classified gene: NHEJ1 as Red List (low evidence)
Callosome v0.279 NHEJ1 Zornitza Stark Gene: nhej1 has been classified as Red List (Low Evidence).
Callosome v0.278 NHEJ1 Zornitza Stark reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.278 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to 21617257
Callosome v0.277 NDUFA12 Zornitza Stark edited their review of gene: NDUFA12: Added comment: Additional 7 patients from 4 families reported in PMID 33715266: no corpus callosum abnormalities.; Changed publications: 21617257, 33715266
Callosome v0.277 WDR62 Zornitza Stark Marked gene: WDR62 as ready
Callosome v0.277 WDR62 Zornitza Stark Gene: wdr62 has been classified as Green List (High Evidence).
Callosome v0.277 WDR62 Zornitza Stark Phenotypes for gene: WDR62 were changed from to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317; MONDO:0011435
Callosome v0.276 WDR62 Zornitza Stark Publications for gene: WDR62 were set to
Callosome v0.275 WDR62 Zornitza Stark Mode of inheritance for gene: WDR62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.274 WDR62 Zornitza Stark reviewed gene: WDR62: Rating: GREEN; Mode of pathogenicity: None; Publications: 20890279, 20729831, 20890278, 21496009, 21834044, 22775483, 32677750, 31788460; Phenotypes: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317, MONDO:0011435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.274 PCNT Zornitza Stark Marked gene: PCNT as ready
Callosome v0.274 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Callosome v0.274 PCNT Zornitza Stark Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Callosome v0.273 PCNT Zornitza Stark Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.272 PCNT Zornitza Stark Classified gene: PCNT as Red List (low evidence)
Callosome v0.272 PCNT Zornitza Stark Gene: pcnt has been classified as Red List (Low Evidence).
Callosome v0.271 PCNT Zornitza Stark reviewed gene: PCNT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720, MONDO:0008872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.271 MCPH1 Zornitza Stark Marked gene: MCPH1 as ready
Callosome v0.271 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Callosome v0.271 MCPH1 Zornitza Stark Phenotypes for gene: MCPH1 were changed from to Microcephaly 1, primary, autosomal recessive, MIM# 251200; MONDO:0009617
Callosome v0.270 MCPH1 Zornitza Stark Mode of inheritance for gene: MCPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.269 MCPH1 Zornitza Stark Classified gene: MCPH1 as Red List (low evidence)
Callosome v0.269 MCPH1 Zornitza Stark Gene: mcph1 has been classified as Red List (Low Evidence).
Callosome v0.268 MCPH1 Zornitza Stark reviewed gene: MCPH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 1, primary, autosomal recessive, MIM# 251200, MONDO:0009617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.268 KIF11 Zornitza Stark Marked gene: KIF11 as ready
Callosome v0.268 KIF11 Zornitza Stark Gene: kif11 has been classified as Red List (Low Evidence).
Callosome v0.268 KIF11 Zornitza Stark Phenotypes for gene: KIF11 were changed from to Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950; MONDO:0007918
Callosome v0.267 KIF11 Zornitza Stark Mode of inheritance for gene: KIF11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.266 KIF11 Zornitza Stark Classified gene: KIF11 as Red List (low evidence)
Callosome v0.266 KIF11 Zornitza Stark Gene: kif11 has been classified as Red List (Low Evidence).
Callosome v0.265 KIF11 Zornitza Stark reviewed gene: KIF11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950, MONDO:0007918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.265 CEP152 Zornitza Stark Marked gene: CEP152 as ready
Callosome v0.265 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Callosome v0.265 CEP152 Zornitza Stark Phenotypes for gene: CEP152 were changed from to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443
Callosome v0.264 CEP152 Zornitza Stark Publications for gene: CEP152 were set to
Callosome v0.263 CEP152 Zornitza Stark Mode of inheritance for gene: CEP152 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.262 CEP152 Zornitza Stark Classified gene: CEP152 as Red List (low evidence)
Callosome v0.262 CEP152 Zornitza Stark Gene: cep152 has been classified as Red List (Low Evidence).
Callosome v0.261 CEP152 Zornitza Stark changed review comment from: Corpus callosum abnoramalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.; to: Corpus callosum abnormalities are not a prominent feature of these conditions, rather reduced brain size and simplified gyral pattern.
Callosome v0.261 CEP152 Zornitza Stark reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.261 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Callosome v0.261 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Callosome v0.261 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from to Spastic paraplegia 50, autosomal recessive, MIM# 612936
Callosome v0.260 AP4M1 Zornitza Stark Publications for gene: AP4M1 were set to
Callosome v0.259 AP4M1 Zornitza Stark Mode of inheritance for gene: AP4M1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.258 AP4M1 Zornitza Stark Classified gene: AP4M1 as Red List (low evidence)
Callosome v0.258 AP4M1 Zornitza Stark Gene: ap4m1 has been classified as Red List (Low Evidence).
Callosome v0.257 AP4M1 Zornitza Stark reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.257 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
Callosome v0.257 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Callosome v0.257 AP4B1 Zornitza Stark Phenotypes for gene: AP4B1 were changed from to Spastic paraplegia 47, autosomal recessive, MIM# 614066
Callosome v0.256 AP4B1 Zornitza Stark Publications for gene: AP4B1 were set to
Callosome v0.255 AP4B1 Zornitza Stark Mode of inheritance for gene: AP4B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.254 AP4B1 Zornitza Stark Classified gene: AP4B1 as Red List (low evidence)
Callosome v0.254 AP4B1 Zornitza Stark Gene: ap4b1 has been classified as Red List (Low Evidence).
Callosome v0.253 AP4B1 Zornitza Stark reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: 21620353, 22290197, 24700674, 24781758, 32979048, 32171285, 32166732, 31525725, 31525725; Phenotypes: Spastic paraplegia 47, autosomal recessive, MIM# 614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.253 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Callosome v0.253 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Callosome v0.253 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
Callosome v0.252 CDK5RAP2 Zornitza Stark Publications for gene: CDK5RAP2 were set to
Callosome v0.251 CDK5RAP2 Zornitza Stark Mode of inheritance for gene: CDK5RAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.250 CDK5RAP2 Zornitza Stark Classified gene: CDK5RAP2 as Red List (low evidence)
Callosome v0.250 CDK5RAP2 Zornitza Stark Gene: cdk5rap2 has been classified as Red List (Low Evidence).
Callosome v0.249 CDK5RAP2 Zornitza Stark reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.249 UBE3B Zornitza Stark Phenotypes for gene: UBE3B were changed from Blepharophimosis; intellectual disability to Kaufman oculocerebrofacial syndrome, MIM# 244450; Blepharophimosis; intellectual disability
Callosome v0.248 UBE3B Zornitza Stark reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.248 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.248 UBE3B Tiong Tan Added comment: Comment on list classification: Reviewed
Callosome v0.248 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.248 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.248 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.247 UBE3B Tiong Tan Classified gene: UBE3B as Green List (high evidence)
Callosome v0.247 UBE3B Tiong Tan Gene: ube3b has been classified as Green List (High Evidence).
Callosome v0.246 UBE3B Tiong Tan Marked gene: UBE3B as ready
Callosome v0.246 UBE3B Tiong Tan Gene: ube3b has been classified as Red List (Low Evidence).
Callosome v0.246 UBE3B Tiong Tan gene: UBE3B was added
gene: UBE3B was added to Callosome. Sources: Literature
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3B were set to 32949109
Phenotypes for gene: UBE3B were set to Blepharophimosis; intellectual disability
Penetrance for gene: UBE3B were set to Complete
Added comment: 7 patients with UBE3B syndrome and callosal anomalies - hypoplasia and agenesis
Sources: Literature
Callosome v0.245 KIF27 Zornitza Stark Marked gene: KIF27 as ready
Callosome v0.245 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Callosome v0.245 KIF27 Zornitza Stark Classified gene: KIF27 as Red List (low evidence)
Callosome v0.245 KIF27 Zornitza Stark Gene: kif27 has been classified as Red List (Low Evidence).
Callosome v0.244 KIF27 Anna Le Fevre reviewed gene: KIF27: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Callosome v0.244 ZEB1 Zornitza Stark Marked gene: ZEB1 as ready
Callosome v0.244 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence).
Callosome v0.244 ZEB1 Zornitza Stark Phenotypes for gene: ZEB1 were changed from to Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270; Corneal dystrophy, posterior polymorphous, 3, MIM# 609141; Corpus callosum abnormalities
Callosome v0.243 ZEB1 Zornitza Stark Publications for gene: ZEB1 were set to
Callosome v0.242 ZEB1 Zornitza Stark Mode of inheritance for gene: ZEB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.241 ZEB1 Zornitza Stark Classified gene: ZEB1 as Amber List (moderate evidence)
Callosome v0.241 ZEB1 Zornitza Stark Gene: zeb1 has been classified as Amber List (Moderate Evidence).
Callosome v0.240 ZEB1 Zornitza Stark Tag SV/CNV tag was added to gene: ZEB1.
Callosome v0.240 ZEB1 Zornitza Stark reviewed gene: ZEB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24780443, 28284480, 28742278; Phenotypes: Corneal dystrophy, Fuchs endothelial, 6, MIM# 613270, Corneal dystrophy, posterior polymorphous, 3, MIM# 609141, Corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.240 VAX1 Zornitza Stark Marked gene: VAX1 as ready
Callosome v0.240 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Callosome v0.240 VAX1 Zornitza Stark Phenotypes for gene: VAX1 were changed from to Microphthalmia, syndromic 11, MIM# 614402
Callosome v0.239 VAX1 Zornitza Stark Publications for gene: VAX1 were set to
Callosome v0.238 VAX1 Zornitza Stark Mode of inheritance for gene: VAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.237 VAX1 Zornitza Stark Classified gene: VAX1 as Red List (low evidence)
Callosome v0.237 VAX1 Zornitza Stark Gene: vax1 has been classified as Red List (Low Evidence).
Callosome v0.236 VAX1 Zornitza Stark reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: None; Publications: 22095910; Phenotypes: Microphthalmia, syndromic 11, MIM# 614402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.236 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Callosome v0.235 CHSY1 Zornitza Stark Marked gene: CHSY1 as ready
Callosome v0.235 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Red List (Low Evidence).
Callosome v0.235 CHSY1 Zornitza Stark Phenotypes for gene: CHSY1 were changed from to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Callosome v0.234 CHSY1 Zornitza Stark Publications for gene: CHSY1 were set to
Callosome v0.233 CHSY1 Zornitza Stark Mode of inheritance for gene: CHSY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.232 CHSY1 Zornitza Stark Classified gene: CHSY1 as Red List (low evidence)
Callosome v0.232 CHSY1 Zornitza Stark Gene: chsy1 has been classified as Red List (Low Evidence).
Callosome v0.231 CHSY1 Zornitza Stark reviewed gene: CHSY1: Rating: RED; Mode of pathogenicity: None; Publications: 21129728, 21129727, 24269551; Phenotypes: Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533, CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.231 PIGA Zornitza Stark Marked gene: PIGA as ready
Callosome v0.231 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Callosome v0.231 PIGA Zornitza Stark Phenotypes for gene: PIGA were changed from to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466
Callosome v0.230 PIGA Zornitza Stark Mode of inheritance for gene: PIGA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.229 PIGA Zornitza Stark Classified gene: PIGA as Red List (low evidence)
Callosome v0.229 PIGA Zornitza Stark Gene: piga has been classified as Red List (Low Evidence).
Callosome v0.228 PIGA Zornitza Stark reviewed gene: PIGA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.228 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Callosome v0.227 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Callosome v0.227 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Callosome v0.227 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Callosome v0.227 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from to Congenital disorder of glycosylation, type Ic (MIM#603147)
Callosome v0.226 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Callosome v0.225 ALG6 Zornitza Stark Mode of inheritance for gene: ALG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.224 ALG6 Zornitza Stark Classified gene: ALG6 as Red List (low evidence)
Callosome v0.224 ALG6 Zornitza Stark Gene: alg6 has been classified as Red List (Low Evidence).
Callosome v0.223 ALG6 Zornitza Stark reviewed gene: ALG6: Rating: RED; Mode of pathogenicity: None; Publications: 10914684, 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.223 EPG5 Zornitza Stark Marked gene: EPG5 as ready
Callosome v0.223 EPG5 Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence).
Callosome v0.223 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from Vici syndrome, MIM# 242840 to Vici syndrome, MIM# 242840
Callosome v0.223 EPG5 Zornitza Stark Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840
Callosome v0.222 EPG5 Zornitza Stark Publications for gene: EPG5 were set to
Callosome v0.221 EPG5 Zornitza Stark Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.220 EPG5 Zornitza Stark reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.220 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Callosome v0.220 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Callosome v0.220 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Callosome v0.220 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Callosome v0.219 SHMT2 Zornitza Stark gene: SHMT2 was added
gene: SHMT2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Review for gene: SHMT2 was set to GREEN
Added comment: García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.

Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.

SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.

While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.

Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.

The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity).
Sources: Literature
Callosome v0.218 GPSM2 Zornitza Stark Marked gene: GPSM2 as ready
Callosome v0.218 GPSM2 Zornitza Stark Gene: gpsm2 has been classified as Green List (High Evidence).
Callosome v0.218 GPSM2 Zornitza Stark Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM# 604213
Callosome v0.217 GPSM2 Zornitza Stark Publications for gene: GPSM2 were set to
Callosome v0.216 GPSM2 Zornitza Stark Mode of inheritance for gene: GPSM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.215 GPSM2 Zornitza Stark reviewed gene: GPSM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20602914, 22578326, 28387217, 27180139, 27064331; Phenotypes: Chudley-McCullough syndrome, MIM# 604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.215 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Callosome v0.215 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Callosome v0.215 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Callosome v0.214 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Callosome v0.213 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.212 NR2F1 Zornitza Stark Classified gene: NR2F1 as Red List (low evidence)
Callosome v0.212 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Red List (Low Evidence).
Callosome v0.211 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.211 EXOSC5 Zornitza Stark Marked gene: EXOSC5 as ready
Callosome v0.211 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Red List (Low Evidence).
Callosome v0.211 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from to Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Callosome v0.210 EXOSC5 Zornitza Stark Publications for gene: EXOSC5 were set to
Callosome v0.209 EXOSC5 Zornitza Stark Classified gene: EXOSC5 as Red List (low evidence)
Callosome v0.209 EXOSC5 Zornitza Stark Gene: exosc5 has been classified as Red List (Low Evidence).
Callosome v0.208 EXOSC5 Zornitza Stark reviewed gene: EXOSC5: Rating: RED; Mode of pathogenicity: None; Publications: 32504085, 29302074; Phenotypes: Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia; Mode of inheritance: None
Callosome v0.208 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Callosome v0.208 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Callosome v0.208 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from to Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889; MONDO:0013570
Callosome v0.207 AARS2 Zornitza Stark Publications for gene: AARS2 were set to
Callosome v0.206 AARS2 Zornitza Stark Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.205 AARS2 Zornitza Stark Classified gene: AARS2 as Red List (low evidence)
Callosome v0.205 AARS2 Zornitza Stark Gene: aars2 has been classified as Red List (Low Evidence).
Callosome v0.204 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: RED; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Combined oxidative phosphorylation deficiency 8 MIM#614096, Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.204 PAFAH1B1 Zornitza Stark Tag SV/CNV tag was added to gene: PAFAH1B1.
Callosome v0.204 PAFAH1B1 Zornitza Stark Marked gene: PAFAH1B1 as ready
Callosome v0.204 PAFAH1B1 Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence).
Callosome v0.204 PAFAH1B1 Zornitza Stark Phenotypes for gene: PAFAH1B1 were changed from to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830
Callosome v0.203 PAFAH1B1 Zornitza Stark Publications for gene: PAFAH1B1 were set to
Callosome v0.202 PAFAH1B1 Zornitza Stark Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.201 PAFAH1B1 Zornitza Stark reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.201 KIF5C Zornitza Stark Marked gene: KIF5C as ready
Callosome v0.201 KIF5C Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence).
Callosome v0.201 KIF5C Zornitza Stark Phenotypes for gene: KIF5C were changed from to Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282
Callosome v0.200 KIF5C Zornitza Stark Publications for gene: KIF5C were set to
Callosome v0.199 KIF5C Zornitza Stark Mode of inheritance for gene: KIF5C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.198 KIF5C Zornitza Stark reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 23033978, 32562872; Phenotypes: Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.198 KIF2A Zornitza Stark Marked gene: KIF2A as ready
Callosome v0.198 KIF2A Zornitza Stark Gene: kif2a has been classified as Red List (Low Evidence).
Callosome v0.198 KIF2A Zornitza Stark Phenotypes for gene: KIF2A were changed from to Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411
Callosome v0.197 KIF2A Zornitza Stark Publications for gene: KIF2A were set to
Callosome v0.196 KIF2A Zornitza Stark Mode of inheritance for gene: KIF2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.195 KIF2A Zornitza Stark Classified gene: KIF2A as Red List (low evidence)
Callosome v0.195 KIF2A Zornitza Stark Gene: kif2a has been classified as Red List (Low Evidence).
Callosome v0.194 KIF2A Zornitza Stark reviewed gene: KIF2A: Rating: RED; Mode of pathogenicity: None; Publications: 23603762, 27896282, 27747449, 29077851, 31919497; Phenotypes: Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.194 DLL1 Zornitza Stark Marked gene: DLL1 as ready
Callosome v0.194 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Callosome v0.194 DLL1 Zornitza Stark Classified gene: DLL1 as Green List (high evidence)
Callosome v0.194 DLL1 Zornitza Stark Gene: dll1 has been classified as Green List (High Evidence).
Callosome v0.193 DLL1 Zornitza Stark gene: DLL1 was added
gene: DLL1 was added to Callosome. Sources: Expert list
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709
Review for gene: DLL1 was set to GREEN
Added comment: 14 individuals from 11 families reported. All 11 patients who underwent brain imaging showed nonspecific and variable abnormalities, including hydrocephalus, ventriculomegaly, thin, short, or dysplastic corpus callosum, subtle cortical dysplasia, and small cerebellum or pons. One patient had periventricular nodular heterotopia.
Sources: Expert list
Callosome v0.192 ABAT Zornitza Stark Marked gene: ABAT as ready
Callosome v0.192 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Callosome v0.192 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163
Callosome v0.191 ABAT Zornitza Stark Publications for gene: ABAT were set to
Callosome v0.190 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.189 ABAT Zornitza Stark Classified gene: ABAT as Red List (low evidence)
Callosome v0.189 ABAT Zornitza Stark Gene: abat has been classified as Red List (Low Evidence).
Callosome v0.188 ABAT Zornitza Stark changed review comment from: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype; to: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype. However, predominant MRI finding is that of abnormal myelination. In a series of 10 individuals in PMID 28411234, none had CC abnormalities. CC abnormalities appear to have only been reported in a single individual in PMID 10407778.
Callosome v0.188 ABAT Zornitza Stark edited their review of gene: ABAT: Changed rating: RED; Changed publications: 10407778, 20052547, 27596361, 28411234
Callosome v0.188 EPHB2 Zornitza Stark changed review comment from: Cannot find evidence of gene-disease association in humans.; to: Experimental evidence for a role of Ephb2 in corpus callosum formation but cannot find reports of variants linking to CC abnormalities in humans.
Callosome v0.188 EPHB2 Zornitza Stark Marked gene: EPHB2 as ready
Callosome v0.188 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Red List (Low Evidence).
Callosome v0.188 EPHB2 Zornitza Stark Publications for gene: EPHB2 were set to
Callosome v0.187 EPHB2 Zornitza Stark Classified gene: EPHB2 as Red List (low evidence)
Callosome v0.187 EPHB2 Zornitza Stark Gene: ephb2 has been classified as Red List (Low Evidence).
Callosome v0.186 EPHB2 Zornitza Stark reviewed gene: EPHB2: Rating: RED; Mode of pathogenicity: None; Publications: 26148571; Phenotypes: ; Mode of inheritance: None
Callosome v0.186 B3GNT2 Zornitza Stark changed review comment from: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; to: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities observed in only one of four affected sibs in the other family.
Callosome v0.186 B3GNT2 Zornitza Stark Phenotypes for gene: B3GNT2 were changed from to Muscular dystrophy-dystroglycanopathy
Callosome v0.185 B3GNT2 Zornitza Stark Publications for gene: B3GNT2 were set to
Callosome v0.184 B3GNT2 Zornitza Stark Mode of inheritance for gene: B3GNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.183 B3GNT2 Zornitza Stark edited their review of gene: B3GNT2: Added comment: Gene previously known as B3GNT1. Two families reported. The brain phenotype in one of the families was anencephaly, and CC abnormalities not mentioned in the other.; Changed publications: 23359570, 23877401; Changed phenotypes: Muscular dystrophy-dystroglycanopathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.183 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Callosome v0.183 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Callosome v0.183 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Callosome v0.182 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Callosome v0.181 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.180 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Callosome v0.180 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Callosome v0.179 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.179 BCOR Zornitza Stark Marked gene: BCOR as ready
Callosome v0.179 BCOR Zornitza Stark Gene: bcor has been classified as Red List (Low Evidence).
Callosome v0.179 BCOR Zornitza Stark Phenotypes for gene: BCOR were changed from to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia
Callosome v0.178 BCOR Zornitza Stark Publications for gene: BCOR were set to
Callosome v0.177 BCOR Zornitza Stark Mode of inheritance for gene: BCOR 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)
Callosome v0.176 BCOR Zornitza Stark Classified gene: BCOR as Red List (low evidence)
Callosome v0.176 BCOR Zornitza Stark Gene: bcor has been classified as Red List (Low Evidence).
Callosome v0.175 BCOR Zornitza Stark reviewed gene: BCOR: Rating: RED; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Callosome v0.175 ASPM Zornitza Stark Marked gene: ASPM as ready
Callosome v0.175 ASPM Zornitza Stark Gene: aspm has been classified as Green List (High Evidence).
Callosome v0.175 ASPM Zornitza Stark Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716
Callosome v0.174 ASPM Zornitza Stark Publications for gene: ASPM were set to
Callosome v0.173 ASPM Zornitza Stark Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.172 ASPM Zornitza Stark reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29243349, 19028728; Phenotypes: Microcephaly 5, primary, autosomal recessive, MIM#608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.172 NSMF Zornitza Stark Marked gene: NSMF as ready
Callosome v0.172 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Callosome v0.172 NSMF Zornitza Stark Phenotypes for gene: NSMF were changed from to Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Callosome v0.171 NSMF Zornitza Stark Mode of inheritance for gene: NSMF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.170 NSMF Zornitza Stark Classified gene: NSMF as Red List (low evidence)
Callosome v0.170 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Callosome v0.169 NSMF Zornitza Stark reviewed gene: NSMF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.169 SPRY4 Zornitza Stark Marked gene: SPRY4 as ready
Callosome v0.169 SPRY4 Zornitza Stark Gene: spry4 has been classified as Red List (Low Evidence).
Callosome v0.169 SPRY4 Zornitza Stark Phenotypes for gene: SPRY4 were changed from to Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266
Callosome v0.168 SPRY4 Zornitza Stark Publications for gene: SPRY4 were set to
Callosome v0.167 SPRY4 Zornitza Stark Mode of inheritance for gene: SPRY4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.166 SPRY4 Zornitza Stark Classified gene: SPRY4 as Red List (low evidence)
Callosome v0.166 SPRY4 Zornitza Stark Gene: spry4 has been classified as Red List (Low Evidence).
Callosome v0.165 SPRY4 Zornitza Stark reviewed gene: SPRY4: Rating: RED; Mode of pathogenicity: None; Publications: 23643382; Phenotypes: Hypogonadotropic hypogonadism 17 with or without anosmia, MIM# 615266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.165 KISS1 Zornitza Stark Marked gene: KISS1 as ready
Callosome v0.165 KISS1 Zornitza Stark Gene: kiss1 has been classified as Red List (Low Evidence).
Callosome v0.165 KISS1 Zornitza Stark Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842
Callosome v0.164 KISS1 Zornitza Stark Publications for gene: KISS1 were set to
Callosome v0.163 KISS1 Zornitza Stark Mode of inheritance for gene: KISS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.162 KISS1 Zornitza Stark Classified gene: KISS1 as Red List (low evidence)
Callosome v0.162 KISS1 Zornitza Stark Gene: kiss1 has been classified as Red List (Low Evidence).
Callosome v0.161 KISS1 Zornitza Stark reviewed gene: KISS1: Rating: RED; Mode of pathogenicity: None; Publications: 22335740, 25783047, 22766261, 17563351; Phenotypes: Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.161 IL17RD Zornitza Stark Marked gene: IL17RD as ready
Callosome v0.161 IL17RD Zornitza Stark Gene: il17rd has been classified as Red List (Low Evidence).
Callosome v0.161 IL17RD Zornitza Stark Phenotypes for gene: IL17RD were changed from to Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267
Callosome v0.160 IL17RD Zornitza Stark Classified gene: IL17RD as Red List (low evidence)
Callosome v0.160 IL17RD Zornitza Stark Gene: il17rd has been classified as Red List (Low Evidence).
Callosome v0.159 IL17RD Zornitza Stark reviewed gene: IL17RD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 18 with or without anosmia, MIM# 615267; Mode of inheritance: None
Callosome v0.159 HS6ST1 Zornitza Stark Marked gene: HS6ST1 as ready
Callosome v0.159 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Callosome v0.159 HS6ST1 Zornitza Stark Phenotypes for gene: HS6ST1 were changed from to {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880
Callosome v0.158 HS6ST1 Zornitza Stark Publications for gene: HS6ST1 were set to
Callosome v0.157 HS6ST1 Zornitza Stark Mode of inheritance for gene: HS6ST1 was changed from Unknown to Other
Callosome v0.156 HS6ST1 Zornitza Stark Classified gene: HS6ST1 as Red List (low evidence)
Callosome v0.156 HS6ST1 Zornitza Stark Gene: hs6st1 has been classified as Red List (Low Evidence).
Callosome v0.155 HS6ST1 Zornitza Stark reviewed gene: HS6ST1: Rating: RED; Mode of pathogenicity: None; Publications: 21700882; Phenotypes: {Hypogonadotropic hypogonadism 15 with or without anosmia} 614880; Mode of inheritance: Other
Callosome v0.155 GNRH1 Zornitza Stark Marked gene: GNRH1 as ready
Callosome v0.155 GNRH1 Zornitza Stark Gene: gnrh1 has been classified as Red List (Low Evidence).
Callosome v0.155 GNRH1 Zornitza Stark Phenotypes for gene: GNRH1 were changed from to Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841
Callosome v0.154 GNRH1 Zornitza Stark Mode of inheritance for gene: GNRH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.153 GNRH1 Zornitza Stark Classified gene: GNRH1 as Red List (low evidence)
Callosome v0.153 GNRH1 Zornitza Stark Gene: gnrh1 has been classified as Red List (Low Evidence).
Callosome v0.152 GNRH1 Zornitza Stark reviewed gene: GNRH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.152 FLRT3 Zornitza Stark Marked gene: FLRT3 as ready
Callosome v0.152 FLRT3 Zornitza Stark Gene: flrt3 has been classified as Red List (Low Evidence).
Callosome v0.152 FLRT3 Zornitza Stark Phenotypes for gene: FLRT3 were changed from to Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)
Callosome v0.151 FLRT3 Zornitza Stark Publications for gene: FLRT3 were set to
Callosome v0.150 FLRT3 Zornitza Stark Mode of inheritance for gene: FLRT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.149 FLRT3 Zornitza Stark Classified gene: FLRT3 as Red List (low evidence)
Callosome v0.149 FLRT3 Zornitza Stark Gene: flrt3 has been classified as Red List (Low Evidence).
Callosome v0.148 FLRT3 Zornitza Stark reviewed gene: FLRT3: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 31200363; Phenotypes: Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.148 CDH2 Zornitza Stark Phenotypes for gene: CDH2 were changed from Intellectual disability; corpus callosum abnormalities; congenital abnormalities to Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929
Callosome v0.147 CDH2 Zornitza Stark edited their review of gene: CDH2: Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929
Callosome v0.147 SMO Zornitza Stark Tag somatic tag was added to gene: SMO.
Callosome v0.147 SMO Zornitza Stark Marked gene: SMO as ready
Callosome v0.147 SMO Zornitza Stark Gene: smo has been classified as Green List (High Evidence).
Callosome v0.147 SMO Zornitza Stark Phenotypes for gene: SMO were changed from to Curry-Jones syndrome, somatic mosaic 601707
Callosome v0.146 SMO Zornitza Stark Publications for gene: SMO were set to
Callosome v0.145 SMO Zornitza Stark Mode of inheritance for gene: SMO was changed from Unknown to Other
Callosome v0.144 SMO Zornitza Stark reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236920; Phenotypes: Curry-Jones syndrome, somatic mosaic 601707; Mode of inheritance: Other
Callosome v0.144 ARMC1 Zornitza Stark Marked gene: ARMC1 as ready
Callosome v0.144 ARMC1 Zornitza Stark Gene: armc1 has been classified as Red List (Low Evidence).
Callosome v0.144 ARMC1 Zornitza Stark Classified gene: ARMC1 as Red List (low evidence)
Callosome v0.144 ARMC1 Zornitza Stark Gene: armc1 has been classified as Red List (Low Evidence).
Callosome v0.143 ARMC1 Zornitza Stark reviewed gene: ARMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.143 ERBB2 Zornitza Stark Marked gene: ERBB2 as ready
Callosome v0.143 ERBB2 Zornitza Stark Gene: erbb2 has been classified as Red List (Low Evidence).
Callosome v0.143 ERBB2 Zornitza Stark Classified gene: ERBB2 as Red List (low evidence)
Callosome v0.143 ERBB2 Zornitza Stark Gene: erbb2 has been classified as Red List (Low Evidence).
Callosome v0.142 ERBB2 Zornitza Stark reviewed gene: ERBB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.142 EMX2 Zornitza Stark Marked gene: EMX2 as ready
Callosome v0.142 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.142 EMX2 Zornitza Stark Phenotypes for gene: EMX2 were changed from to Schizencephaly, MIM# 269160
Callosome v0.141 EMX2 Zornitza Stark Publications for gene: EMX2 were set to 8528262; 9359037; 9153481; 9153481; 18409201
Callosome v0.140 EMX2 Zornitza Stark Publications for gene: EMX2 were set to
Callosome v0.139 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Callosome v0.139 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.139 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Callosome v0.139 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Callosome v0.138 EMX2 Zornitza Stark reviewed gene: EMX2: Rating: RED; Mode of pathogenicity: None; Publications: 8528262, 9359037, 9153481, 9153481, 18409201; Phenotypes: Schizencephaly, MIM# 269160; Mode of inheritance: None
Callosome v0.138 CDK5 Zornitza Stark Marked gene: CDK5 as ready
Callosome v0.138 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Callosome v0.138 CDK5 Zornitza Stark Phenotypes for gene: CDK5 were changed from to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342
Callosome v0.137 CDK5 Zornitza Stark Publications for gene: CDK5 were set to
Callosome v0.136 CDK5 Zornitza Stark Mode of inheritance for gene: CDK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.135 CDK5 Zornitza Stark Classified gene: CDK5 as Red List (low evidence)
Callosome v0.135 CDK5 Zornitza Stark Gene: cdk5 has been classified as Red List (Low Evidence).
Callosome v0.134 CDK5 Zornitza Stark reviewed gene: CDK5: Rating: RED; Mode of pathogenicity: None; Publications: 25560765; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.134 B4GAT1 Zornitza Stark edited their review of gene: B4GAT1: Changed rating: GREEN
Callosome v0.134 B4GAT1 Zornitza Stark changed review comment from: Two families reported.; to: Two families reported and two animal models.
Callosome v0.134 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742
Callosome v0.133 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401; 23359570; 23217742
Callosome v0.132 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Green List (high evidence)
Callosome v0.132 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Green List (High Evidence).
Callosome v0.132 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to 23359570; 23877401
Callosome v0.131 B4GAT1 Zornitza Stark Marked gene: B4GAT1 as ready
Callosome v0.131 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Callosome v0.131 B4GAT1 Zornitza Stark Phenotypes for gene: B4GAT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287
Callosome v0.130 B4GAT1 Zornitza Stark Publications for gene: B4GAT1 were set to
Callosome v0.129 B4GAT1 Zornitza Stark Mode of inheritance for gene: B4GAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.128 B4GAT1 Zornitza Stark Classified gene: B4GAT1 as Amber List (moderate evidence)
Callosome v0.128 B4GAT1 Zornitza Stark Gene: b4gat1 has been classified as Amber List (Moderate Evidence).
Callosome v0.127 B4GAT1 Zornitza Stark reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23359570, 23877401; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.127 TSEN34 Zornitza Stark Marked gene: TSEN34 as ready
Callosome v0.127 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.127 TSEN34 Zornitza Stark Phenotypes for gene: TSEN34 were changed from to Pontocerebellar hypoplasia type 2C, MIM# 612390
Callosome v0.126 TSEN34 Zornitza Stark Publications for gene: TSEN34 were set to
Callosome v0.125 TSEN34 Zornitza Stark Mode of inheritance for gene: TSEN34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.124 TSEN34 Zornitza Stark Classified gene: TSEN34 as Red List (low evidence)
Callosome v0.124 TSEN34 Zornitza Stark Gene: tsen34 has been classified as Red List (Low Evidence).
Callosome v0.123 TSEN34 Zornitza Stark reviewed gene: TSEN34: Rating: RED; Mode of pathogenicity: None; Publications: 18711368; Phenotypes: Pontocerebellar hypoplasia type 2C, MIM# 612390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.123 PROKR2 Zornitza Stark Marked gene: PROKR2 as ready
Callosome v0.123 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Amber List (Moderate Evidence).
Callosome v0.123 PROKR2 Zornitza Stark Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200
Callosome v0.122 PROKR2 Zornitza Stark Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.121 PROKR2 Zornitza Stark Classified gene: PROKR2 as Amber List (moderate evidence)
Callosome v0.121 PROKR2 Zornitza Stark Gene: prokr2 has been classified as Amber List (Moderate Evidence).
Callosome v0.120 PROKR2 Zornitza Stark reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Callosome v0.120 PMS2 Zornitza Stark Marked gene: PMS2 as ready
Callosome v0.120 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Callosome v0.120 PMS2 Zornitza Stark Phenotypes for gene: PMS2 were changed from to Mismatch repair cancer syndrome, MIM# 276300
Callosome v0.119 PMS2 Zornitza Stark Publications for gene: PMS2 were set to
Callosome v0.118 PMS2 Zornitza Stark Mode of inheritance for gene: PMS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.117 PMS2 Zornitza Stark Classified gene: PMS2 as Amber List (moderate evidence)
Callosome v0.117 PMS2 Zornitza Stark Gene: pms2 has been classified as Amber List (Moderate Evidence).
Callosome v0.116 PMS2 Zornitza Stark reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22692065; Phenotypes: Mismatch repair cancer syndrome, MIM# 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.116 ZNF462 Zornitza Stark Marked gene: ZNF462 as ready
Callosome v0.116 ZNF462 Zornitza Stark Gene: znf462 has been classified as Green List (High Evidence).
Callosome v0.116 ZNF462 Zornitza Stark Phenotypes for gene: ZNF462 were changed from to Weiss-Kruszka syndrome, MIM#618619
Callosome v0.115 ZNF462 Zornitza Stark Publications for gene: ZNF462 were set to
Callosome v0.114 ZNF462 Zornitza Stark Mode of inheritance for gene: ZNF462 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.113 ZNF462 Zornitza Stark reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, MIM#618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.113 UQCRQ Zornitza Stark Marked gene: UQCRQ as ready
Callosome v0.113 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Callosome v0.113 UQCRQ Zornitza Stark Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159
Callosome v0.112 UQCRQ Zornitza Stark Publications for gene: UQCRQ were set to
Callosome v0.111 UQCRQ Zornitza Stark Mode of inheritance for gene: UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.110 UQCRQ Zornitza Stark Classified gene: UQCRQ as Red List (low evidence)
Callosome v0.110 UQCRQ Zornitza Stark Gene: uqcrq has been classified as Red List (Low Evidence).
Callosome v0.109 UQCRQ Zornitza Stark reviewed gene: UQCRQ: Rating: RED; Mode of pathogenicity: None; Publications: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.109 SUPT16H Zornitza Stark Marked gene: SUPT16H as ready
Callosome v0.109 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Callosome v0.109 SUPT16H Zornitza Stark Classified gene: SUPT16H as Green List (high evidence)
Callosome v0.109 SUPT16H Zornitza Stark Gene: supt16h has been classified as Green List (High Evidence).
Callosome v0.108 SUPT16H Zornitza Stark gene: SUPT16H was added
gene: SUPT16H was added to Callosome. Sources: Literature
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUPT16H were set to 31924697
Phenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum
Review for gene: SUPT16H was set to GREEN
Added comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV.
Sources: Literature
Callosome v0.107 TRIO Zornitza Stark Marked gene: TRIO as ready
Callosome v0.107 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Callosome v0.107 TRIO Zornitza Stark Phenotypes for gene: TRIO were changed from to Mental retardation, autosomal dominant 44, MIM# 617061
Callosome v0.106 TRIO Zornitza Stark Publications for gene: TRIO were set to
Callosome v0.106 TRIO Zornitza Stark Mode of inheritance for gene: TRIO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.105 TRIO Zornitza Stark Classified gene: TRIO as Red List (low evidence)
Callosome v0.105 TRIO Zornitza Stark Gene: trio has been classified as Red List (Low Evidence).
Callosome v0.104 TRIO Zornitza Stark reviewed gene: TRIO: Rating: RED; Mode of pathogenicity: None; Publications: 26721934, 32109419; Phenotypes: Mental retardation, autosomal dominant 44, MIM# 617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.104 TBR1 Zornitza Stark Marked gene: TBR1 as ready
Callosome v0.104 TBR1 Zornitza Stark Gene: tbr1 has been classified as Red List (Low Evidence).
Callosome v0.104 TBR1 Zornitza Stark Phenotypes for gene: TBR1 were changed from to Intellectual developmental disorder with autism and speech delay, MIM# 606053
Callosome v0.103 TBR1 Zornitza Stark Publications for gene: TBR1 were set to
Callosome v0.102 TBR1 Zornitza Stark Mode of inheritance for gene: TBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.101 TBR1 Zornitza Stark Classified gene: TBR1 as Red List (low evidence)
Callosome v0.101 TBR1 Zornitza Stark Gene: tbr1 has been classified as Red List (Low Evidence).
Callosome v0.100 TBR1 Zornitza Stark reviewed gene: TBR1: Rating: RED; Mode of pathogenicity: None; Publications: 25232744, 30250039; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM# 606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.100 WNT3 Zornitza Stark Marked gene: WNT3 as ready
Callosome v0.100 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Callosome v0.100 WNT3 Zornitza Stark Phenotypes for gene: WNT3 were changed from to Tetra-amelia syndrome 1, MIM# 273395
Callosome v0.99 WNT3 Zornitza Stark Publications for gene: WNT3 were set to
Callosome v0.98 WNT3 Zornitza Stark Mode of inheritance for gene: WNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.97 WNT3 Zornitza Stark Classified gene: WNT3 as Red List (low evidence)
Callosome v0.97 WNT3 Zornitza Stark Gene: wnt3 has been classified as Red List (Low Evidence).
Callosome v0.96 WNT3 Zornitza Stark reviewed gene: WNT3: Rating: RED; Mode of pathogenicity: None; Publications: 14872406; Phenotypes: Tetra-amelia syndrome 1, MIM# 273395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.96 TUBA8 Zornitza Stark Marked gene: TUBA8 as ready
Callosome v0.96 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Callosome v0.96 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
Callosome v0.95 TUBA8 Zornitza Stark Publications for gene: TUBA8 were set to
Callosome v0.94 TUBA8 Zornitza Stark Mode of inheritance for gene: TUBA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.93 TUBA8 Zornitza Stark Classified gene: TUBA8 as Red List (low evidence)
Callosome v0.93 TUBA8 Zornitza Stark Gene: tuba8 has been classified as Red List (Low Evidence).
Callosome v0.92 TUBA8 Zornitza Stark reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 19896110, 31481326, 28388629; Phenotypes: Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.92 SNIP1 Zornitza Stark Marked gene: SNIP1 as ready
Callosome v0.92 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Callosome v0.92 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Callosome v0.92 SNIP1 Zornitza Stark Phenotypes for gene: SNIP1 were changed from to Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501
Callosome v0.91 SNIP1 Zornitza Stark Publications for gene: SNIP1 were set to
Callosome v0.90 SNIP1 Zornitza Stark Mode of inheritance for gene: SNIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.89 SNIP1 Zornitza Stark Classified gene: SNIP1 as Red List (low evidence)
Callosome v0.89 SNIP1 Zornitza Stark Gene: snip1 has been classified as Red List (Low Evidence).
Callosome v0.88 SNIP1 Zornitza Stark reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.88 SLIT2 Zornitza Stark Marked gene: SLIT2 as ready
Callosome v0.88 SLIT2 Zornitza Stark Gene: slit2 has been classified as Red List (Low Evidence).
Callosome v0.88 SLIT2 Zornitza Stark Publications for gene: SLIT2 were set to
Callosome v0.87 SLIT2 Zornitza Stark Classified gene: SLIT2 as Red List (low evidence)
Callosome v0.87 SLIT2 Zornitza Stark Gene: slit2 has been classified as Red List (Low Evidence).
Callosome v0.86 SLIT2 Zornitza Stark reviewed gene: SLIT2: Rating: RED; Mode of pathogenicity: None; Publications: 22349628; Phenotypes: ; Mode of inheritance: None
Callosome v0.86 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Callosome v0.85 PNPT1 Zornitza Stark Marked gene: PNPT1 as ready
Callosome v0.85 PNPT1 Zornitza Stark Gene: pnpt1 has been classified as Green List (High Evidence).
Callosome v0.85 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Callosome v0.85 PNPT1 Zornitza Stark Phenotypes for gene: PNPT1 were changed from to Combined oxidative phosphorylation deficiency 13 (MIM#614932)
Callosome v0.84 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to
Callosome v0.83 PNPT1 Zornitza Stark Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.82 PNPT1 Zornitza Stark reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.82 SOX3 Zornitza Stark Tag SV/CNV tag was added to gene: SOX3.
Callosome v0.82 SOX3 Zornitza Stark Marked gene: SOX3 as ready
Callosome v0.82 SOX3 Zornitza Stark Gene: sox3 has been classified as Red List (Low Evidence).
Callosome v0.82 SOX3 Zornitza Stark Phenotypes for gene: SOX3 were changed from to Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123; Panhypopituitarism, X-linked, MIM#312000
Callosome v0.81 SOX3 Zornitza Stark Publications for gene: SOX3 were set to
Callosome v0.80 SOX3 Zornitza Stark Mode of inheritance for gene: SOX3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.79 SOX3 Zornitza Stark Classified gene: SOX3 as Red List (low evidence)
Callosome v0.79 SOX3 Zornitza Stark Gene: sox3 has been classified as Red List (Low Evidence).
Callosome v0.78 SOX3 Zornitza Stark reviewed gene: SOX3: Rating: RED; Mode of pathogenicity: None; Publications: 29175558, 30125608, 12428212, 15800844; Phenotypes: Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123, Panhypopituitarism, X-linked, MIM#312000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.78 IGBP1 Zornitza Stark Marked gene: IGBP1 as ready
Callosome v0.78 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Callosome v0.78 IGBP1 Zornitza Stark Phenotypes for gene: IGBP1 were changed from to Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472
Callosome v0.77 IGBP1 Zornitza Stark Publications for gene: IGBP1 were set to
Callosome v0.76 IGBP1 Zornitza Stark Classified gene: IGBP1 as Red List (low evidence)
Callosome v0.76 IGBP1 Zornitza Stark Gene: igbp1 has been classified as Red List (Low Evidence).
Callosome v0.75 IGBP1 Zornitza Stark reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: 14556245; Phenotypes: Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.75 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Callosome v0.75 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Callosome v0.75 NDUFA12 Zornitza Stark Phenotypes for gene: NDUFA12 were changed from to Mitochondrial complex I deficiency, nuclear type 23 618244
Callosome v0.74 NDUFA12 Zornitza Stark Publications for gene: NDUFA12 were set to
Callosome v0.73 NDUFA12 Zornitza Stark Mode of inheritance for gene: NDUFA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.72 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Red List (low evidence)
Callosome v0.72 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Red List (Low Evidence).
Callosome v0.71 NDUFA12 Zornitza Stark reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: None; Publications: 21617257; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.71 DCC Zornitza Stark Marked gene: DCC as ready
Callosome v0.71 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Callosome v0.71 DCC Zornitza Stark Phenotypes for gene: DCC were changed from to Agenesis of the corpus callosum
Callosome v0.70 DCC Zornitza Stark Publications for gene: DCC were set to
Callosome v0.69 DCC Zornitza Stark Mode of inheritance for gene: DCC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.68 DCC Zornitza Stark reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31697046; Phenotypes: Agenesis of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.68 RBBP8 Zornitza Stark Marked gene: RBBP8 as ready
Callosome v0.68 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Red List (Low Evidence).
Callosome v0.68 RBBP8 Zornitza Stark Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744
Callosome v0.67 RBBP8 Zornitza Stark Publications for gene: RBBP8 were set to
Callosome v0.66 RBBP8 Zornitza Stark Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.65 RBBP8 Zornitza Stark Classified gene: RBBP8 as Red List (low evidence)
Callosome v0.65 RBBP8 Zornitza Stark Gene: rbbp8 has been classified as Red List (Low Evidence).
Callosome v0.64 RBBP8 Zornitza Stark reviewed gene: RBBP8: Rating: RED; Mode of pathogenicity: None; Publications: 21998596; Phenotypes: Jawad syndrome, MIM#251255, Seckel syndrome 2, MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.64 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.64 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.64 GAS1 Zornitza Stark Publications for gene: GAS1 were set to 21842183; 20583177
Callosome v0.63 GAS1 Zornitza Stark Phenotypes for gene: GAS1 were changed from to Holoprosencephaly
Callosome v0.62 GAS1 Zornitza Stark Publications for gene: GAS1 were set to
Callosome v0.61 GAS1 Zornitza Stark Mode of inheritance for gene: GAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.60 GAS1 Zornitza Stark Marked gene: GAS1 as ready
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.60 GAS1 Zornitza Stark Classified gene: GAS1 as Red List (low evidence)
Callosome v0.60 GAS1 Zornitza Stark Gene: gas1 has been classified as Red List (Low Evidence).
Callosome v0.59 GAS1 Zornitza Stark reviewed gene: GAS1: Rating: RED; Mode of pathogenicity: None; Publications: 21842183, 20583177; Phenotypes: Holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.59 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.59 CDH2 Zornitza Stark Classified gene: CDH2 as Green List (high evidence)
Callosome v0.59 CDH2 Zornitza Stark Gene: cdh2 has been classified as Green List (High Evidence).
Callosome v0.58 CDH2 Zornitza Stark gene: CDH2 was added
gene: CDH2 was added to Callosome. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDH2 were set to 31585109
Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities
Review for gene: CDH2 was set to GREEN
Added comment: Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Callosome v0.57 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Callosome v0.56 Zornitza Stark Panel name changed from Callosome_VCGS to Callosome
Panel types changed to Victorian Clinical Genetics Services
Callosome v0.55 NR2E1 Zornitza Stark Marked gene: NR2E1 as ready
Callosome v0.55 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Callosome v0.55 NR2E1 Zornitza Stark Classified gene: NR2E1 as Red List (low evidence)
Callosome v0.55 NR2E1 Zornitza Stark Gene: nr2e1 has been classified as Red List (Low Evidence).
Callosome v0.54 NR2E1 Zornitza Stark reviewed gene: NR2E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.54 ASXL3 Zornitza Stark Marked gene: ASXL3 as ready
Callosome v0.54 ASXL3 Zornitza Stark Gene: asxl3 has been classified as Green List (High Evidence).
Callosome v0.54 ASXL3 Zornitza Stark Phenotypes for gene: ASXL3 were changed from to Bainbridge-Ropers syndrome (OMIM # 615485)
Callosome v0.53 ASXL3 Zornitza Stark Publications for gene: ASXL3 were set to
Callosome v0.52 ASXL3 Zornitza Stark Mode of inheritance for gene: ASXL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.51 ASXL3 Zornitza Stark reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28100473, 27901041, 23383720; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.51 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Callosome v0.51 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.51 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.50 XPNPEP3 Zornitza Stark Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.50 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.50 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.49 XPNPEP3 Zornitza Stark Publications for gene: XPNPEP3 were set to
Callosome v0.48 XPNPEP3 Zornitza Stark Phenotypes for gene: XPNPEP3 were changed from to Nephronophthisis-like nephropathy 1, OMIM #613159
Callosome v0.47 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.47 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.47 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Callosome v0.47 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Callosome v0.46 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, OMIM #613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.46 TBC1D32 Zornitza Stark Marked gene: TBC1D32 as ready
Callosome v0.46 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Callosome v0.46 TBC1D32 Zornitza Stark Mode of inheritance for gene: TBC1D32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.45 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to
Callosome v0.44 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from to Orofaciodigital syndrome type IX
Callosome v0.43 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Red List (low evidence)
Callosome v0.43 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Red List (Low Evidence).
Callosome v0.42 TBC1D32 Zornitza Stark reviewed gene: TBC1D32: Rating: RED; Mode of pathogenicity: None; Publications: 24285566; Phenotypes: Orofaciodigital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.42 MAST1 Zornitza Stark Marked gene: MAST1 as ready
Callosome v0.42 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Callosome v0.42 MAST1 Zornitza Stark Classified gene: MAST1 as Green List (high evidence)
Callosome v0.42 MAST1 Zornitza Stark Gene: mast1 has been classified as Green List (High Evidence).
Callosome v0.41 MAST1 Zornitza Stark gene: MAST1 was added
gene: MAST1 was added to Callosome_VCGS. Sources: Literature
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 31721002; 30449657
Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations; OMIM #618273
Review for gene: MAST1 was set to GREEN
Added comment: 6 unrelated patients with mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) with de novo heterozygous mutations in MAST1 gene. In vitro functional studies showed that 1 of the variants (lys276del) increased MAST1 binding to microtubules compared to controls. Mutant mice heterozygous for a Mast1 leu278del allele showed a thicker corpus callosum compared to wildtype, and an overall reduction in cortical volume and thickness and decreased cerebellar volume and number of granule and Purkinje cells due to increased apoptosis compared to controls.

1 Emirati patient with ID, microcephaly, and dysmorphic features, with missense variant in MAST1.
Sources: Literature
Callosome v0.40 NIN Zornitza Stark Marked gene: NIN as ready
Callosome v0.40 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Callosome v0.40 NIN Zornitza Stark Phenotypes for gene: NIN were changed from to Seckel syndrome 7, MIM#614851
Callosome v0.39 NIN Zornitza Stark Publications for gene: NIN were set to
Callosome v0.38 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Callosome v0.38 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Callosome v0.37 NIN Zornitza Stark Mode of inheritance for gene: NIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.37 NIN Zornitza Stark Classified gene: NIN as Red List (low evidence)
Callosome v0.37 NIN Zornitza Stark Gene: nin has been classified as Red List (Low Evidence).
Callosome v0.36 NIN Zornitza Stark reviewed gene: NIN: Rating: RED; Mode of pathogenicity: None; Publications: 22933543; Phenotypes: Seckel syndrome 7, MIM#614851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.36 MRPS16 Zornitza Stark Marked gene: MRPS16 as ready
Callosome v0.36 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Callosome v0.36 MRPS16 Zornitza Stark Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498
Callosome v0.35 MRPS16 Zornitza Stark Mode of inheritance for gene: MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.34 MRPS16 Zornitza Stark Publications for gene: MRPS16 were set to
Callosome v0.33 MRPS16 Zornitza Stark Classified gene: MRPS16 as Amber List (moderate evidence)
Callosome v0.33 MRPS16 Zornitza Stark Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Callosome v0.31 GCSH Zornitza Stark Marked gene: GCSH as ready
Callosome v0.31 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Callosome v0.31 GCSH Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899
Callosome v0.30 GCSH Zornitza Stark Publications for gene: GCSH were set to
Callosome v0.29 GCSH Zornitza Stark Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.28 GCSH Zornitza Stark Classified gene: GCSH as Red List (low evidence)
Callosome v0.28 GCSH Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence).
Callosome v0.27 GCSH Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.27 ERMARD Zornitza Stark Marked gene: ERMARD as ready
Callosome v0.27 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Callosome v0.27 ERMARD Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544
Callosome v0.26 ERMARD Zornitza Stark Publications for gene: ERMARD were set to
Callosome v0.25 ERMARD Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.24 ERMARD Zornitza Stark Classified gene: ERMARD as Red List (low evidence)
Callosome v0.24 ERMARD Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence).
Callosome v0.22 EOMES Zornitza Stark Marked gene: EOMES as ready
Callosome v0.22 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Callosome v0.22 EOMES Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly
Callosome v0.21 EOMES Zornitza Stark Publications for gene: EOMES were set to
Callosome v0.20 EOMES Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.19 EOMES Zornitza Stark Classified gene: EOMES as Red List (low evidence)
Callosome v0.19 EOMES Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence).
Callosome v0.17 CTNNA2 Zornitza Stark Marked gene: CTNNA2 as ready
Callosome v0.17 CTNNA2 Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence).
Callosome v0.17 CTNNA2 Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174
Callosome v0.16 CTNNA2 Zornitza Stark Publications for gene: CTNNA2 were set to
Callosome v0.15 CTNNA2 Zornitza Stark Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.13 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Callosome v0.13 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Callosome v0.13 CEP63 Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728
Callosome v0.12 CEP63 Zornitza Stark Publications for gene: CEP63 were set to
Callosome v0.11 CEP63 Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.10 CEP63 Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence)
Callosome v0.10 CEP63 Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence).
Callosome v0.8 CD96 Zornitza Stark Marked gene: CD96 as ready
Callosome v0.8 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Callosome v0.8 CD96 Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750
Callosome v0.7 CD96 Zornitza Stark Publications for gene: CD96 were set to
Callosome v0.6 CD96 Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.5 CD96 Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence)
Callosome v0.5 CD96 Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence).
Callosome v0.3 LAMC1 Zornitza Stark Marked gene: LAMC1 as ready
Callosome v0.3 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Callosome v0.3 LAMC1 Zornitza Stark Classified gene: LAMC1 as Red List (low evidence)
Callosome v0.3 LAMC1 Zornitza Stark Gene: lamc1 has been classified as Red List (Low Evidence).
Callosome v0.2 LAMC1 Zornitza Stark reviewed gene: LAMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.2 B3GNT2 Zornitza Stark Marked gene: B3GNT2 as ready
Callosome v0.2 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Callosome v0.2 B3GNT2 Zornitza Stark Classified gene: B3GNT2 as Red List (low evidence)
Callosome v0.2 B3GNT2 Zornitza Stark Gene: b3gnt2 has been classified as Red List (Low Evidence).
Callosome v0.1 B3GNT2 Zornitza Stark reviewed gene: B3GNT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Callosome v0.1 Zornitza Stark Panel name changed from Corpus callosum agenesis, Callosome_VCGS to Callosome_VCGS
Callosome v0.0 ZNF462 Zornitza Stark gene: ZNF462 was added
gene: ZNF462 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZNF462 was set to Unknown
Callosome v0.0 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC3 was set to Unknown
Callosome v0.0 ZIC2 Zornitza Stark gene: ZIC2 was added
gene: ZIC2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC2 was set to Unknown
Callosome v0.0 ZIC1 Zornitza Stark gene: ZIC1 was added
gene: ZIC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZIC1 was set to Unknown
Callosome v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZFYVE26 was set to Unknown
Callosome v0.0 ZEB2 Zornitza Stark gene: ZEB2 was added
gene: ZEB2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZEB2 was set to Unknown
Callosome v0.0 ZEB1 Zornitza Stark gene: ZEB1 was added
gene: ZEB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZEB1 was set to Unknown
Callosome v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZDHHC9 was set to Unknown
Callosome v0.0 ZBTB20 Zornitza Stark gene: ZBTB20 was added
gene: ZBTB20 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB20 was set to Unknown
Callosome v0.0 ZBTB18 Zornitza Stark gene: ZBTB18 was added
gene: ZBTB18 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZBTB18 was set to Unknown
Callosome v0.0 XPNPEP3 Zornitza Stark gene: XPNPEP3 was added
gene: XPNPEP3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Callosome v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT3 was set to Unknown
Callosome v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR62 was set to Unknown
Callosome v0.0 WDR4 Zornitza Stark gene: WDR4 was added
gene: WDR4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR4 was set to Unknown
Callosome v0.0 WDR11 Zornitza Stark gene: WDR11 was added
gene: WDR11 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR11 was set to Unknown
Callosome v0.0 WASHC5 Zornitza Stark gene: WASHC5 was added
gene: WASHC5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WASHC5 was set to Unknown
Callosome v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VRK1 was set to Unknown
Callosome v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VLDLR was set to Unknown
Callosome v0.0 VAX1 Zornitza Stark gene: VAX1 was added
gene: VAX1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VAX1 was set to Unknown
Callosome v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRQ was set to Unknown
Callosome v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UQCRB was set to Unknown
Callosome v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UPF3B was set to Unknown
Callosome v0.0 TWIST1 Zornitza Stark gene: TWIST1 was added
gene: TWIST1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TWIST1 was set to Unknown
Callosome v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUFM was set to Unknown
Callosome v0.0 TUBGCP6 Zornitza Stark gene: TUBGCP6 was added
gene: TUBGCP6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBGCP6 was set to Unknown
Callosome v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBGCP4 was set to Unknown
Callosome v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBG1 was set to Unknown
Callosome v0.0 TUBB4A Zornitza Stark gene: TUBB4A was added
gene: TUBB4A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB4A was set to Unknown
Callosome v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB3 was set to Unknown
Callosome v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB2B was set to Unknown
Callosome v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB2A was set to Unknown
Callosome v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBB was set to Unknown
Callosome v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA8 was set to Unknown
Callosome v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TUBA1A was set to Unknown
Callosome v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC19 was set to Unknown
Callosome v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSFM was set to Unknown
Callosome v0.0 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN54 was set to Unknown
Callosome v0.0 TSEN34 Zornitza Stark gene: TSEN34 was added
gene: TSEN34 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN34 was set to Unknown
Callosome v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSEN2 was set to Unknown
Callosome v0.0 TRIO Zornitza Stark gene: TRIO was added
gene: TRIO was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIO was set to Unknown
Callosome v0.0 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TREX1 was set to Unknown
Callosome v0.0 TRAPPC9 Zornitza Stark gene: TRAPPC9 was added
gene: TRAPPC9 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC9 was set to Unknown
Callosome v0.0 TRAPPC6B Zornitza Stark gene: TRAPPC6B was added
gene: TRAPPC6B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAPPC6B was set to Unknown
Callosome v0.0 THOC6 Zornitza Stark gene: THOC6 was added
gene: THOC6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THOC6 was set to Unknown
Callosome v0.0 TGIF1 Zornitza Stark gene: TGIF1 was added
gene: TGIF1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TGIF1 was set to Unknown
Callosome v0.0 TCF4 Zornitza Stark gene: TCF4 was added
gene: TCF4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCF4 was set to Unknown
Callosome v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX22 was set to Unknown
Callosome v0.0 TBR1 Zornitza Stark gene: TBR1 was added
gene: TBR1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBR1 was set to Unknown
Callosome v0.0 TBC1D32 Zornitza Stark gene: TBC1D32 was added
gene: TBC1D32 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D32 was set to Unknown
Callosome v0.0 TBC1D20 Zornitza Stark gene: TBC1D20 was added
gene: TBC1D20 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D20 was set to Unknown
Callosome v0.0 TACR3 Zornitza Stark gene: TACR3 was added
gene: TACR3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TACR3 was set to Unknown
Callosome v0.0 TAC3 Zornitza Stark gene: TAC3 was added
gene: TAC3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAC3 was set to Unknown
Callosome v0.0 SZT2 Zornitza Stark gene: SZT2 was added
gene: SZT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SZT2 was set to Unknown
Callosome v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SURF1 was set to Unknown
Callosome v0.0 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SUOX was set to Unknown
Callosome v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STXBP1 was set to Unknown
Callosome v0.0 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STRA6 was set to Unknown
Callosome v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STIL was set to Unknown
Callosome v0.0 SPTAN1 Zornitza Stark gene: SPTAN1 was added
gene: SPTAN1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPTAN1 was set to Unknown
Callosome v0.0 SPRY4 Zornitza Stark gene: SPRY4 was added
gene: SPRY4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPRY4 was set to Unknown
Callosome v0.0 SPG11 Zornitza Stark gene: SPG11 was added
gene: SPG11 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPG11 was set to Unknown
Callosome v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPECC1L was set to Unknown
Callosome v0.0 SOX3 Zornitza Stark gene: SOX3 was added
gene: SOX3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX3 was set to Unknown
Callosome v0.0 SOX2 Zornitza Stark gene: SOX2 was added
gene: SOX2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX2 was set to Unknown
Callosome v0.0 SOS2 Zornitza Stark gene: SOS2 was added
gene: SOS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOS2 was set to Unknown
Callosome v0.0 SOS1 Zornitza Stark gene: SOS1 was added
gene: SOS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOS1 was set to Unknown
Callosome v0.0 SNX10 Zornitza Stark gene: SNX10 was added
gene: SNX10 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNX10 was set to Unknown
Callosome v0.0 SNIP1 Zornitza Stark gene: SNIP1 was added
gene: SNIP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNIP1 was set to Unknown
Callosome v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SNAP29 was set to Unknown
Callosome v0.0 SMO Zornitza Stark gene: SMO was added
gene: SMO was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMO was set to Unknown
Callosome v0.0 SMG9 Zornitza Stark gene: SMG9 was added
gene: SMG9 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMG9 was set to Unknown
Callosome v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCB1 was set to Unknown
Callosome v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCA4 was set to Unknown
Callosome v0.0 SLIT2 Zornitza Stark gene: SLIT2 was added
gene: SLIT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLIT2 was set to Unknown
Callosome v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A22 was set to Unknown
Callosome v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A19 was set to Unknown
Callosome v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A1 was set to Unknown
Callosome v0.0 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC1A4 was set to Unknown
Callosome v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC12A6 was set to Unknown
Callosome v0.0 SKI Zornitza Stark gene: SKI was added
gene: SKI was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SKI was set to Unknown
Callosome v0.0 SIX3 Zornitza Stark gene: SIX3 was added
gene: SIX3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX3 was set to Unknown
Callosome v0.0 SHH Zornitza Stark gene: SHH was added
gene: SHH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SHH was set to Unknown
Callosome v0.0 SF3B4 Zornitza Stark gene: SF3B4 was added
gene: SF3B4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SF3B4 was set to Unknown
Callosome v0.0 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETBP1 was set to Unknown
Callosome v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEPSECS was set to Unknown
Callosome v0.0 SEMA3A Zornitza Stark gene: SEMA3A was added
gene: SEMA3A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEMA3A was set to Unknown
Callosome v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SDHA was set to Unknown
Callosome v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCO2 was set to Unknown
Callosome v0.0 SCLT1 Zornitza Stark gene: SCLT1 was added
gene: SCLT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCLT1 was set to Unknown
Callosome v0.0 SATB2 Zornitza Stark gene: SATB2 was added
gene: SATB2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SATB2 was set to Unknown
Callosome v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SAMHD1 was set to Unknown
Callosome v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM5 was set to Unknown
Callosome v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RTTN was set to Unknown
Callosome v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS6KA3 was set to Unknown
Callosome v0.0 ROBO3 Zornitza Stark gene: ROBO3 was added
gene: ROBO3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROBO3 was set to Unknown
Callosome v0.0 ROBO2 Zornitza Stark gene: ROBO2 was added
gene: ROBO2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROBO2 was set to Unknown
Callosome v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNU4ATAC was set to Unknown
Callosome v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2C was set to Unknown
Callosome v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2B was set to Unknown
Callosome v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNASEH2A was set to Unknown
Callosome v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RMND1 was set to Unknown
Callosome v0.0 RIT1 Zornitza Stark gene: RIT1 was added
gene: RIT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RIT1 was set to Unknown
Callosome v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RELN was set to Unknown
Callosome v0.0 RBPJ Zornitza Stark gene: RBPJ was added
gene: RBPJ was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBPJ was set to Unknown
Callosome v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBM10 was set to Unknown
Callosome v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBBP8 was set to Unknown
Callosome v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RARS2 was set to Unknown
Callosome v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAF1 was set to Unknown
Callosome v0.0 RAD51 Zornitza Stark gene: RAD51 was added
gene: RAD51 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51 was set to Unknown
Callosome v0.0 RAC1 Zornitza Stark gene: RAC1 was added
gene: RAC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAC1 was set to Unknown
Callosome v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP2 was set to Unknown
Callosome v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB3GAP1 was set to Unknown
Callosome v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAB18 was set to Unknown
Callosome v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PYCR1 was set to Unknown
Callosome v0.0 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPN11 was set to Unknown
Callosome v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTEN was set to Unknown
Callosome v0.0 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTCH1 was set to Unknown
Callosome v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSAP was set to Unknown
Callosome v0.0 PRRX1 Zornitza Stark gene: PRRX1 was added
gene: PRRX1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRRX1 was set to Unknown
Callosome v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PROP1 was set to Unknown
Callosome v0.0 PROKR2 Zornitza Stark gene: PROKR2 was added
gene: PROKR2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PROKR2 was set to Unknown
Callosome v0.0 PROK2 Zornitza Stark gene: PROK2 was added
gene: PROK2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PROK2 was set to Unknown
Callosome v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRICKLE1 was set to Unknown
Callosome v0.0 PPP2R5D Zornitza Stark gene: PPP2R5D was added
gene: PPP2R5D was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP2R5D was set to Unknown
Callosome v0.0 PPP2R1A Zornitza Stark gene: PPP2R1A was added
gene: PPP2R1A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPP2R1A was set to Unknown
Callosome v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POU1F1 was set to Unknown
Callosome v0.0 PORCN Zornitza Stark gene: PORCN was added
gene: PORCN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PORCN was set to Unknown
Callosome v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT2 was set to Unknown
Callosome v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMT1 was set to Unknown
Callosome v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMK was set to Unknown
Callosome v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT2 was set to Unknown
Callosome v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POMGNT1 was set to Unknown
Callosome v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLR3B was set to Unknown
Callosome v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLR3A was set to Unknown
Callosome v0.0 PNPT1 Zornitza Stark gene: PNPT1 was added
gene: PNPT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNPT1 was set to Unknown
Callosome v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PNKP was set to Unknown
Callosome v0.0 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PMS2 was set to Unknown
Callosome v0.0 PITX2 Zornitza Stark gene: PITX2 was added
gene: PITX2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PITX2 was set to Unknown
Callosome v0.0 PITX1 Zornitza Stark gene: PITX1 was added
gene: PITX1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PITX1 was set to Unknown
Callosome v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3R2 was set to Unknown
Callosome v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3CA was set to Unknown
Callosome v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIGA was set to Unknown
Callosome v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIEZO2 was set to Unknown
Callosome v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX6 was set to Unknown
Callosome v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX5 was set to Unknown
Callosome v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX3 was set to Unknown
Callosome v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX26 was set to Unknown
Callosome v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX2 was set to Unknown
Callosome v0.0 PEX19 Zornitza Stark gene: PEX19 was added
gene: PEX19 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX19 was set to Unknown
Callosome v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX16 was set to Unknown
Callosome v0.0 PEX14 Zornitza Stark gene: PEX14 was added
gene: PEX14 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX14 was set to Unknown
Callosome v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX13 was set to Unknown
Callosome v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX12 was set to Unknown
Callosome v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX10 was set to Unknown
Callosome v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX1 was set to Unknown
Callosome v0.0 PDYN Zornitza Stark gene: PDYN was added
gene: PDYN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDYN was set to Unknown
Callosome v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDP1 was set to Unknown
Callosome v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHX was set to Unknown
Callosome v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHB was set to Unknown
Callosome v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDHA1 was set to Unknown
Callosome v0.0 PCYT2 Zornitza Stark gene: PCYT2 was added
gene: PCYT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCYT2 was set to Unknown
Callosome v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCNT was set to Unknown
Callosome v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCB was set to Unknown
Callosome v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCCA was set to Unknown
Callosome v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PC was set to Unknown
Callosome v0.0 PAX6 Zornitza Stark gene: PAX6 was added
gene: PAX6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX6 was set to Unknown
Callosome v0.0 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAFAH1B1 was set to Unknown
Callosome v0.0 OTX2 Zornitza Stark gene: OTX2 was added
gene: OTX2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OTX2 was set to Unknown
Callosome v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Callosome v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OCLN was set to Unknown
Callosome v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUBPL was set to Unknown
Callosome v0.0 NSMF Zornitza Stark gene: NSMF was added
gene: NSMF was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSMF was set to Unknown
Callosome v0.0 NSD1 Zornitza Stark gene: NSD1 was added
gene: NSD1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSD1 was set to Unknown
Callosome v0.0 NRAS Zornitza Stark gene: NRAS was added
gene: NRAS was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NRAS was set to Unknown
Callosome v0.0 NR2F1 Zornitza Stark gene: NR2F1 was added
gene: NR2F1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR2F1 was set to Unknown
Callosome v0.0 NR2E1 Zornitza Stark gene: NR2E1 was added
gene: NR2E1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR2E1 was set to Unknown
Callosome v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NIN was set to Unknown
Callosome v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHEJ1 was set to Unknown
Callosome v0.0 NFIX Zornitza Stark gene: NFIX was added
gene: NFIX was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFIX was set to Unknown
Callosome v0.0 NFIA Zornitza Stark gene: NFIA was added
gene: NFIA was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NFIA was set to Unknown
Callosome v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF1 was set to Unknown
Callosome v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEXN was set to Unknown
Callosome v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFV2 was set to Unknown
Callosome v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFV1 was set to Unknown
Callosome v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS8 was set to Unknown
Callosome v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS7 was set to Unknown
Callosome v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS6 was set to Unknown
Callosome v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS4 was set to Unknown
Callosome v0.0 NDUFS3 Zornitza Stark gene: NDUFS3 was added
gene: NDUFS3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS3 was set to Unknown
Callosome v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS2 was set to Unknown
Callosome v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS1 was set to Unknown
Callosome v0.0 NDUFB3 Zornitza Stark gene: NDUFB3 was added
gene: NDUFB3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFB3 was set to Unknown
Callosome v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF6 was set to Unknown
Callosome v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF5 was set to Unknown
Callosome v0.0 NDUFAF4 Zornitza Stark gene: NDUFAF4 was added
gene: NDUFAF4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF4 was set to Unknown
Callosome v0.0 NDUFAF3 Zornitza Stark gene: NDUFAF3 was added
gene: NDUFAF3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF3 was set to Unknown
Callosome v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF2 was set to Unknown
Callosome v0.0 NDUFAF1 Zornitza Stark gene: NDUFAF1 was added
gene: NDUFAF1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFAF1 was set to Unknown
Callosome v0.0 NDUFA9 Zornitza Stark gene: NDUFA9 was added
gene: NDUFA9 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA9 was set to Unknown
Callosome v0.0 NDUFA2 Zornitza Stark gene: NDUFA2 was added
gene: NDUFA2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA2 was set to Unknown
Callosome v0.0 NDUFA12 Zornitza Stark gene: NDUFA12 was added
gene: NDUFA12 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA12 was set to Unknown
Callosome v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA11 was set to Unknown
Callosome v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA10 was set to Unknown
Callosome v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFA1 was set to Unknown
Callosome v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDE1 was set to Unknown
Callosome v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NBN was set to Unknown
Callosome v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NAA10 was set to Unknown
Callosome v0.0 MYCN Zornitza Stark gene: MYCN was added
gene: MYCN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYCN was set to Unknown
Callosome v0.0 MTOR Zornitza Stark gene: MTOR was added
gene: MTOR was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTOR was set to Unknown
Callosome v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTFMT was set to Unknown
Callosome v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSH6 was set to Unknown
Callosome v0.0 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MSH2 was set to Unknown
Callosome v0.0 MRPS22 Zornitza Stark gene: MRPS22 was added
gene: MRPS22 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS22 was set to Unknown
Callosome v0.0 MRPS16 Zornitza Stark gene: MRPS16 was added
gene: MRPS16 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MRPS16 was set to Unknown
Callosome v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMACHC was set to Unknown
Callosome v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MLH1 was set to Unknown
Callosome v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MLC1 was set to Unknown
Callosome v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MID1 was set to Unknown
Callosome v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MEF2C was set to Unknown
Callosome v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MED12 was set to Unknown
Callosome v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MCPH1 was set to Unknown
Callosome v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MBTPS2 was set to Unknown
Callosome v0.0 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K2 was set to Unknown
Callosome v0.0 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAP2K1 was set to Unknown
Callosome v0.0 LZTR1 Zornitza Stark gene: LZTR1 was added
gene: LZTR1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LZTR1 was set to Unknown
Callosome v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP2 was set to Unknown
Callosome v0.0 LHX4 Zornitza Stark gene: LHX4 was added
gene: LHX4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LHX4 was set to Unknown
Callosome v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LHX3 was set to Unknown
Callosome v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LARGE1 was set to Unknown
Callosome v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMC3 was set to Unknown
Callosome v0.0 LAMC1 Zornitza Stark gene: LAMC1 was added
gene: LAMC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMC1 was set to Unknown
Callosome v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMB1 was set to Unknown
Callosome v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: L2HGDH was set to Unknown
Callosome v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: L1CAM was set to Unknown
Callosome v0.0 KRAS Zornitza Stark gene: KRAS was added
gene: KRAS was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KRAS was set to Unknown
Callosome v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KNL1 was set to Unknown
Callosome v0.0 KISS1R Zornitza Stark gene: KISS1R was added
gene: KISS1R was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KISS1R was set to Unknown
Callosome v0.0 KISS1 Zornitza Stark gene: KISS1 was added
gene: KISS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KISS1 was set to Unknown
Callosome v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF7 was set to Unknown
Callosome v0.0 KIF5C Zornitza Stark gene: KIF5C was added
gene: KIF5C was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF5C was set to Unknown
Callosome v0.0 KIF2A Zornitza Stark gene: KIF2A was added
gene: KIF2A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF2A was set to Unknown
Callosome v0.0 KIF27 Zornitza Stark gene: KIF27 was added
gene: KIF27 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF27 was set to Unknown
Callosome v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF1BP was set to Unknown
Callosome v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF14 was set to Unknown
Callosome v0.0 KIF11 Zornitza Stark gene: KIF11 was added
gene: KIF11 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF11 was set to Unknown
Callosome v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIAA0586 was set to Unknown
Callosome v0.0 KCNT1 Zornitza Stark gene: KCNT1 was added
gene: KCNT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNT1 was set to Unknown
Callosome v0.0 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KAT6B was set to Unknown
Callosome v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ISPD was set to Unknown
Callosome v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INPP5E was set to Unknown
Callosome v0.0 IL17RD Zornitza Stark gene: IL17RD was added
gene: IL17RD was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IL17RD was set to Unknown
Callosome v0.0 IGF1 Zornitza Stark gene: IGF1 was added
gene: IGF1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IGF1 was set to Unknown
Callosome v0.0 IGBP1 Zornitza Stark gene: IGBP1 was added
gene: IGBP1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IGBP1 was set to Unknown
Callosome v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ICK was set to Unknown
Callosome v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HYLS1 was set to Unknown
Callosome v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSD17B4 was set to Unknown
Callosome v0.0 HS6ST1 Zornitza Stark gene: HS6ST1 was added
gene: HS6ST1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HS6ST1 was set to Unknown
Callosome v0.0 HRAS Zornitza Stark gene: HRAS was added
gene: HRAS was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HRAS was set to Unknown
Callosome v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HIBCH was set to Unknown
Callosome v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HESX1 was set to Unknown
Callosome v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HEPACAM was set to Unknown
Callosome v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCFC1 was set to Unknown
Callosome v0.0 HCCS Zornitza Stark gene: HCCS was added
gene: HCCS was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HCCS was set to Unknown
Callosome v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPSM2 was set to Unknown
Callosome v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPC3 was set to Unknown
Callosome v0.0 GNRH1 Zornitza Stark gene: GNRH1 was added
gene: GNRH1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNRH1 was set to Unknown
Callosome v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GMPPB was set to Unknown
Callosome v0.0 GLUL Zornitza Stark gene: GLUL was added
gene: GLUL was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLUL was set to Unknown
Callosome v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI3 was set to Unknown
Callosome v0.0 GLI2 Zornitza Stark gene: GLI2 was added
gene: GLI2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI2 was set to Unknown
Callosome v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLDC was set to Unknown
Callosome v0.0 GHRHR Zornitza Stark gene: GHRHR was added
gene: GHRHR was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GHRHR was set to Unknown
Callosome v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFM1 was set to Unknown
Callosome v0.0 GCSH Zornitza Stark gene: GCSH was added
gene: GCSH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCSH was set to Unknown
Callosome v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GCDH was set to Unknown
Callosome v0.0 GAS1 Zornitza Stark gene: GAS1 was added
gene: GAS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GAS1 was set to Unknown
Callosome v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GALC was set to Unknown
Callosome v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FREM2 was set to Unknown
Callosome v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FRAS1 was set to Unknown
Callosome v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXRED1 was set to Unknown
Callosome v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXN1 was set to Unknown
Callosome v0.0 FOXG1 Zornitza Stark gene: FOXG1 was added
gene: FOXG1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXG1 was set to Unknown
Callosome v0.0 FOXC1 Zornitza Stark gene: FOXC1 was added
gene: FOXC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC1 was set to Unknown
Callosome v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLVCR2 was set to Unknown
Callosome v0.0 FLRT3 Zornitza Stark gene: FLRT3 was added
gene: FLRT3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLRT3 was set to Unknown
Callosome v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNA was set to Unknown
Callosome v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKTN was set to Unknown
Callosome v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKRP was set to Unknown
Callosome v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FIG4 was set to Unknown
Callosome v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FH was set to Unknown
Callosome v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR3 was set to Unknown
Callosome v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to Unknown
Callosome v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR1 was set to Unknown
Callosome v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to Unknown
Callosome v0.0 FGF17 Zornitza Stark gene: FGF17 was added
gene: FGF17 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF17 was set to Unknown
Callosome v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAT4 was set to Unknown
Callosome v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FARS2 was set to Unknown
Callosome v0.0 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FA2H was set to Unknown
Callosome v0.0 EXOSC5 Zornitza Stark gene: EXOSC5 was added
gene: EXOSC5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC5 was set to Unknown
Callosome v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EXOSC3 was set to Unknown
Callosome v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETHE1 was set to Unknown
Callosome v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETFDH was set to Unknown
Callosome v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETFB was set to Unknown
Callosome v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ETFA was set to Unknown
Callosome v0.0 ERMARD Zornitza Stark gene: ERMARD was added
gene: ERMARD was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERMARD was set to Unknown
Callosome v0.0 ERLIN2 Zornitza Stark gene: ERLIN2 was added
gene: ERLIN2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERLIN2 was set to Unknown
Callosome v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6 was set to Unknown
Callosome v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC5 was set to Unknown
Callosome v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC2 was set to Unknown
Callosome v0.0 ERCC1 Zornitza Stark gene: ERCC1 was added
gene: ERCC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC1 was set to Unknown
Callosome v0.0 ERBB2 Zornitza Stark gene: ERBB2 was added
gene: ERBB2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERBB2 was set to Unknown
Callosome v0.0 EPHB2 Zornitza Stark gene: EPHB2 was added
gene: EPHB2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPHB2 was set to Unknown
Callosome v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EPG5 was set to Unknown
Callosome v0.0 EP300 Zornitza Stark gene: EP300 was added
gene: EP300 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EP300 was set to Unknown
Callosome v0.0 EOMES Zornitza Stark gene: EOMES was added
gene: EOMES was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EOMES was set to Unknown
Callosome v0.0 EMX2 Zornitza Stark gene: EMX2 was added
gene: EMX2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EMX2 was set to Unknown
Callosome v0.0 EFTUD2 Zornitza Stark gene: EFTUD2 was added
gene: EFTUD2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFTUD2 was set to Unknown
Callosome v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFNB1 was set to Unknown
Callosome v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EBP was set to Unknown
Callosome v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EARS2 was set to Unknown
Callosome v0.0 DYNC1H1 Zornitza Stark gene: DYNC1H1 was added
gene: DYNC1H1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYNC1H1 was set to Unknown
Callosome v0.0 DUSP6 Zornitza Stark gene: DUSP6 was added
gene: DUSP6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DUSP6 was set to Unknown
Callosome v0.0 DSCAM Zornitza Stark gene: DSCAM was added
gene: DSCAM was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSCAM was set to Unknown
Callosome v0.0 DPYD Zornitza Stark gene: DPYD was added
gene: DPYD was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DPYD was set to Unknown
Callosome v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOCK6 was set to Unknown
Callosome v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLD was set to Unknown
Callosome v0.0 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLAT was set to Unknown
Callosome v0.0 DISC1 Zornitza Stark gene: DISC1 was added
gene: DISC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DISC1 was set to Unknown
Callosome v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DIS3L2 was set to Unknown
Callosome v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Callosome v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR24 was set to Unknown
Callosome v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDC was set to Unknown
Callosome v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCX was set to Unknown
Callosome v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCHS1 was set to Unknown
Callosome v0.0 DCC Zornitza Stark gene: DCC was added
gene: DCC was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCC was set to Unknown
Callosome v0.0 DAB1 Zornitza Stark gene: DAB1 was added
gene: DAB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DAB1 was set to Unknown
Callosome v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CYP11A1 was set to Unknown
Callosome v0.0 CWF19L1 Zornitza Stark gene: CWF19L1 was added
gene: CWF19L1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CWF19L1 was set to Unknown
Callosome v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUL4B was set to Unknown
Callosome v0.0 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTU2 was set to Unknown
Callosome v0.0 CTNNB1 Zornitza Stark gene: CTNNB1 was added
gene: CTNNB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNNB1 was set to Unknown
Callosome v0.0 CTNNA2 Zornitza Stark gene: CTNNA2 was added
gene: CTNNA2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTNNA2 was set to Unknown
Callosome v0.0 CREBBP Zornitza Stark gene: CREBBP was added
gene: CREBBP was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CREBBP was set to Unknown
Callosome v0.0 CREB1 Zornitza Stark gene: CREB1 was added
gene: CREB1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CREB1 was set to Unknown
Callosome v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CPT2 was set to Unknown
Callosome v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C5orf42 was set to Unknown
Callosome v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COX15 was set to Unknown
Callosome v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHSY1 was set to Unknown
Callosome v0.0 CHMP1A Zornitza Stark gene: CHMP1A was added
gene: CHMP1A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHMP1A was set to Unknown
Callosome v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD7 was set to Unknown
Callosome v0.0 CHD4 Zornitza Stark gene: CHD4 was added
gene: CHD4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD4 was set to Unknown
Callosome v0.0 CEP63 Zornitza Stark gene: CEP63 was added
gene: CEP63 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP63 was set to Unknown
Callosome v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP152 was set to Unknown
Callosome v0.0 CEP135 Zornitza Stark gene: CEP135 was added
gene: CEP135 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP135 was set to Unknown
Callosome v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CENPJ was set to Unknown
Callosome v0.0 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CENPF was set to Unknown
Callosome v0.0 CDON Zornitza Stark gene: CDON was added
gene: CDON was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDON was set to Unknown
Callosome v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK5RAP2 was set to Unknown
Callosome v0.0 CDK5 Zornitza Stark gene: CDK5 was added
gene: CDK5 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDK5 was set to Unknown
Callosome v0.0 CD96 Zornitza Stark gene: CD96 was added
gene: CD96 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD96 was set to Unknown
Callosome v0.0 CCND2 Zornitza Stark gene: CCND2 was added
gene: CCND2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCND2 was set to Unknown
Callosome v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CASK was set to Unknown
Callosome v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C2CD3 was set to Unknown
Callosome v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf65 was set to Unknown
Callosome v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf57 was set to Unknown
Callosome v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BUB1B was set to Unknown
Callosome v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRAF was set to Unknown
Callosome v0.0 BMP4 Zornitza Stark gene: BMP4 was added
gene: BMP4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP4 was set to Unknown
Callosome v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCS1L was set to Unknown
Callosome v0.0 BCOR Zornitza Stark gene: BCOR was added
gene: BCOR was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BCOR was set to Unknown
Callosome v0.0 B4GAT1 Zornitza Stark gene: B4GAT1 was added
gene: B4GAT1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B4GAT1 was set to Unknown
Callosome v0.0 B3GNT2 Zornitza Stark gene: B3GNT2 was added
gene: B3GNT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GNT2 was set to Unknown
Callosome v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GLCT was set to Unknown
Callosome v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: B3GALNT2 was set to Unknown
Callosome v0.0 ATXN10 Zornitza Stark gene: ATXN10 was added
gene: ATXN10 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATXN10 was set to Unknown
Callosome v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATRX was set to Unknown
Callosome v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATR was set to Unknown
Callosome v0.0 ATPAF2 Zornitza Stark gene: ATPAF2 was added
gene: ATPAF2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATPAF2 was set to Unknown
Callosome v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP7A was set to Unknown
Callosome v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP6V0A2 was set to Unknown
Callosome v0.0 ASXL3 Zornitza Stark gene: ASXL3 was added
gene: ASXL3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASXL3 was set to Unknown
Callosome v0.0 ASXL1 Zornitza Stark gene: ASXL1 was added
gene: ASXL1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASXL1 was set to Unknown
Callosome v0.0 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASTN1 was set to Unknown
Callosome v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASPM was set to Unknown
Callosome v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARX was set to Unknown
Callosome v0.0 ARMC1 Zornitza Stark gene: ARMC1 was added
gene: ARMC1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARMC1 was set to Unknown
Callosome v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1B was set to Unknown
Callosome v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1A was set to Unknown
Callosome v0.0 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGAP31 was set to Unknown
Callosome v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARFGEF2 was set to Unknown
Callosome v0.0 APP Zornitza Stark gene: APP was added
gene: APP was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APP was set to Unknown
Callosome v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP4M1 was set to Unknown
Callosome v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP4B1 was set to Unknown
Callosome v0.0 ANOS1 Zornitza Stark gene: ANOS1 was added
gene: ANOS1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANOS1 was set to Unknown
Callosome v0.0 ANK2 Zornitza Stark gene: ANK2 was added
gene: ANK2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANK2 was set to Unknown
Callosome v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMT was set to Unknown
Callosome v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMPD2 was set to Unknown
Callosome v0.0 AMER1 Zornitza Stark gene: AMER1 was added
gene: AMER1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AMER1 was set to Unknown
Callosome v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALX4 was set to Unknown
Callosome v0.0 ALX3 Zornitza Stark gene: ALX3 was added
gene: ALX3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALX3 was set to Unknown
Callosome v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALG6 was set to Unknown
Callosome v0.0 AKT3 Zornitza Stark gene: AKT3 was added
gene: AKT3 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AKT3 was set to Unknown
Callosome v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AIFM1 was set to Unknown
Callosome v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AHI1 was set to Unknown
Callosome v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADGRG1 was set to Unknown
Callosome v0.0 ACTG1 Zornitza Stark gene: ACTG1 was added
gene: ACTG1 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTG1 was set to Unknown
Callosome v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTB was set to Unknown
Callosome v0.0 ACADS Zornitza Stark gene: ACADS was added
gene: ACADS was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACADS was set to Unknown
Callosome v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABAT was set to Unknown
Callosome v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AARS2 was set to Unknown
Callosome v0.0 Zornitza Stark Added panel Corpus callosum agenesis, Callosome_VCGS