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Mendeliome v0.10643 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Mendeliome v0.10643 TBX22 Zornitza Stark Gene: tbx22 has been classified as Green List (High Evidence).
Mendeliome v0.10643 TBX22 Zornitza Stark Phenotypes for gene: TBX22 were changed from to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905
Mendeliome v0.10642 TBX22 Zornitza Stark Publications for gene: TBX22 were set to
Mendeliome v0.10641 TBX22 Zornitza Stark Mode of inheritance for gene: TBX22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10640 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: GREEN; Mode of pathogenicity: None; Publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10640 MYPN Ain Roesley reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MYL9 Ain Roesley Deleted their comment
Mendeliome v0.10640 MYL9 Ain Roesley edited their review of gene: MYL9: Added comment: PMID:32621347;
3rd family with non-consanguineous parents and 3 TOPs. 2 were genotyped and found to be hom for the same deletion of exon 4 as reported by PMID: 29453416

Possibly 4th proband in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; Changed publications: 32621347, 33264186
Mendeliome v0.10640 MYL9 Ain Roesley edited their review of gene: MYL9: Changed publications: 32621347
Mendeliome v0.10640 MYL9 Ain Roesley reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MSTO1 Ain Roesley reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 FOXH1 Krithika Murali reviewed gene: FOXH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18538293, 19933292, 32003456, 12094232, 16304598; Phenotypes: Congenital heart disease, holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10640 MDH2 Ain Roesley reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34766628, 27989324; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MBOAT7 Ain Roesley reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10640 LMBRD2 Zornitza Stark Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Mendeliome v0.10639 LMBRD2 Zornitza Stark edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye
Mendeliome v0.10639 OGDHL Zornitza Stark Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Mendeliome v0.10638 OGDHL Zornitza Stark reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10638 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10638 ANAPC7 Zornitza Stark Classified gene: ANAPC7 as Amber List (moderate evidence)
Mendeliome v0.10638 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10637 ANAPC7 Zornitza Stark gene: ANAPC7 was added
gene: ANAPC7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANAPC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC7 were set to 34942119
Phenotypes for gene: ANAPC7 were set to Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699
Review for gene: ANAPC7 was set to AMBER
Added comment: 11 individuals of Amish heritage reported homozygous for an intragenic deletion. Clinical features included ID, hypotonia, deafness in 5, relatively small head size (but microcephaly only in 1), and occasional congenital anomalies.

Supportive mouse model.

Amber rating in light of this being a founder variant.
Sources: Literature
Mendeliome v0.10636 DLX5 Zornitza Stark Gene: dlx5 has been classified as Green List (High Evidence).
Mendeliome v0.10636 DLX5 Zornitza Stark Phenotypes for gene: DLX5 were changed from to Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600; Split-hand/foot malformation 1 MIM#183600
Mendeliome v0.10635 DLX5 Zornitza Stark Publications for gene: DLX5 were set to
Mendeliome v0.10634 DLX5 Zornitza Stark Mode of inheritance for gene: DLX5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10633 DLX5 Zornitza Stark changed review comment from: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).

A heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).
A heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).

Animal model evidence - mouse; to: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).

A heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).
A heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).

Animal model evidence - mouse

Green for mono-allelic, Amber for bi-allelic.
Mendeliome v0.10633 DLX5 Zornitza Stark reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10633 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296
Mendeliome v0.10632 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Green List (High Evidence).
Mendeliome v0.10632 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from to Diarrhoea 6, MIM# 614616; Meconium ileus, MIM# 614665
Mendeliome v0.10631 GUCY2C Zornitza Stark Publications for gene: GUCY2C were set to
Mendeliome v0.10630 GUCY2C Zornitza Stark Mode of inheritance for gene: GUCY2C was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10629 GUCY2C Zornitza Stark reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Diarrhoea 6, MIM# 614616, Meconium ileus, MIM# 614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10629 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Mendeliome v0.10629 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Mendeliome v0.10628 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10627 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10627 ICAM1 Ain Roesley reviewed gene: ICAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10627 IRAK3 Ain Roesley reviewed gene: IRAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10627 CAPN10 Ain Roesley reviewed gene: CAPN10: Rating: RED; Mode of pathogenicity: None; Publications: 31791003, 31292430; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10627 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Mendeliome v0.10627 PDCD10 Zornitza Stark Phenotypes for gene: PDCD10 were changed from to Cerebral cavernous malformations 3 MIM#603285
Mendeliome v0.10626 PDCD10 Zornitza Stark Publications for gene: PDCD10 were set to
Mendeliome v0.10625 PDCD10 Zornitza Stark Mode of inheritance for gene: PDCD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10624 PDCD10 Zornitza Stark reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30356112, 15543491; Phenotypes: Cerebral cavernous malformations 3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10624 LGI4 Zornitza Stark Gene: lgi4 has been classified as Green List (High Evidence).
Mendeliome v0.10624 LGI4 Zornitza Stark Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
Mendeliome v0.10623 LGI4 Zornitza Stark Publications for gene: LGI4 were set to
Mendeliome v0.10622 LGI4 Zornitza Stark Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10621 LGI4 Zornitza Stark reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28318499, 34288120; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10621 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Mendeliome v0.10621 LFNG Zornitza Stark Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813
Mendeliome v0.10620 LFNG Zornitza Stark Publications for gene: LFNG were set to
Mendeliome v0.10619 LFNG Zornitza Stark Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10618 LFNG Zornitza Stark reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9690472, 16385447, 30531807, 9690473; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10618 SLC39A7 Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Mendeliome v0.10617 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed phenotypes: Agammaglobulinemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia
Mendeliome v0.10617 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Mendeliome v0.10616 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Mendeliome v0.10616 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Mendeliome v0.10616 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Spastic paraplegia 42, autosomal dominant, MIM# 612539
Mendeliome v0.10615 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Mendeliome v0.10614 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10613 SLC33A1 Zornitza Stark reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315, 19061983, 20461110; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482, Spastic paraplegia 42, autosomal dominant, MIM# 612539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10613 ITPKC Zornitza Stark Marked gene: ITPKC as ready
Mendeliome v0.10613 ITPKC Zornitza Stark Gene: itpkc has been classified as Red List (Low Evidence).
Mendeliome v0.10613 ITPKC Zornitza Stark Publications for gene: ITPKC were set to
Mendeliome v0.10612 ITPKC Zornitza Stark Classified gene: ITPKC as Red List (low evidence)
Mendeliome v0.10612 ITPKC Zornitza Stark Gene: itpkc has been classified as Red List (Low Evidence).
Mendeliome v0.10611 MAMLD1 Zornitza Stark Gene: mamld1 has been classified as Green List (High Evidence).
Mendeliome v0.10611 MAMLD1 Zornitza Stark Phenotypes for gene: MAMLD1 were changed from to Hypospadias 2 (MIM#300758)
Mendeliome v0.10610 MAMLD1 Zornitza Stark Publications for gene: MAMLD1 were set to
Mendeliome v0.10609 MAMLD1 Zornitza Stark Mode of inheritance for gene: MAMLD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10608 MAMLD1 Zornitza Stark reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10608 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Mendeliome v0.10608 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Mendeliome v0.10607 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Mendeliome v0.10606 INPP5K Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10605 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10605 IGFBP7 Zornitza Stark Phenotypes for gene: IGFBP7 were changed from to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224
Mendeliome v0.10604 IGFBP7 Zornitza Stark Publications for gene: IGFBP7 were set to
Mendeliome v0.10603 IGFBP7 Zornitza Stark Mode of inheritance for gene: IGFBP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10602 IGFBP7 Zornitza Stark Classified gene: IGFBP7 as Amber List (moderate evidence)
Mendeliome v0.10602 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10601 IGFBP7 Zornitza Stark Tag founder tag was added to gene: IGFBP7.
Mendeliome v0.10601 IGFBP7 Zornitza Stark reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10601 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability
Mendeliome v0.10600 NSD2 Zornitza Stark edited their review of gene: NSD2: Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability
Mendeliome v0.10600 KISS1R Zornitza Stark Gene: kiss1r has been classified as Green List (High Evidence).
Mendeliome v0.10600 KISS1R Zornitza Stark Phenotypes for gene: KISS1R were changed from to Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)
Mendeliome v0.10599 KISS1R Zornitza Stark Publications for gene: KISS1R were set to
Mendeliome v0.10598 KISS1R Zornitza Stark Mode of inheritance for gene: KISS1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10597 KISS1R Zornitza Stark reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164310, 31073722, 14573733; Phenotypes: Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10597 IDH1 Zornitza Stark Gene: idh1 has been classified as Green List (High Evidence).
Mendeliome v0.10597 IDH1 Zornitza Stark Phenotypes for gene: IDH1 were changed from Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808 to Ollier disease MONDO:0008145; Maffucci syndrome MONDO:0013808
Mendeliome v0.10596 IDH1 Zornitza Stark Phenotypes for gene: IDH1 were changed from to Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808
Mendeliome v0.10595 IDH1 Zornitza Stark Publications for gene: IDH1 were set to
Mendeliome v0.10594 IDH1 Zornitza Stark Mode of inheritance for gene: IDH1 was changed from Unknown to Other
Mendeliome v0.10593 IDH1 Zornitza Stark Tag somatic tag was added to gene: IDH1.
Mendeliome v0.10593 HNRNPH2 Zornitza Stark Gene: hnrnph2 has been classified as Green List (High Evidence).
Mendeliome v0.10593 HNRNPH2 Zornitza Stark Phenotypes for gene: HNRNPH2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986
Mendeliome v0.10592 HNRNPH2 Zornitza Stark Publications for gene: HNRNPH2 were set to
Mendeliome v0.10591 HNRNPH2 Zornitza Stark Mode of inheritance for gene: HNRNPH2 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)
Mendeliome v0.10590 KCNT1 Zornitza Stark Marked gene: KCNT1 as ready
Mendeliome v0.10590 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Green List (High Evidence).
Mendeliome v0.10590 KCNT1 Zornitza Stark Phenotypes for gene: KCNT1 were changed from to Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Epileptic encephalopathy, early infantile, 14, MIM# 614959
Mendeliome v0.10589 KCNT1 Zornitza Stark Publications for gene: KCNT1 were set to
Mendeliome v0.10588 KCNT1 Zornitza Stark Mode of inheritance for gene: KCNT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10587 KCNT1 Zornitza Stark reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23086397, 23086396, 31872048, 31532509; Phenotypes: Epilepsy, nocturnal frontal lobe, 5, MIM# 615005, Epileptic encephalopathy, early infantile, 14, MIM# 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10587 ITPKC Ain Roesley changed review comment from: Currently no mendelian gene-disease assocation. Best known for polymorphisms associated with Kawasaki disease susceptibility.

KO mouse models looking at protein expression and effect on multiciliary beating frequency and spermatozoa, no significant defects in both; to: Currently no mendelian gene-disease association. Best known for polymorphisms associated with Kawasaki disease susceptibility.

KO mouse models looking at tissue protein expression and effect on multiciliary beating frequency and spermatozoa, no significant defects in both
Mendeliome v0.10587 ITPKC Ain Roesley reviewed gene: ITPKC: Rating: RED; Mode of pathogenicity: None; Publications: 32283413, 29098351, 27036498; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10587 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10586 PRKAR1B Zornitza Stark Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure
Mendeliome v0.10585 PRKAR1B Zornitza Stark Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10584 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1 309800 to Microphthalmia, syndromic 1, MIM# 309800; Ogden syndrome MIM#300855
Mendeliome v0.10583 NAA10 Zornitza Stark Publications for gene: NAA10 were set to 30842225
Mendeliome v0.10582 TOPORS Zornitza Stark Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31 (MIM#609923) to Retinitis pigmentosa 31 (MIM#609923); Ciliopathy, MONDO:0005308, TOPORS-associated, AR
Mendeliome v0.10581 TOPORS Zornitza Stark Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552
Mendeliome v0.10580 TOPORS Zornitza Stark Mode of inheritance for gene: TOPORS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10579 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency; bone marrow failure; Autoinflammatory syndrome MONDO:0019751
Mendeliome v0.10578 TLR8 Zornitza Stark Publications for gene: TLR8 were set to 33512449
Mendeliome v0.10577 TLR8 Zornitza Stark edited their review of gene: TLR8: Added comment: PMID 34981838: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune haemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.; Changed publications: 33512449, 34981838; Changed phenotypes: Immunodeficiency, bone marrow failure, Autoinflammatory syndrome MONDO:0019751
Mendeliome v0.10577 MARS Zornitza Stark Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy, MONDO:0018053 to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM# 619692
Mendeliome v0.10576 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Spastic paraplegia 85, autosomal recessive, MIM# 619686; Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Mendeliome v0.10575 RNF170 Zornitza Stark Gene: rnf170 has been classified as Green List (High Evidence).
Mendeliome v0.10575 RNF170 Zornitza Stark Phenotypes for gene: RNF170 were changed from to Spastic paraplegia 85, autosomal recessive, MIM# 619686; Ataxia, sensory, 1, autosomal dominant, MIM# 608984
Mendeliome v0.10574 RNF170 Zornitza Stark Mode of inheritance for gene: RNF170 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10573 RNF170 Zornitza Stark reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636353, 21115467, 32943585; Phenotypes: Spastic paraplegia 85, autosomal recessive, MIM# 619686, Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10573 INPP5K Ain Roesley changed review comment from: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder; to: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Pakistani/Bangladeshi founder
Mendeliome v0.10573 INPP5K Ain Roesley changed review comment from: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation; to: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder
Mendeliome v0.10573 INPP5K Ain Roesley reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10573 IGFBP7 Ain Roesley reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10573 VPS50 Zornitza Stark Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum
Mendeliome v0.10572 VPS50 Zornitza Stark edited their review of gene: VPS50: Changed phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685, Neonatal cholestatic liver disease, Failure to thrive, Profound global developmental delay, Postnatal microcephaly, Seizures, Abnormality of the corpus callosum
Mendeliome v0.10572 ATP5G3 Zornitza Stark Tag new gene name tag was added to gene: ATP5G3.
Mendeliome v0.10572 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Mendeliome v0.10571 AARS Zornitza Stark Publications for gene: AARS were set to 28493438; 25817015; 20045102; 22009580; 22206013; 30373780; 26032230; 33909043
Mendeliome v0.10570 AARS Zornitza Stark edited their review of gene: AARS: Added comment: PMID 31775912: single multigenerational family with leukoencephalopathy segregating AARS1 variant.; Changed publications: 28493438, 25817015, 20045102, 22009580, 22206013, 30373780, 26032230, 31775912; Changed phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287, Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Mendeliome v0.10570 IDH1 Ain Roesley reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34393643, 34588213, 34624834, 34720940, 32727816; Phenotypes: Ollier disease MONDO:0008145, Maffucci syndromeMONDO:0013808; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.10570 HNRNPH2 Ain Roesley reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.10570 CRACR2A Zornitza Stark Added comment: Comment when marking as ready: Single individual.
Mendeliome v0.10570 CRACR2A Zornitza Stark Gene: cracr2a has been classified as Red List (Low Evidence).
Mendeliome v0.10570 CRACR2A Zornitza Stark Phenotypes for gene: CRACR2A were changed from Late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; Late onset combined immunodeficiency
Mendeliome v0.10569 IFT140 Zornitza Stark Publications for gene: IFT140 were set to 22503633; 23418020; 28288023; 28724397; 26216056; 26968735
Mendeliome v0.10568 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10567 PRDM13 Zornitza Stark Tag founder tag was added to gene: PRDM13.
Mendeliome v0.10567 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790 to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770
Mendeliome v0.10566 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 30710461
Mendeliome v0.10565 PRDM13 Zornitza Stark Mode of inheritance for gene: PRDM13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10564 PRDM13 Zornitza Stark Added comment: Comment when marking as ready: Bi-allelic variants: Recessive disease causing ID and DSD described in three reportedly unrelated families (2 consanguineous), but all are from Malta, and all share the same 13bp deletion spanning an exon-intron boundary. Mouse KO is embryonically lethal, and tissue specific KO failed to replicate many of the patients phenotypes, other than hypoplasia of the cerebellar vermis and hemispheres at P21.
Mendeliome v0.10564 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.10564 PI4KA Zornitza Stark Publications for gene: PI4KA were set to 25855803; 34415322
Mendeliome v0.10563 ATP5A1 Naomi Baker edited their review of gene: ATP5A1: Added comment: PMID: 34954817 reports three individuals with de novo monoallelic missense variants. One of these is the recurrent p.(Arg207His) variant while the other two variants are different substitutions. The three patients presented with a variable phenotypes: (1) a 14-year-old girl who presented during the first few months of life with developmental delay, failure-to-thrive, and lactic acidosis. She recovered and had no persistent neurologic phenotype; (2) a 17-year-old boy with psychomotor delay, intellectual disability, ataxia, spastic paraparesis, and dystonia; (3) a 12-year-old girl with psychomotor retardation, spastic tetraparesis, generalized dystonia, absent speech, swallowing problems, and increased blood lactate concentrations. Enzymatic investigations of muscle tissue from patient 1 showed a decrease in ATPase activity.; Changed publications: PMID: 34954817
Mendeliome v0.10563 ATP5G3 Seb Lunke Marked gene: ATP5G3 as ready
Mendeliome v0.10563 ATP5G3 Seb Lunke Gene: atp5g3 has been classified as Green List (High Evidence).
Mendeliome v0.10563 ATP5G3 Seb Lunke Publications for gene: ATP5G3 were set to PMID: 34636445
Mendeliome v0.10562 ATP5G3 Seb Lunke Classified gene: ATP5G3 as Green List (high evidence)
Mendeliome v0.10562 ATP5G3 Seb Lunke Gene: atp5g3 has been classified as Green List (High Evidence).
Mendeliome v0.10561 ATP5G3 Naomi Baker edited their review of gene: ATP5G3: Added comment: Note that HGNC approved gene name is ATP5MC3.

PMID: 34636445 reports a missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia. The variant was identified via exome sequencing of the proband and a distant cousin, focussing on variants within the previously determined linkage region. The identical missense variant was also identified in a patient with childhood onset dystonic syndrome and was shown to be de novo. Functional studies of fibroblast cell lines from affected father (HSP) and proband of large family demonstrated decreased complex V function. A drosophila model containing the missense variant had reduced mobility and reduced complex V activity.

PMID: 34954817 reports de novo monoallelic missense variants in three individuals, however one of these individuals was reported in above paper. The other two patients were: (1) a-15-year-old girl with milestone delay, pyramidal signs, and generalized dystonia with prominent upper-body involvement, and (2) a 6-year-old boy with delayed psychomotor development, lower-extremity spasticity, and elevated blood lactate levels; Changed rating: GREEN; Changed publications: PMID: 34636445, 34954817
Mendeliome v0.10561 PRDM13 Seb Lunke reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: None; Publications: 34730112; Phenotypes: intellectual disability, MONDO:0001071, PRDM13-associated, ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated, congenital hypogonadotropic hypogonadism, MONDO:0015770 Edit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10561 CCND2 Alison Yeung Gene: ccnd2 has been classified as Green List (High Evidence).
Mendeliome v0.10561 CCND2 Alison Yeung Phenotypes for gene: CCND2 were changed from to Neurodevelopmental disorder, CCND2-related MONDO: 0700092; Microcephaly, MONDO: 0001149; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938
Mendeliome v0.10560 CCND2 Alison Yeung Mode of inheritance for gene: CCND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10559 IFT140 Alison Yeung Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473
Mendeliome v0.10558 PPIA Seb Lunke Gene: ppia has been classified as Red List (Low Evidence).
Mendeliome v0.10558 ATP5G3 Naomi Baker gene: ATP5G3 was added
gene: ATP5G3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to PMID: 34636445
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Review for gene: ATP5G3 was set to AMBER
Added comment: Note that new gene name is ATP5MC3.

Paper reports the same missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia, and also de novo in a patient with childhood onset dystonic syndrome. Drosophila model with missense variant also studied. Functional studies of fibroblast cells lines from affected father and proband demonstrated decreased complex V function.
Sources: Literature
Mendeliome v0.10558 RPL10L Alison Yeung Gene: rpl10l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10558 PPIA Seb Lunke Classified gene: PPIA as Red List (low evidence)
Mendeliome v0.10558 PPIA Seb Lunke Gene: ppia has been classified as Red List (Low Evidence).
Mendeliome v0.10558 RPL10L Alison Yeung Classified gene: RPL10L as Amber List (moderate evidence)
Mendeliome v0.10558 RPL10L Alison Yeung Added comment: Comment on list classification: heterozygous variants in three unrelated patients presenting with azoospermia. Given the common phenotype, need a few more cases to convert to green list.
Mendeliome v0.10558 RPL10L Alison Yeung Gene: rpl10l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10557 DNHD1 Seb Lunke Gene: dnhd1 has been classified as Green List (High Evidence).
Mendeliome v0.10557 DNHD1 Seb Lunke Classified gene: DNHD1 as Green List (high evidence)
Mendeliome v0.10557 DNHD1 Seb Lunke Gene: dnhd1 has been classified as Green List (High Evidence).
Mendeliome v0.10556 PRKAR1B Paul De Fazio reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33833410; Phenotypes: Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.10556 NAA10 Ain Roesley Deleted their comment
Mendeliome v0.10556 NAA10 Ain Roesley edited their review of gene: NAA10: Added comment: For Ogden association:
lethal X-linked. 9 males from 3 families with recurrent Ser37Pro
All presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias

For non-lethal syndromic ID:
reported in 10 males and (mostly de novo) in 37 females
variants causing this are missense located along the protein and 1 truncating

For syndromic microopththamia: variants are in the UTR; Changed mode of inheritance: Other
Mendeliome v0.10556 RPL10L Dean Phelan gene: RPL10L was added
gene: RPL10L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL10L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RPL10L were set to PMID:32111475
Phenotypes for gene: RPL10L were set to MONDO_0004983, oligo-/azoospermia
Review for gene: RPL10L was set to AMBER
Added comment: PMID:32111475 - cohort study of patients with oligo-/azoospermia identified a homozygous variant in two brothers with severe oligozoospermia. Three additional patients with oligo-/azoospermia had heterozygous variants. No RPL10L variants were found in the fertile control subjects.

A further search did not identify additional publications.
Sources: Literature
Mendeliome v0.10556 SLC35F1 Seb Lunke Gene: slc35f1 has been classified as Red List (Low Evidence).
Mendeliome v0.10556 SLC35F1 Seb Lunke Phenotypes for gene: SLC35F1 were changed from Rett-like syndrome to Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome
Mendeliome v0.10555 SLC35F1 Seb Lunke Classified gene: SLC35F1 as Red List (low evidence)
Mendeliome v0.10555 SLC35F1 Seb Lunke Gene: slc35f1 has been classified as Red List (Low Evidence).
Mendeliome v0.10554 MYH1 Seb Lunke Gene: myh1 has been classified as Red List (Low Evidence).
Mendeliome v0.10554 CRACR2A Alison Yeung Gene: cracr2a has been classified as Red List (Low Evidence).
Mendeliome v0.10554 PPIA Naomi Baker gene: PPIA was added
gene: PPIA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPIA were set to PMID: 34972208
Phenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976
Review for gene: PPIA was set to RED
Added comment: Paper characterizes a knockout mouse model that recapitulates key features of ALS-FTD. Also identified a heterozygous missense variant in one patient with sporadic amyotrophic lateral sclerosis. Functional studies of the missense variant suggest loss-of-function.
Sources: Literature
Mendeliome v0.10554 MYH1 Seb Lunke Phenotypes for gene: MYH1 were changed from recurrent rhabdomyolysis to rhabdomyolysis, MONDO:0005290
Mendeliome v0.10554 CRACR2A Alison Yeung Classified gene: CRACR2A as Red List (low evidence)
Mendeliome v0.10554 CRACR2A Alison Yeung Gene: cracr2a has been classified as Red List (Low Evidence).
Mendeliome v0.10553 DNHD1 Daniel Flanagan gene: DNHD1 was added
gene: DNHD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNHD1 were set to 34932939
Phenotypes for gene: DNHD1 were set to Male infertility due to sperm motility disorder (MONDO:0018395)
Review for gene: DNHD1 was set to GREEN
Added comment: Biallelic DNHD1 variants identified in 8 unrelated probands with asthenoteratozoospermia, reduced sperm motility and abnormal sperm morphology. DNHD1 knockout mice were infertile and had significantly reduced sperm concentration and motility rates, consistent with human individuals.
Sources: Literature
Mendeliome v0.10553 MYH1 Seb Lunke Classified gene: MYH1 as Red List (low evidence)
Mendeliome v0.10553 MYH1 Seb Lunke Gene: myh1 has been classified as Red List (Low Evidence).
Mendeliome v0.10552 CCND2 Alison Yeung reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34087052; Phenotypes: Neurodevelopmental disorder, CCND2-related MONDO# 0700092, Microcephaly, MONDO# 0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10552 NAA10 Ain Roesley reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34075687, 21700266; Phenotypes: Ogden syndrome MIM#300855; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10552 TOPORS Dean Phelan reviewed gene: TOPORS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:34132027; Phenotypes: Postaxial polydactyly:multiple lingual hamartomas:dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10552 PI4KA Paul De Fazio reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10552 IFT140 Alison Yeung reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546, 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781, Cystic Kidney Disease, MONDO# 0002473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10552 SLC35F1 Ain Roesley gene: SLC35F1 was added
gene: SLC35F1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC35F1 were set to 33821533
Phenotypes for gene: SLC35F1 were set to Rett-like syndrome
Penetrance for gene: SLC35F1 were set to unknown
Review for gene: SLC35F1 was set to RED
gene: SLC35F1 was marked as current diagnostic
Added comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.

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

no protein functional work was performed
Sources: Literature
Mendeliome v0.10552 IFT140 Alison Yeung Deleted their review
Mendeliome v0.10552 CRACR2A Dean Phelan gene: CRACR2A was added
gene: CRACR2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRACR2A were set to PMID:34908525
Phenotypes for gene: CRACR2A were set to Late onset combined immunodeficiency
Review for gene: CRACR2A was set to AMBER
Added comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.

Further search did not identify any additional publications.
Sources: Literature
Mendeliome v0.10552 IFT140 Alison Yeung reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546; Phenotypes: cystic Kidney Disease, MONDO# 0002473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10552 MYH1 Ain Roesley gene: MYH1 was added
gene: MYH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH1 were set to 33755318
Phenotypes for gene: MYH1 were set to recurrent rhabdomyolysis
Penetrance for gene: MYH1 were set to unknown
Review for gene: MYH1 was set to RED
gene: MYH1 was marked as current diagnostic
Added comment: 18 yr old male from a consaguineous family.
WES was performed and a homozygous c.1295A>C:p.K432T was found. Only 1 het in gnomad v2 and v3.
no protein functional work was done
Sources: Literature
Mendeliome v0.10552 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17, MIM#615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493
Mendeliome v0.10551 PAK2 Zornitza Stark Gene: pak2 has been classified as Red List (Low Evidence).
Mendeliome v0.10551 PAK2 Zornitza Stark Classified gene: PAK2 as Red List (low evidence)
Mendeliome v0.10551 PAK2 Zornitza Stark Gene: pak2 has been classified as Red List (Low Evidence).
Mendeliome v0.10550 PAK2 Arina Puzriakova gene: PAK2 was added
gene: PAK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 33693784
Phenotypes for gene: PAK2 were set to Knobloch 2 syndrome
Review for gene: PAK2 was set to RED
Added comment: Antonarakis et al., 2021 (PMID: 33693784) reported two affected siblings from a non-consanguineous New Zealand family. Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. WES revealed a heterozygous PAK2 variant (c.1303 G>A, p.Glu435Lys) in both individuals that apparently occurred de novo indicating parental germ-line mosaicism; however, mosaicism could not be detected by deep sequencing of blood parental DNA. Functional studies showed that the variant, located in the kinase domain, results in a partial loss of the kinase activity.
Sources: Literature
Mendeliome v0.10550 OGDH Zornitza Stark Phenotypes for gene: OGDH were changed from Developmental delay; ataxia; seizure; raised lactate to Oxoglutarate dehydrogenase deficiency, MIM# 203740; Developmental delay; ataxia; seizure; raised lactate
Mendeliome v0.10549 OGDH Zornitza Stark edited their review of gene: OGDH: Changed phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740, Developmental delay, ataxia, seizure, raised lactate
Mendeliome v0.10549 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Mendeliome v0.10549 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10549 TBX2 Zornitza Stark Phenotypes for gene: TBX2 were changed from to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223
Mendeliome v0.10548 TBX2 Zornitza Stark Publications for gene: TBX2 were set to
Mendeliome v0.10547 TBX2 Zornitza Stark Mode of inheritance for gene: TBX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10546 TBX2 Zornitza Stark Classified gene: TBX2 as Amber List (moderate evidence)
Mendeliome v0.10546 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10545 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Mendeliome v0.10545 SLC27A4 Zornitza Stark Phenotypes for gene: SLC27A4 were changed from to Ichthyosis prematurity syndrome, MIM#608649
Mendeliome v0.10544 SLC27A4 Zornitza Stark Publications for gene: SLC27A4 were set to
Mendeliome v0.10543 SLC27A4 Zornitza Stark Mode of inheritance for gene: SLC27A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10542 SLC25A24 Zornitza Stark reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fontaine progeroid syndrome, MIM# 612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10542 TBX2 Krithika Murali changed review comment from: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted. Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).

PMID23727221 and PMID30223900 - TBX2 gene and TBX2 gene promoter sequencing in congenital heart disease cohorts versus controls - not enough supportive evidence for variant pathogenicity, including no segregation data. Variants prevalent in population databases also included as likely pathogenic.

PMID 20635360 - de novo dup 17q23.2 encompassing TBX2 gene in boy with cognitive impairment, multiple congenital defects and prenatal onset growth restriction. Part of BCAS3 gene (associated with autosomal recessive Hengel-Maroofian-Schols syndrome) also included in duplication. No supportive evidence of TBX2 gene function impairment in the patient provided.; to: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted. Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).

PMID23727221 and PMID30223900 - TBX2 gene and TBX2 gene promoter sequencing in congenital heart disease cohorts versus controls - not enough supportive evidence for variant pathogenicity, including no segregation data. Variants prevalent in population databases also included as potentially disease causing.

PMID 20635360 - de novo dup 17q23.2 encompassing TBX2 gene in boy with cognitive impairment, multiple congenital defects and prenatal onset growth restriction. Part of BCAS3 gene (associated with autosomal recessive Hengel-Maroofian-Schols syndrome) also included in duplication. No supportive evidence of TBX2 gene function impairment in the patient provided.
Mendeliome v0.10542 TBX2 Krithika Murali reviewed gene: TBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726930, 23727221, 20635360, 30223900; Phenotypes: Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10542 SLC27A4 Seb Lunke reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21856041, 19631310, 31168818; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10542 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Mendeliome v0.10542 SMAD6 Zornitza Stark Phenotypes for gene: SMAD6 were changed from to {Radioulnar synostosis, nonsyndromic} 179300; {Craniosynostosis 7, susceptibility to} 617439; Aortic valve disease 2 MIM# 614823
Mendeliome v0.10541 SMAD6 Zornitza Stark Publications for gene: SMAD6 were set to
Mendeliome v0.10540 SMAD6 Zornitza Stark Mode of inheritance for gene: SMAD6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10539 SMAD6 Zornitza Stark edited their review of gene: SMAD6: Changed phenotypes: {Radioulnar synostosis, nonsyndromic} 179300, {Craniosynostosis 7, susceptibility to} 617439, Aortic valve disease 2 MIM# 614823
Mendeliome v0.10539 SMAD6 Zornitza Stark reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31138930, 32499606, 27606499, 22275001, 28659821, 30963242, 30848080, 30796334; Phenotypes: {Radioulnar synostosis, nonsyndromic} 179300, {Craniosynostosis 7, susceptibility to} 617439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10539 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Green List (High Evidence).
Mendeliome v0.10539 SLC26A2 Seb Lunke Phenotypes for gene: SLC26A2 were changed from to Achondrogenesis 1B, MIM#600972; Atelosteogenesis, type II, MIM#256050; Diastrophic dysplasia, MIM#222600; Epiphyseal dysplasia, multiple, 4, MIM#226900
Mendeliome v0.10538 SLC26A2 Seb Lunke Publications for gene: SLC26A2 were set to
Mendeliome v0.10537 SLC26A2 Seb Lunke Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10536 SLC26A2 Seb Lunke reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689; Phenotypes: Achondrogenesis 1B, MIM#600972, Atelosteogenesis, type II, MIM#256050, Diastrophic dysplasia, MIM#222600, Epiphyseal dysplasia, multiple, 4, MIM#226900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10536 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Mendeliome v0.10536 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Mendeliome v0.10536 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from to Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Mendeliome v0.10535 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Mendeliome v0.10534 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10533 TUBB4A Zornitza Stark reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24850488, 23582646, 23424103, 23595291, 33084096, 32943487; Phenotypes: Dystonia 4, torsion, autosomal dominant, OMIM #128101, Leukodystrophy, hypomyelinating, 6, OMIM # 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10533 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Mendeliome v0.10533 TWIST1 Zornitza Stark Gene: twist1 has been classified as Green List (High Evidence).
Mendeliome v0.10533 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750
Mendeliome v0.10532 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Mendeliome v0.10531 TWIST1 Zornitza Stark Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10530 TWIST1 Zornitza Stark Tag SV/CNV tag was added to gene: TWIST1.
Tag 5'UTR tag was added to gene: TWIST1.
Mendeliome v0.10530 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17343269, 9585583, 12116251, 31299755, 30040876; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10530 SLC25A24 Seb Lunke Gene: slc25a24 has been classified as Green List (High Evidence).
Mendeliome v0.10530 SLC25A24 Seb Lunke Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, MIM#612289
Mendeliome v0.10529 SLC25A24 Seb Lunke Publications for gene: SLC25A24 were set to
Mendeliome v0.10528 SLC25A24 Seb Lunke Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10527 SLC25A24 Seb Lunke reviewed gene: SLC25A24: Rating: ; Mode of pathogenicity: None; Publications: 29100093, 29100094, 29100094, 31775791, 32732226, 32860237; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10527 ARHGEF10 Zornitza Stark Phenotypes for gene: ARHGEF10 were changed from to Slowed nerve conduction velocity, MIM# 608236
Mendeliome v0.10526 ARHGEF10 Zornitza Stark Publications for gene: ARHGEF10 were set to
Mendeliome v0.10525 ARHGEF10 Zornitza Stark Mode of pathogenicity for gene: ARHGEF10 was changed from to Other
Mendeliome v0.10524 ARHGEF10 Zornitza Stark Mode of inheritance for gene: ARHGEF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10523 ARHGEF10 Zornitza Stark edited their review of gene: ARHGEF10: Changed rating: AMBER
Mendeliome v0.10523 MBNL1 Zornitza Stark Gene: mbnl1 has been classified as Red List (Low Evidence).
Mendeliome v0.10523 MBNL1 Zornitza Stark Classified gene: MBNL1 as Red List (low evidence)
Mendeliome v0.10523 MBNL1 Zornitza Stark Gene: mbnl1 has been classified as Red List (Low Evidence).
Mendeliome v0.10522 MBNL1 Zornitza Stark reviewed gene: MBNL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10522 PDK3 Zornitza Stark Gene: pdk3 has been classified as Green List (High Evidence).
Mendeliome v0.10522 PDK3 Zornitza Stark Phenotypes for gene: PDK3 were changed from to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN
Mendeliome v0.10521 PDK3 Zornitza Stark Publications for gene: PDK3 were set to
Mendeliome v0.10520 PDK3 Zornitza Stark Mode of inheritance for gene: PDK3 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)
Mendeliome v0.10519 PDK3 Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: None
Mendeliome v0.10519 PRDM9 Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence).
Mendeliome v0.10519 PRDM9 Zornitza Stark Classified gene: PRDM9 as Green List (high evidence)
Mendeliome v0.10519 PRDM9 Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence).
Mendeliome v0.10518 PRDM9 Zornitza Stark gene: PRDM9 was added
gene: PRDM9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM9 were set to 34257419
Phenotypes for gene: PRDM9 were set to Inherited primary ovarian failure MONDO:0019852
Review for gene: PRDM9 was set to GREEN
Added comment: The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. PRDM9 is a meiosis-specific histone H3 methyltransferase and a major determinant of meiotic recombination hotspots in mammals. 3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination.
Sources: Literature
Mendeliome v0.10517 DZIP1L Zornitza Stark Gene: dzip1l has been classified as Green List (High Evidence).
Mendeliome v0.10517 DZIP1L Zornitza Stark Phenotypes for gene: DZIP1L were changed from to Polycystic kidney disease 5, MIM#617610
Mendeliome v0.10516 DZIP1L Zornitza Stark Publications for gene: DZIP1L were set to
Mendeliome v0.10515 DZIP1L Zornitza Stark Mode of inheritance for gene: DZIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10514 DZIP1L Zornitza Stark reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530676; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10514 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Mendeliome v0.10514 PPA2 Zornitza Stark Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Mendeliome v0.10513 PPA2 Zornitza Stark Publications for gene: PPA2 were set to
Mendeliome v0.10512 PPA2 Zornitza Stark Mode of inheritance for gene: PPA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10511 PPA2 Zornitza Stark reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10511 NAA20 Zornitza Stark Gene: naa20 has been classified as Green List (High Evidence).
Mendeliome v0.10511 NAA20 Zornitza Stark Classified gene: NAA20 as Green List (high evidence)
Mendeliome v0.10511 NAA20 Zornitza Stark Gene: naa20 has been classified as Green List (High Evidence).
Mendeliome v0.10510 NAA20 Zornitza Stark gene: NAA20 was added
gene: NAA20 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAA20 were set to 34230638
Phenotypes for gene: NAA20 were set to Intellectual disability; Microcephaly; Neurodevelopmental disorder MONDO:0700092
Review for gene: NAA20 was set to GREEN
Added comment: 2 consanguineous families with 5 affected individuals with developmental delay, intellectual disability, and microcephaly (-2-4SD). Exome and genome sequencing identified 2 different homozygous variants in NAA20 gene (p.Met54Val and p.Ala80Val), and segregated with affected individuals. N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the auxiliary subunit NAA25. Both NAA20-M54V and NAA20-A80V were impaired in their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates.
Sources: Literature
Mendeliome v0.10509 PLA2G7 Zornitza Stark Gene: pla2g7 has been classified as Red List (Low Evidence).
Mendeliome v0.10509 PLA2G7 Zornitza Stark Phenotypes for gene: PLA2G7 were changed from to Platelet-activating factor acetylhydrolase deficiency MIM#614278
Mendeliome v0.10508 PLA2G7 Zornitza Stark Publications for gene: PLA2G7 were set to
Mendeliome v0.10507 PLA2G7 Zornitza Stark Mode of inheritance for gene: PLA2G7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10506 PLA2G7 Zornitza Stark Classified gene: PLA2G7 as Red List (low evidence)
Mendeliome v0.10506 PLA2G7 Zornitza Stark Gene: pla2g7 has been classified as Red List (Low Evidence).
Mendeliome v0.10505 RAB23 Zornitza Stark Gene: rab23 has been classified as Green List (High Evidence).
Mendeliome v0.10505 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from to Carpenter syndrome (MIM#201000)
Mendeliome v0.10504 RAB23 Zornitza Stark Publications for gene: RAB23 were set to
Mendeliome v0.10503 RAB23 Zornitza Stark Mode of inheritance for gene: RAB23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10502 DSG1 Zornitza Stark Gene: dsg1 has been classified as Green List (High Evidence).
Mendeliome v0.10502 DSG1 Zornitza Stark Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Mendeliome v0.10501 DSG1 Zornitza Stark Publications for gene: DSG1 were set to
Mendeliome v0.10500 DSG1 Zornitza Stark Mode of inheritance for gene: DSG1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10499 DPF2 Zornitza Stark Gene: dpf2 has been classified as Green List (High Evidence).
Mendeliome v0.10499 DPF2 Zornitza Stark Phenotypes for gene: DPF2 were changed from to Coffin-Siris syndrome 7, MIM#618027
Mendeliome v0.10498 DPF2 Zornitza Stark Publications for gene: DPF2 were set to
Mendeliome v0.10497 DPF2 Zornitza Stark Mode of inheritance for gene: DPF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10496 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Mendeliome v0.10496 DNAJC19 Zornitza Stark Phenotypes for gene: DNAJC19 were changed from to 3-methylglutaconic aciduria, type V MIM#610198
Mendeliome v0.10495 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to
Mendeliome v0.10494 DNAJC19 Zornitza Stark Mode of inheritance for gene: DNAJC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10493 PLA2G7 Paul De Fazio reviewed gene: PLA2G7: Rating: RED; Mode of pathogenicity: None; Publications: 3198761, 10733466, 25587968, 28406212; Phenotypes: Platelet-activating factor acetylhydrolase deficiency MIM#614278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10493 RAB23 Naomi Baker reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10493 DSG1 Belinda Chong reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19558595, 29315490, 31192455, 23974871, 29229434, 33666035; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508), Keratosis palmoplantaris striata I, AD (MIM# 148700); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10493 KCNC1 Zornitza Stark Gene: kcnc1 has been classified as Green List (High Evidence).
Mendeliome v0.10493 KCNC1 Zornitza Stark Phenotypes for gene: KCNC1 were changed from to Epilepsy, progressive myoclonic 7 (MIM#616187); Intellectual disability; Movement disorders
Mendeliome v0.10492 KCNC1 Zornitza Stark Publications for gene: KCNC1 were set to 25401298
Mendeliome v0.10491 KCNC1 Zornitza Stark changed review comment from: Additional individuals reported with different variants, causing a broad range of neurological phenotypes including ID and movement disorders.; to: Additional individuals reported with different variants, causing a broad range of neurological phenotypes including ID and movement disorders.

Likely reflects different mechanisms (LoF vs GoF).
Mendeliome v0.10491 KCNC1 Zornitza Stark reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28145425, 31353862; Phenotypes: Intellectual disability, Movement disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10491 KCNC1 Zornitza Stark Publications for gene: KCNC1 were set to
Mendeliome v0.10490 KCNC1 Zornitza Stark Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10489 JAK3 Zornitza Stark Gene: jak3 has been classified as Green List (High Evidence).
Mendeliome v0.10489 JAK3 Zornitza Stark Phenotypes for gene: JAK3 were changed from to SCID, autosomal recessive, T-negative/B-positive type MIM# 600802
Mendeliome v0.10488 JAK3 Zornitza Stark Publications for gene: JAK3 were set to
Mendeliome v0.10487 JAK3 Zornitza Stark Mode of inheritance for gene: JAK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10486 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Mendeliome v0.10486 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570
Mendeliome v0.10485 GBE1 Zornitza Stark Publications for gene: GBE1 were set to
Mendeliome v0.10484 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10483 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8613547; Phenotypes: Glycogen storage disease IV, MIM# 232500, Polyglucosan body disease, adult form MIM#263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10483 KCNC1 Daniel Flanagan reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10483 DPF2 Belinda Chong reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10483 FREM1 Zornitza Stark Gene: frem1 has been classified as Green List (High Evidence).
Mendeliome v0.10483 FREM1 Zornitza Stark Phenotypes for gene: FREM1 were changed from to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485
Mendeliome v0.10482 FREM1 Zornitza Stark Publications for gene: FREM1 were set to
Mendeliome v0.10481 FREM1 Zornitza Stark Mode of inheritance for gene: FREM1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10480 FREM1 Zornitza Stark reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10480 FRAS1 Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence).
Mendeliome v0.10480 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000
Mendeliome v0.10479 FRAS1 Zornitza Stark Publications for gene: FRAS1 were set to
Mendeliome v0.10478 FRAS1 Zornitza Stark Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10477 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10477 DNAJC19 Belinda Chong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16055927, 17244376, 22797137; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10477 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Mendeliome v0.10477 SGPL1 Seb Lunke Publications for gene: SGPL1 were set to
Mendeliome v0.10476 SGPL1 Seb Lunke Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10475 SGPL1 Seb Lunke reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10475 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Mendeliome v0.10475 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Mendeliome v0.10474 FOXP3 Zornitza Stark Publications for gene: FOXP3 were set to
Mendeliome v0.10473 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10472 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11295725, 11137993, 33668198, 33614561, 33330291, 32234571; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10472 MMP3 Zornitza Stark Gene: mmp3 has been classified as Red List (Low Evidence).
Mendeliome v0.10472 MMP3 Zornitza Stark Phenotypes for gene: MMP3 were changed from to {Coronary heart disease, susceptibility to, 6} 614466
Mendeliome v0.10471 MMP3 Zornitza Stark Publications for gene: MMP3 were set to
Mendeliome v0.10470 MMP3 Zornitza Stark Classified gene: MMP3 as Red List (low evidence)
Mendeliome v0.10470 MMP3 Zornitza Stark Gene: mmp3 has been classified as Red List (Low Evidence).
Mendeliome v0.10469 MMP3 Paul De Fazio reviewed gene: MMP3: Rating: RED; Mode of pathogenicity: None; Publications: 12750310, 10351963; Phenotypes: {Coronary heart disease, susceptibility to, 6} 614466; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10469 LRAT Zornitza Stark Marked gene: LRAT as ready
Mendeliome v0.10469 LRAT Zornitza Stark Gene: lrat has been classified as Green List (High Evidence).
Mendeliome v0.10469 LRAT Zornitza Stark Phenotypes for gene: LRAT were changed from to Leber congenital amaurosis 14 MIM#613341; Retinal dystrophy, early-onset severe MIM#613341; Retinitis pigmentosa, juvenile MIM#613341
Mendeliome v0.10468 LRAT Zornitza Stark Publications for gene: LRAT were set to
Mendeliome v0.10467 LRAT Zornitza Stark Mode of inheritance for gene: LRAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10466 LRAT Zornitza Stark reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381255, 18055821, 22570351, 17011878, 29973277, 24625443, 22559933, 31448181; Phenotypes: Leber congenital amaurosis 14 MIM#613341, Retinal dystrophy, early-onset severe MIM#613341, Retinitis pigmentosa, juvenile MIM#613341; Mode of inheritance: None
Mendeliome v0.10466 GRM1 Zornitza Stark Gene: grm1 has been classified as Green List (High Evidence).
Mendeliome v0.10466 GRM1 Zornitza Stark Phenotypes for gene: GRM1 were changed from to Spinocerebellar ataxia 44 MIM#617691; Spinocerebellar ataxia, autosomal recessive 13 MIM#614831
Mendeliome v0.10465 GRM1 Zornitza Stark Publications for gene: GRM1 were set to
Mendeliome v0.10464 GRM1 Zornitza Stark Mode of inheritance for gene: GRM1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10463 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to 25152456; 29499165
Mendeliome v0.10462 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to 10581036; 10947946; 33862140
Mendeliome v0.10461 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Mendeliome v0.10461 GPX4 Zornitza Stark Phenotypes for gene: GPX4 were changed from to Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220
Mendeliome v0.10460 GPX4 Zornitza Stark Publications for gene: GPX4 were set to
Mendeliome v0.10459 GPX4 Zornitza Stark Mode of inheritance for gene: GPX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10458 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT to Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Intermediate CMT
Mendeliome v0.10457 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Andermann syndrome, Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800, Intermediate CMT
Mendeliome v0.10457 GPKOW Zornitza Stark Gene: gpkow has been classified as Red List (Low Evidence).
Mendeliome v0.10457 GPKOW Zornitza Stark Classified gene: GPKOW as Red List (low evidence)
Mendeliome v0.10457 GPKOW Zornitza Stark Gene: gpkow has been classified as Red List (Low Evidence).
Mendeliome v0.10456 GNA11 Zornitza Stark Gene: gna11 has been classified as Green List (High Evidence).
Mendeliome v0.10456 GNA11 Zornitza Stark Phenotypes for gene: GNA11 were changed from to Hypocalcemia, autosomal dominant 2 MIM#615361; Hypocalciuric hypercalcemia, type II MIM#145981
Mendeliome v0.10455 GNA11 Zornitza Stark Publications for gene: GNA11 were set to
Mendeliome v0.10454 GNA11 Zornitza Stark Mode of pathogenicity for gene: GNA11 was changed from to Other
Mendeliome v0.10453 GNA11 Zornitza Stark Mode of inheritance for gene: GNA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10452 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Mendeliome v0.10452 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphoedema-distichiasis syndrome, MIM# 153400
Mendeliome v0.10451 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Mendeliome v0.10450 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10449 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11078474, 11694548, 11371511; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10449 GRM1 Ain Roesley reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia 44 MIM#617691, Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10449 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10449 SLC17A5 Seb Lunke Publications for gene: SLC17A5 were set to 10581036; 10947946
Mendeliome v0.10448 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10448 GPX4 Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10448 GPKOW Ain Roesley gene: GPKOW was added
gene: GPKOW was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPKOW were set to 28612833
Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction
Penetrance for gene: GPKOW were set to unknown
Review for gene: GPKOW was set to RED
gene: GPKOW was marked as current diagnostic
Added comment: - multi-generational family with 5 deceased males (only 1 genotyped)
- X-exome sequencing identified NM_015698.4:c.331+5G>A, which segregated through the obligate carriers
- RNA from female carriers confirmed splicing defects, which leads to NMD

no additional reports since
Sources: Literature
Mendeliome v0.10448 GNA11 Ain Roesley reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23802536, 23802516, 24823460, 26818911, 27334330; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10448 HOXC13 Zornitza Stark Gene: hoxc13 has been classified as Green List (High Evidence).
Mendeliome v0.10448 HOXC13 Zornitza Stark Phenotypes for gene: HOXC13 were changed from to Ectodermal dysplasia 9, hair/nail type MIM#614931
Mendeliome v0.10447 HOXC13 Zornitza Stark Publications for gene: HOXC13 were set to
Mendeliome v0.10446 HOXC13 Zornitza Stark Mode of inheritance for gene: HOXC13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10445 FZD6 Zornitza Stark Gene: fzd6 has been classified as Green List (High Evidence).
Mendeliome v0.10445 FZD6 Zornitza Stark Phenotypes for gene: FZD6 were changed from to Nail disorder, nonsyndromic congenital, 1, MIM# 161050
Mendeliome v0.10444 FZD6 Zornitza Stark Publications for gene: FZD6 were set to
Mendeliome v0.10443 FZD6 Zornitza Stark Mode of inheritance for gene: FZD6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10442 FZD6 Zornitza Stark reviewed gene: FZD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665003, 23374899; Phenotypes: Nail disorder, nonsyndromic congenital, 1, MIM# 161050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10442 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10442 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Mendeliome v0.10442 SIX5 Zornitza Stark Publications for gene: SIX5 were set to 17357085; 33624842; 20301554; 24730701; 22447252
Mendeliome v0.10441 SIX5 Zornitza Stark Classified gene: SIX5 as Amber List (moderate evidence)
Mendeliome v0.10441 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10440 SIX5 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.
Mendeliome v0.10440 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: AMBER; Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668
Mendeliome v0.10440 SIX5 Zornitza Stark Gene: six5 has been classified as Green List (High Evidence).
Mendeliome v0.10440 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, MIM# 610896 to Branchiootorenal syndrome 2, MIM# 610896
Mendeliome v0.10439 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896
Mendeliome v0.10438 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Mendeliome v0.10437 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10436 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10436 SKI Seb Lunke Gene: ski has been classified as Green List (High Evidence).
Mendeliome v0.10436 SKI Seb Lunke Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM#182212
Mendeliome v0.10435 SKI Seb Lunke Publications for gene: SKI were set to
Mendeliome v0.10434 SKI Seb Lunke Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10433 SKI Seb Lunke changed review comment from: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.; to: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established as only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Mendeliome v0.10433 SKI Seb Lunke Deleted their comment
Mendeliome v0.10433 SKI Seb Lunke commented on gene: SKI: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Mendeliome v0.10433 SKI Seb Lunke reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 15884042, 23023332; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10433 KEL Zornitza Stark Gene: kel has been classified as Red List (Low Evidence).
Mendeliome v0.10433 KEL Zornitza Stark Phenotypes for gene: KEL were changed from to [Blood group, Kell] 110900
Mendeliome v0.10432 KEL Zornitza Stark Classified gene: KEL as Red List (low evidence)
Mendeliome v0.10432 KEL Zornitza Stark Gene: kel has been classified as Red List (Low Evidence).
Mendeliome v0.10431 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Mendeliome v0.10431 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mendeliome v0.10430 COX15 Zornitza Stark Publications for gene: COX15 were set to
Mendeliome v0.10429 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10428 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; 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
Mendeliome v0.10428 TECRL Zornitza Stark Marked gene: TECRL as ready
Mendeliome v0.10428 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Mendeliome v0.10428 TECRL Zornitza Stark Classified gene: TECRL as Green List (high evidence)
Mendeliome v0.10428 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Mendeliome v0.10427 TECRL Zornitza Stark gene: TECRL was added
gene: TECRL was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECRL were set to 17666061; 27861123; 30790670; 33367594
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Review for gene: TECRL was set to GREEN
Added comment: DEFINITIVE by ClinGen
Homozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence.
- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)
- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)
- 30790670 reported in a single family with one child with features of CPVT
-A multi-centre review published in 2020 provided an update on these cases and described two additional CPVT cases (homozygous p.Tyr197Ter nonsense variant and homozygous exon 2 deletion) and a family with three children with sudden cardiac death, where one was homozygous for the c.331+1G>A splice donor variant, PMID 33367594
Sources: Expert Review
Mendeliome v0.10426 KEL Ain Roesley reviewed gene: KEL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10426 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Mendeliome v0.10426 CCDC115 Zornitza Stark Phenotypes for gene: CCDC115 were changed from to Congenital disorder of glycosylation, type IIo (MIM# 616828)
Mendeliome v0.10425 CCDC115 Zornitza Stark Publications for gene: CCDC115 were set to
Mendeliome v0.10424 CCDC115 Zornitza Stark Mode of inheritance for gene: CCDC115 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10423 CCDC115 Zornitza Stark reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10423 C2orf71 Zornitza Stark Gene: c2orf71 has been classified as Green List (High Evidence).
Mendeliome v0.10423 C2orf71 Zornitza Stark Phenotypes for gene: C2orf71 were changed from to Retinitis pigmentosa 54, MIM# 613428
Mendeliome v0.10422 C2orf71 Zornitza Stark Publications for gene: C2orf71 were set to
Mendeliome v0.10421 C2orf71 Zornitza Stark Mode of inheritance for gene: C2orf71 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10420 C2orf71 Zornitza Stark reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: 20398886, 20398884, 24780881, 31819343, 29946172, 28763557; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420
Mendeliome v0.10419 SH3PXD2B Zornitza Stark Publications for gene: SH3PXD2B were set to
Mendeliome v0.10418 SH3PXD2B Zornitza Stark Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10417 SH3PXD2B Zornitza Stark reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10417 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Mendeliome v0.10417 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Mendeliome v0.10417 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078
Mendeliome v0.10416 SETBP1 Zornitza Stark Publications for gene: SETBP1 were set to
Mendeliome v0.10415 SETBP1 Zornitza Stark changed review comment from: GoF variants cause Schinzel-Giedion syndrome, whereas LoF variants cause SETBP1-haploinsufficiency syndrome, over 40 individuals reviewed in PMID 34807554.; to: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.

LoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554.
Mendeliome v0.10415 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10414 SETBP1 Zornitza Stark reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20436468, 25217958, 34807554; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150, Mental retardation, autosomal dominant 29, MIM# 616078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10414 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Mendeliome v0.10414 SCN4A Zornitza Stark Phenotypes for gene: SCN4A were changed from to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345; Myasthenic syndrome, congenital, 16, MIM# 614198; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Paramyotonia congenita , MIM#168300
Mendeliome v0.10413 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Mendeliome v0.10412 SCN4A Zornitza Stark Mode of inheritance for gene: SCN4A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10411 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34671263; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390, Paramyotonia congenita , MIM#168300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10411 ING1 Zornitza Stark Phenotypes for gene: ING1 were changed from to Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark edited their review of gene: ING1: Changed phenotypes: Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark reviewed gene: ING1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10410 TRAP1 Zornitza Stark Marked gene: TRAP1 as ready
Mendeliome v0.10410 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Mendeliome v0.10410 TRAP1 Zornitza Stark Phenotypes for gene: TRAP1 were changed from to CAKUT; VACTERL
Mendeliome v0.10409 TRAP1 Zornitza Stark Publications for gene: TRAP1 were set to
Mendeliome v0.10408 TRAP1 Zornitza Stark Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10407 TRAP1 Zornitza Stark reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10407 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Mendeliome v0.10407 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659
Mendeliome v0.10406 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Mendeliome v0.10405 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 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)
Mendeliome v0.10404 BRWD3 Zornitza Stark changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.; to: More than 10 unrelated families reported with ID, overgrowth, and in particular macrocephaly.
Mendeliome v0.10404 BRWD3 Zornitza Stark changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly reported.; to: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.
Mendeliome v0.10404 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM # 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10404 ING1 Seb Lunke Deleted their comment
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment when marking as ready: Cancer association only. Red for mendeliome.
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Mendeliome v0.10404 ING1 Seb Lunke Classified gene: ING1 as Red List (low evidence)
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment on list classification: Cancer association only
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Mendeliome v0.10403 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Mendeliome v0.10403 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600
Mendeliome v0.10402 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Mendeliome v0.10401 BCKDHB Zornitza Stark Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10400 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10400 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Mendeliome v0.10400 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600
Mendeliome v0.10399 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Mendeliome v0.10398 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10397 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10397 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10397 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Mendeliome v0.10396 FSCN2 Seb Lunke Publications for gene: FSCN2 were set to
Mendeliome v0.10395 FSCN2 Seb Lunke Mode of inheritance for gene: FSCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10394 FSCN2 Seb Lunke Classified gene: FSCN2 as Red List (low evidence)
Mendeliome v0.10394 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10394 FSCN2 Seb Lunke Classified gene: FSCN2 as Red List (low evidence)
Mendeliome v0.10394 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10393 FSCN2 Seb Lunke reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10393 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM#615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Mendeliome v0.10392 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Mendeliome v0.10392 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Mendeliome v0.10392 AUH Zornitza Stark Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Mendeliome v0.10391 AUH Zornitza Stark Publications for gene: AUH were set to
Mendeliome v0.10390 AUH Zornitza Stark Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10389 AUH Zornitza Stark reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10389 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10389 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Mendeliome v0.10389 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.; to: Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10389 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10388 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10387 ATP8B1 Zornitza Stark Publications for gene: ATP8B1 were set to
Mendeliome v0.10386 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300
Mendeliome v0.10385 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10384 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15239083; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10384 RNF213 Zornitza Stark Gene: rnf213 has been classified as Green List (High Evidence).
Mendeliome v0.10384 RNF213 Zornitza Stark Phenotypes for gene: RNF213 were changed from to Susceptibility to Moyamoya disease 2, (MIM# 607151)
Mendeliome v0.10383 RNF213 Zornitza Stark Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10382 DRD5 Zornitza Stark Gene: drd5 has been classified as Red List (Low Evidence).
Mendeliome v0.10382 DRD5 Zornitza Stark Classified gene: DRD5 as Red List (low evidence)
Mendeliome v0.10382 DRD5 Zornitza Stark Gene: drd5 has been classified as Red List (Low Evidence).
Mendeliome v0.10381 AXIN1 Zornitza Stark Gene: axin1 has been classified as Red List (Low Evidence).
Mendeliome v0.10381 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from to Caudal duplication anomaly, MIM# 607864
Mendeliome v0.10380 AXIN1 Zornitza Stark Publications for gene: AXIN1 were set to
Mendeliome v0.10379 AXIN1 Zornitza Stark Classified gene: AXIN1 as Red List (low evidence)
Mendeliome v0.10379 AXIN1 Zornitza Stark Gene: axin1 has been classified as Red List (Low Evidence).
Mendeliome v0.10378 AXIN1 Zornitza Stark reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: 9335612; Phenotypes: Caudal duplication anomaly, MIM# 607864; Mode of inheritance: None
Mendeliome v0.10378 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Mendeliome v0.10378 ASL Zornitza Stark Publications for gene: ASL were set to
Mendeliome v0.10377 ASL Zornitza Stark Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Mendeliome v0.10376 ASL Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10375 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Mendeliome v0.10375 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism
Mendeliome v0.10374 ARG1 Zornitza Stark Publications for gene: ARG1 were set to
Mendeliome v0.10373 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10372 TWIST2 Zornitza Stark Marked gene: TWIST2 as ready
Mendeliome v0.10372 TWIST2 Zornitza Stark Gene: twist2 has been classified as Green List (High Evidence).
Mendeliome v0.10372 TWIST2 Zornitza Stark Phenotypes for gene: TWIST2 were changed from to Ablepharon-macrostomia syndrome, MIM# 200110; Barber-Say syndrome, MIM# 209885; Focal facial dermal dysplasia 3, Setleis type, MIM# 227260
Mendeliome v0.10371 TWIST2 Zornitza Stark Publications for gene: TWIST2 were set to
Mendeliome v0.10370 TWIST2 Zornitza Stark Mode of inheritance for gene: TWIST2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10369 TWIST2 Zornitza Stark reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403, 21931173, 26119818; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10369 RNF213 Ain Roesley reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: 28635953; Phenotypes: usceptibility to Moyamoya disease 2, (MIM# 607151); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10369 DRD5 Ain Roesley reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10369 AXIN1 Ain Roesley reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10369 APTX Zornitza Stark Marked gene: APTX as ready
Mendeliome v0.10369 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Mendeliome v0.10369 APTX Zornitza Stark Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Mendeliome v0.10368 APTX Zornitza Stark Publications for gene: APTX were set to
Mendeliome v0.10367 APTX Zornitza Stark Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10366 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Mendeliome v0.10365 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to
Mendeliome v0.10364 ALDH4A1 Zornitza Stark Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10363 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9700195, 34037900, 31884946; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10363 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Mendeliome v0.10363 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Mendeliome v0.10362 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Mendeliome v0.10361 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10360 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10360 CSTF2 Zornitza Stark Marked gene: CSTF2 as ready
Mendeliome v0.10360 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10360 CSTF2 Zornitza Stark Classified gene: CSTF2 as Amber List (moderate evidence)
Mendeliome v0.10360 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10359 CSTF2 Zornitza Stark gene: CSTF2 was added
gene: CSTF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CSTF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CSTF2 were set to 32816001
Phenotypes for gene: CSTF2 were set to Intellectual disability
Review for gene: CSTF2 was set to AMBER
Added comment: Four individuals from a single family, spanning two generations, segregating a missense variant. Functional data, including a mouse model and a gene reporter assay.
Sources: Literature
Mendeliome v0.10358 ALAD Zornitza Stark Gene: alad has been classified as Green List (High Evidence).
Mendeliome v0.10358 ALAD Zornitza Stark Phenotypes for gene: ALAD were changed from to Porphyria, acute hepatic , MIM#612740
Mendeliome v0.10357 ALAD Zornitza Stark Publications for gene: ALAD were set to
Mendeliome v0.10356 ALAD Zornitza Stark Mode of inheritance for gene: ALAD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10355 ALAD Zornitza Stark reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10355 HMGCR Zornitza Stark Phenotypes for gene: HMGCR were changed from to [Low density lipoprotein cholesterol level QTL 3]
Mendeliome v0.10354 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10354 HMGCR Zornitza Stark Publications for gene: HMGCR were set to
Mendeliome v0.10353 HMGCR Zornitza Stark Classified gene: HMGCR as Red List (low evidence)
Mendeliome v0.10353 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10352 HMGCR Lucy Spencer reviewed gene: HMGCR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18354102, 29480216; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10352 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Mendeliome v0.10352 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Mendeliome v0.10351 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Mendeliome v0.10350 FLVCR2 Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10349 FLVCR2 Zornitza Stark reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10349 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Mendeliome v0.10349 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Mendeliome v0.10349 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from to Congenital heart defects, multiple types, 7, MIM# 618780; Lymphatic malformation 1, MIM# 153100
Mendeliome v0.10348 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Mendeliome v0.10347 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10346 FLT4 Zornitza Stark reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9817924, 10835628, 12960217, 30232381; Phenotypes: Congenital heart defects, multiple types, 7, MIM# 618780, Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10346 RNF212 Zornitza Stark Phenotypes for gene: RNF212 were changed from Recombination rate QTL 1, MIM#612042 to Recombination rate QTL 1, MIM#612042; Spermatogenic failure 62, MIM# 619673
Mendeliome v0.10345 RNF212 Zornitza Stark Publications for gene: RNF212 were set to 18239089; 29277047
Mendeliome v0.10344 RNF212 Zornitza Stark Mode of inheritance for gene: RNF212 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10343 RNF212 Zornitza Stark reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 31125047, 23396135; Phenotypes: Spermatogenic failure 62, MIM# 619673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10343 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723 to Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672
Mendeliome v0.10342 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Mendeliome v0.10341 STAG3 Zornitza Stark reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31125047, 31682730, 32634216; Phenotypes: Spermatogenic failure 61, MIM# 619672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10341 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Mendeliome v0.10341 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100; Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895)
Mendeliome v0.10340 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Mendeliome v0.10339 FBLN5 Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10338 FBLN5 Zornitza Stark changed review comment from: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).

Neuropathy +/- macular degeneration:
PMID: 32757322
- 38 individuals from 19 families
- all missense, R373C, D329V and R331H
- some carriers were subjectively healthy although pes cavus, diminished or absent deep tendon reflexesor NCV studies indicate peripheral neuropathy

PMID: 31945625
- 1 family with 2 affecteds, R373C
- 1 obligate carrier presented no symptoms

PMID: 28332470
- 3 affecteds in 1 family with R373C; to: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).
Mendeliome v0.10338 FBLN5 Zornitza Stark reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618961, 3232707, 22829427, 11805835, 32757322, 31945625, 23328402, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100, Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10338 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from Cantú Syndrome to Cantú Syndrome
Mendeliome v0.10337 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from Brugada syndrome to Cantú Syndrome
Mendeliome v0.10336 KCNJ8 Zornitza Stark Publications for gene: KCNJ8 were set to 29959160
Mendeliome v0.10335 KCNJ8 Zornitza Stark Mode of pathogenicity for gene: KCNJ8 was changed from to Other
Mendeliome v0.10334 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Green List (high evidence)
Mendeliome v0.10334 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Mendeliome v0.10333 KCNJ8 Daniel Flanagan reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10333 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Mendeliome v0.10333 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Mendeliome v0.10333 CITED2 Zornitza Stark Phenotypes for gene: CITED2 were changed from to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431
Mendeliome v0.10332 CITED2 Zornitza Stark Publications for gene: CITED2 were set to
Mendeliome v0.10331 CITED2 Zornitza Stark Mode of inheritance for gene: CITED2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10330 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10330 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Mendeliome v0.10330 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, OMIM #615851
Mendeliome v0.10329 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Mendeliome v0.10328 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10327 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence).
Mendeliome v0.10327 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Mendeliome v0.10326 NKX2-6 Zornitza Stark Publications for gene: NKX2-6 were set to
Mendeliome v0.10325 NKX2-6 Zornitza Stark Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10324 WNT10B Zornitza Stark Phenotypes for gene: WNT10B were changed from to Split-hand/foot malformation 6, OMIM #601906; Tooth agenesis, selective, 8, OMIM #617073
Mendeliome v0.10323 WNT10B Zornitza Stark Publications for gene: WNT10B were set to
Mendeliome v0.10322 WNT10B Zornitza Stark Mode of inheritance for gene: WNT10B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10321 CITED2 Krithika Murali reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10321 YY1 Zornitza Stark Gene: yy1 has been classified as Green List (High Evidence).
Mendeliome v0.10321 YY1 Zornitza Stark Phenotypes for gene: YY1 were changed from to Gabriele-de Vries syndrome, OMIM #617557
Mendeliome v0.10320 YY1 Zornitza Stark Publications for gene: YY1 were set to
Mendeliome v0.10319 YY1 Zornitza Stark Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10318 NKX2-6 Krithika Murali reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10318 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Mendeliome v0.10318 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant MIM#272750
Mendeliome v0.10317 GM2A Zornitza Stark Publications for gene: GM2A were set to
Mendeliome v0.10316 GM2A Zornitza Stark Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10315 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
Mendeliome v0.10314 GFRA1 Zornitza Stark Classified gene: GFRA1 as Green List (high evidence)
Mendeliome v0.10314 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Changed rating: GREEN; Changed publications: 33020172, 34737117
Mendeliome v0.10313 VPS53 Alison Yeung Gene: vps53 has been classified as Green List (High Evidence).
Mendeliome v0.10313 VPS53 Alison Yeung reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10313 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GLI1 Zornitza Stark Classified gene: GLI1 as Green List (high evidence)
Mendeliome v0.10313 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Mendeliome v0.10312 WNT10B Alison Yeung Marked gene: WNT10B as ready
Mendeliome v0.10312 WNT10B Alison Yeung Gene: wnt10b has been classified as Green List (High Evidence).
Mendeliome v0.10312 WNT10B Alison Yeung reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 24211389, 27321946; Phenotypes: Split-hand/foot malformation 6, OMIM #601906, Tooth agenesis, selective, 8, OMIM #617073; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10312 FAM126A Belinda Chong reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21911699, 17928815, 17683097, 16951682; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10312 YY1 Alison Yeung reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10312 GM2A Ain Roesley reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28417072, 28192816, 27402091, 33819415; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10312 GLI1 Ain Roesley gene: GLI1 was added
gene: GLI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLI1 were set to 34721536; 31621941; 31549748; 30620395
Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400
Penetrance for gene: GLI1 were set to unknown
Review for gene: GLI1 was set to GREEN
gene: GLI1 was marked as current diagnostic
Added comment: >10 unrelated probands reported, both AD and AR reported
Sources: Literature
Mendeliome v0.10312 GFRA1 Ain Roesley reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Marked gene: ADAMTS2 as ready
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Gene: adamts2 has been classified as Green List (High Evidence).
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
Mendeliome v0.10311 ADAMTS2 Zornitza Stark Publications for gene: ADAMTS2 were set to
Mendeliome v0.10310 ADAMTS2 Zornitza Stark Mode of inheritance for gene: ADAMTS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10309 ADAMTS2 Zornitza Stark reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10309 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Mendeliome v0.10308 AIPL1 Zornitza Stark edited their review of gene: AIPL1: Changed phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393
Mendeliome v0.10308 AGA Zornitza Stark changed review comment from: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Multiple families and mouse model.; to: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive ID. Multiple families and mouse model.
Mendeliome v0.10308 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Mendeliome v0.10308 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Mendeliome v0.10308 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
Mendeliome v0.10307 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10306 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10306 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Mendeliome v0.10306 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mendeliome v0.10305 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Mendeliome v0.10304 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10303 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10303 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Mendeliome v0.10303 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Mendeliome v0.10302 ACADM Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10301 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10301 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Mendeliome v0.10301 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Mendeliome v0.10300 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Mendeliome v0.10299 CYP26B1 Zornitza Stark Mode of inheritance for gene: CYP26B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10298 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10298 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Mendeliome v0.10298 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Mendeliome v0.10298 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Mendeliome v0.10297 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Mendeliome v0.10296 CTU2 Zornitza Stark Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10295 CTU2 Zornitza Stark reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27480277, 26633546, 31301155; Phenotypes: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10295 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Mendeliome v0.10295 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Mendeliome v0.10295 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Mendeliome v0.10294 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to
Mendeliome v0.10293 CTDP1 Zornitza Stark Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10292 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Tag founder tag was added to gene: CTDP1.
Mendeliome v0.10292 CTDP1 Zornitza Stark reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14517542, 24690360, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10292 CRELD1 Zornitza Stark Classified gene: CRELD1 as Amber List (moderate evidence)
Mendeliome v0.10292 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10291 CRELD1 Zornitza Stark commented on gene: CRELD1: Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.
Mendeliome v0.10291 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed rating: AMBER
Mendeliome v0.10291 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Mendeliome v0.10291 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Mendeliome v0.10290 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
Mendeliome v0.10290 SPIDR Zornitza Stark Gene: spidr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10290 SPIDR Zornitza Stark Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665
Mendeliome v0.10289 SPIDR Zornitza Stark reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10289 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Mendeliome v0.10288 KIF12 Zornitza Stark edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Mendeliome v0.10288 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, OMIM #612726 to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068
Mendeliome v0.10287 MED12 Zornitza Stark edited their review of gene: MED12: Changed phenotypes: Hardikar syndrome, MIM# 301068
Mendeliome v0.10287 TNR Zornitza Stark Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Mendeliome v0.10286 TNR Zornitza Stark edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus
Mendeliome v0.10286 HHAT Eleanor Williams commented on gene: HHAT
Mendeliome v0.10286 CTSB Zornitza Stark Marked gene: CTSB as ready
Mendeliome v0.10286 CTSB Zornitza Stark Gene: ctsb has been classified as Red List (Low Evidence).
Mendeliome v0.10286 CTSB Zornitza Stark Phenotypes for gene: CTSB were changed from to Keratolytic winter erythema, MIM# 148370
Mendeliome v0.10285 CTSB Zornitza Stark Publications for gene: CTSB were set to
Mendeliome v0.10284 CTSB Zornitza Stark Mode of inheritance for gene: CTSB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10283 CTSB Zornitza Stark Classified gene: CTSB as Red List (low evidence)
Mendeliome v0.10283 CTSB Zornitza Stark Gene: ctsb has been classified as Red List (Low Evidence).
Mendeliome v0.10282 CTSB Zornitza Stark Tag SV/CNV tag was added to gene: CTSB.
Mendeliome v0.10282 CTSB Zornitza Stark reviewed gene: CTSB: Rating: RED; Mode of pathogenicity: None; Publications: 28457472; Phenotypes: Keratolytic winter erythema, MIM# 148370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10282 ITSN1 Zornitza Stark Phenotypes for gene: ITSN1 were changed from 29773874 to Nephrotic syndrome
Mendeliome v0.10281 ITSN1 Zornitza Stark Publications for gene: ITSN1 were set to
Mendeliome v0.10280 ITSN1 Zornitza Stark edited their review of gene: ITSN1: Changed publications: 29773874; Changed phenotypes: Nephrotic syndrome
Mendeliome v0.10280 MSR1 Zornitza Stark Gene: msr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10280 MSR1 Zornitza Stark Phenotypes for gene: MSR1 were changed from to Barrett esophagus/esophageal adenocarcinoma, MIM# 614266
Mendeliome v0.10279 MSR1 Zornitza Stark Publications for gene: MSR1 were set to
Mendeliome v0.10278 MSR1 Zornitza Stark Mode of inheritance for gene: MSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10277 MSR1 Zornitza Stark Classified gene: MSR1 as Red List (low evidence)
Mendeliome v0.10277 MSR1 Zornitza Stark Gene: msr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10276 MSR1 Zornitza Stark reviewed gene: MSR1: Rating: RED; Mode of pathogenicity: None; Publications: 12958598, 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma, MIM# 614266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10276 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Mendeliome v0.10276 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8, MIM# 617319
Mendeliome v0.10275 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Mendeliome v0.10274 CPAMD8 Zornitza Stark Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10273 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10273 USP53 Zornitza Stark Publications for gene: USP53 were set to 30250217; 32124521
Mendeliome v0.10272 USP53 Zornitza Stark changed review comment from: Another 7 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). One individual had deafness.; to: Another 11 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). Childhood-onset deafness reported in two families.
Mendeliome v0.10272 USP53 Zornitza Stark edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013
Mendeliome v0.10272 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Mendeliome v0.10271 USP53 Zornitza Stark edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 619658
Mendeliome v0.10271 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Green List (High Evidence).
Mendeliome v0.10271 HOXB1 Zornitza Stark Publications for gene: HOXB1 were set to
Mendeliome v0.10270 HOXB1 Zornitza Stark Phenotypes for gene: HOXB1 were changed from to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880
Mendeliome v0.10269 HOXB1 Zornitza Stark Mode of inheritance for gene: HOXB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10268 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10268 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Mendeliome v0.10268 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340
Mendeliome v0.10267 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Mendeliome v0.10266 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10265 COLEC10 Zornitza Stark reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301481, 34740859; Phenotypes: 3MC syndrome 3, MONDO:0009554, 3MC syndrome 3, OMIM:248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10265 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Mendeliome v0.10265 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from to Mental retardation, autosomal dominant 34, MIM# 616351
Mendeliome v0.10264 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Mendeliome v0.10263 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10262 COL4A3BP Zornitza Stark reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10262 MIB1 Zornitza Stark Publications for gene: MIB1 were set to 23314057; 30322850
Mendeliome v0.10261 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Mendeliome v0.10261 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10260 MIB1 Zornitza Stark changed review comment from: Comment when marking as ready: Amber for LVNC/cardiomyopathy. Green for congenital heart disease.; to: Comment when marking as ready: RED for LVNC/cardiomyopathy. Amber for congenital heart disease.
Mendeliome v0.10260 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Mendeliome v0.10260 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Mendeliome v0.10260 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, MIM# 259050
Mendeliome v0.10259 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Mendeliome v0.10258 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 ZBTB20 Zornitza Stark reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 MIB1 Chern Lim changed review comment from: Luxan 2013 (PMID: 23314057):
- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets).
- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

DCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.

De Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.

Kaplanis 2021 (PMID: 33057194): Developmental disorders paper.
- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent, GeneDx), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).
- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.; to: Luxan 2013 (PMID: 23314057):
- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets).
- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

DCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.

De Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.

Kaplanis 2021 (PMID: 33057194): Developmental disorders paper.
- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).
- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.
Mendeliome v0.10257 MIB1 Chern Lim reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057, 30322850, 23033978, 33057194; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 ABO Zornitza Stark Gene: abo has been classified as Red List (Low Evidence).
Mendeliome v0.10257 ABO Zornitza Stark Phenotypes for gene: ABO were changed from to [Blood group, ABO system] MIM#616093
Mendeliome v0.10256 ABO Zornitza Stark Classified gene: ABO as Red List (low evidence)
Mendeliome v0.10256 ABO Zornitza Stark Gene: abo has been classified as Red List (Low Evidence).
Mendeliome v0.10255 TLR1 Zornitza Stark Marked gene: TLR1 as ready
Mendeliome v0.10255 TLR1 Zornitza Stark Gene: tlr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10255 TLR1 Zornitza Stark Phenotypes for gene: TLR1 were changed from to Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223
Mendeliome v0.10254 TLR1 Zornitza Stark Classified gene: TLR1 as Red List (low evidence)
Mendeliome v0.10254 TLR1 Zornitza Stark Gene: tlr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10253 REL Zornitza Stark Phenotypes for gene: REL were changed from Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity to Immunodeficiency 92, MIM# 619652; Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Mendeliome v0.10252 REL Zornitza Stark Publications for gene: REL were set to 31103457
Mendeliome v0.10251 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Mendeliome v0.10251 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10250 REL Zornitza Stark changed review comment from: Second unrelated individual reported, homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; to: Second unrelated individual reported, with a different homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.
Mendeliome v0.10250 REL Zornitza Stark edited their review of gene: REL: Added comment: Second unrelated individual reported, homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; Changed rating: AMBER; Changed publications: 31103457, 34623332; Changed phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity
Mendeliome v0.10250 ABO Paul De Fazio reviewed gene: ABO: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, ABO system] MIM#616093; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10250 TLR1 Paul De Fazio reviewed gene: TLR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10250 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807
Mendeliome v0.10249 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Mendeliome v0.10249 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10248 SLC26A5 Zornitza Stark commented on gene: SLC26A5: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory. This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209). Classified as LIMITED by ClinGen in 2017.
Mendeliome v0.10248 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Mendeliome v0.10248 SEMA7A Zornitza Stark Added comment: Comment when marking as ready: AMBER for PFIC. RED for other associations.
Mendeliome v0.10248 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10248 SEMA7A Zornitza Stark Phenotypes for gene: SEMA7A were changed from to Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis
Mendeliome v0.10247 SEMA7A Zornitza Stark Publications for gene: SEMA7A were set to
Mendeliome v0.10246 SEMA7A Zornitza Stark Mode of inheritance for gene: SEMA7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10245 SEMA7A Zornitza Stark Classified gene: SEMA7A as Amber List (moderate evidence)
Mendeliome v0.10245 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10244 SEMA7A Paul De Fazio edited their review of gene: SEMA7A: Changed rating: AMBER
Mendeliome v0.10244 SEMA7A Paul De Fazio changed review comment from: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.

Low evidence for association with disease.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype.

Rated amber due to 1 patient and mouse model in PMID:34585848.
Mendeliome v0.10244 SEMA7A Paul De Fazio changed review comment from: There is no conclusive evidence of association with monogenic disease for this gene.

Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.

Low evidence for association with disease.
Mendeliome v0.10244 SEMA7A Paul De Fazio reviewed gene: SEMA7A: Rating: RED; Mode of pathogenicity: None; Publications: 16372136, 31650878, 34585848; Phenotypes: Decreased bone mineral density, Kallmann syndrome, progressive familial intrahepatic cholestasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10244 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Mendeliome v0.10244 CLMP Zornitza Stark Phenotypes for gene: CLMP were changed from to Congenital short bowel syndrome , MIM#615237
Mendeliome v0.10243 CLMP Zornitza Stark Publications for gene: CLMP were set to
Mendeliome v0.10242 CLMP Zornitza Stark Mode of inheritance for gene: CLMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10241 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10241 ERF Zornitza Stark Gene: erf has been classified as Green List (High Evidence).
Mendeliome v0.10241 ERF Zornitza Stark Phenotypes for gene: ERF were changed from to Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180
Mendeliome v0.10240 ERF Zornitza Stark Publications for gene: ERF were set to
Mendeliome v0.10239 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10238 ERF Zornitza Stark edited their review of gene: ERF: Changed phenotypes: Craniosynostosis 4, MIM# 600775, Chitayat syndrome, MIM# 617180
Mendeliome v0.10238 ERF Zornitza Stark reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354439, 26097063, 32370745, 30758909, 27738187; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10238 EOGT Zornitza Stark Marked gene: EOGT as ready
Mendeliome v0.10238 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Mendeliome v0.10238 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, MIM#615297
Mendeliome v0.10237 EOGT Zornitza Stark Publications for gene: EOGT were set to
Mendeliome v0.10236 EOGT Zornitza Stark Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10235 EOGT Zornitza Stark reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23522784, 31368252, 29924900, 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10235 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Mendeliome v0.10235 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050
Mendeliome v0.10234 ADSL Zornitza Stark Publications for gene: ADSL were set to
Mendeliome v0.10233 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10232 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Mendeliome v0.10232 KCND2 Zornitza Stark Phenotypes for gene: KCND2 were changed from global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250
Mendeliome v0.10231 KCND2 Zornitza Stark Classified gene: KCND2 as Green List (high evidence)
Mendeliome v0.10231 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Mendeliome v0.10230 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Mendeliome v0.10230 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Mendeliome v0.10230 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Mendeliome v0.10229 EYA1 Zornitza Stark Publications for gene: EYA1 were set to
Mendeliome v0.10228 EYA1 Zornitza Stark Mode of inheritance for gene: EYA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10227 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10227 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Mendeliome v0.10227 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Mendeliome v0.10226 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Mendeliome v0.10225 FBXL4 Zornitza Stark Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10224 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Mendeliome v0.10224 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Mendeliome v0.10224 GALE Zornitza Stark Phenotypes for gene: GALE were changed from to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism
Mendeliome v0.10223 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Mendeliome v0.10223 GALE Zornitza Stark Publications for gene: GALE were set to
Mendeliome v0.10222 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Mendeliome v0.10221 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Mendeliome v0.10220 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10219 FREM2 Zornitza Stark Gene: frem2 has been classified as Green List (High Evidence).
Mendeliome v0.10219 FREM2 Zornitza Stark Phenotypes for gene: FREM2 were changed from to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666
Mendeliome v0.10218 FREM2 Zornitza Stark Publications for gene: FREM2 were set to
Mendeliome v0.10217 FREM2 Zornitza Stark Mode of inheritance for gene: FREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10216 GALE Zornitza Stark Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10215 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism
Mendeliome v0.10214 GALK1 Zornitza Stark Publications for gene: GALK1 were set to
Mendeliome v0.10213 ERCC6 Belinda Chong reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516 20456449 9443879 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10213 GALK1 Zornitza Stark Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10212 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Mendeliome v0.10212 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Mendeliome v0.10212 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Mendeliome v0.10211 GATA4 Zornitza Stark Publications for gene: GATA4 were set to
Mendeliome v0.10210 GATA4 Zornitza Stark Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10209 Zornitza Stark removed gene:NPC1 from the panel
Mendeliome v0.10208 COMT Zornitza Stark Marked gene: COMT as ready
Mendeliome v0.10208 COMT Zornitza Stark Gene: comt has been classified as Red List (Low Evidence).
Mendeliome v0.10208 COMT Zornitza Stark Classified gene: COMT as Red List (low evidence)
Mendeliome v0.10208 COMT Zornitza Stark Gene: comt has been classified as Red List (Low Evidence).
Mendeliome v0.10207 FAT4 Ain Roesley reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10207 FBXL4 Ain Roesley reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10207 UBE4A Zornitza Stark Phenotypes for gene: UBE4A were changed from Intellectual disability and global developmental delay to Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639
Mendeliome v0.10206 UBE4A Zornitza Stark edited their review of gene: UBE4A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639
Mendeliome v0.10206 FOXRED1 Ain Roesley reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10206 FREM2 Ain Roesley reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10206 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections; monocytosis; susceptibility to mycobacterial infection to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendeliome v0.10205 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendeliome v0.10205 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Mendeliome v0.10204 SMAD2 Zornitza Stark reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10204 GATA4 Ain Roesley reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10204 NPC1 Daniel Flanagan gene: NPC1 was added
gene: NPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 12408188; 9211849
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/ type D (MIM#257220)
Review for gene: NPC1 was set to GREEN
Added comment: Biallelic NPC1 variants cause Niemann-Pick disease, type C1/ type D. Prenatal manifestation: hydrops fetalis.
Sources: Literature
Mendeliome v0.10204 COMT Ain Roesley reviewed gene: COMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10204 KCND2 Eleanor Williams gene: KCND2 was added
gene: KCND2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260
Phenotypes for gene: KCND2 were set to global developmental delay, HP:0001263; seizure, HP:0001250
Mode of pathogenicity for gene: KCND2 was set to Other
Review for gene: KCND2 was set to GREEN
Added comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.

PMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M.

PMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.

PMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant.
Sources: Literature
Mendeliome v0.10204 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Mendeliome v0.10204 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896
Mendeliome v0.10203 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to
Mendeliome v0.10202 EIF2B2 Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10201 EIF2B2 Zornitza Stark changed review comment from: Multiple families reported, marked phenotypic variability.; to: Multiple families reported, marked phenotypic variability, age of onset from infancy to adulthood.
Mendeliome v0.10201 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21484434, 14566705, 28041799, 30266093, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896, Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10201 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Green List (High Evidence).
Mendeliome v0.10201 CHRNB2 Zornitza Stark Phenotypes for gene: CHRNB2 were changed from to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375
Mendeliome v0.10200 CHRNB2 Zornitza Stark Publications for gene: CHRNB2 were set to
Mendeliome v0.10199 CHRNB2 Zornitza Stark Mode of inheritance for gene: CHRNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10198 CHRNB2 Zornitza Stark reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3, MIM# 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10198 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Mendeliome v0.10198 CHRNB1 Zornitza Stark Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Mendeliome v0.10197 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Mendeliome v0.10196 CHRNB1 Zornitza Stark Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10195 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10195 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Mendeliome v0.10194 CHRNA3 Zornitza Stark changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families.

Onset is in utero or early childhood.

Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.
Mendeliome v0.10194 CHD8 Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence).
Mendeliome v0.10194 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Mendeliome v0.10193 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Mendeliome v0.10192 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10191 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10191 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Mendeliome v0.10191 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963
Mendeliome v0.10190 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Mendeliome v0.10189 CCDC22 Zornitza Stark Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10188 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10188 CFAP65 Zornitza Stark Publications for gene: CFAP65 were set to 31501240; 31413122
Mendeliome v0.10187 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
Mendeliome v0.10187 RNF212 Zornitza Stark Phenotypes for gene: RNF212 were changed from to Recombination rate QTL 1, MIM#612042
Mendeliome v0.10186 RNF212 Zornitza Stark Publications for gene: RNF212 were set to
Mendeliome v0.10185 RNF212 Zornitza Stark Classified gene: RNF212 as Red List (low evidence)
Mendeliome v0.10185 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
Mendeliome v0.10184 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Mendeliome v0.10183 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Mendeliome v0.10182 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 CFAP65 Eleanor Williams reviewed gene: CFAP65: Rating: ; Mode of pathogenicity: None; Publications: 34231842; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10181 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Mendeliome v0.10181 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Mendeliome v0.10181 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1 MIM#251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719
Mendeliome v0.10180 CANT1 Zornitza Stark Publications for gene: CANT1 were set to 19853239; 21037275; 28742282
Mendeliome v0.10179 CANT1 Zornitza Stark Publications for gene: CANT1 were set to
Mendeliome v0.10178 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10177 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1 MIM#251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10177 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Mendeliome v0.10177 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Mendeliome v0.10176 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Mendeliome v0.10175 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 RNF212 Paul De Fazio reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 18239089, 29277047; Phenotypes: Recombination rate QTL 1 MIM#612042; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10174 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10174 AGRP Zornitza Stark Phenotypes for gene: AGRP were changed from to {Leanness, inherited} 601665; {Obesity, late-onset} 601665
Mendeliome v0.10173 AGRP Zornitza Stark Classified gene: AGRP as Red List (low evidence)
Mendeliome v0.10173 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10172 AGRP Zornitza Stark reviewed gene: AGRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leanness, inherited} 601665, {Obesity, late-onset} 601665; Mode of inheritance: None
Mendeliome v0.10172 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mendeliome v0.10172 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mendeliome v0.10171 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mendeliome v0.10170 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10169 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10169 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Mendeliome v0.10169 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Mendeliome v0.10168 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Mendeliome v0.10167 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Mendeliome v0.10166 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175
Mendeliome v0.10165 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Mendeliome v0.10164 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10163 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Mendeliome v0.10162 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10162 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Mendeliome v0.10162 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Mendeliome v0.10161 EBP Zornitza Stark Publications for gene: EBP were set to
Mendeliome v0.10160 EBP Zornitza Stark Mode of inheritance for gene: EBP 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)
Mendeliome v0.10159 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 10391218, 10391219
Mendeliome v0.10159 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10159 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Mendeliome v0.10159 DYM Zornitza Stark Phenotypes for gene: DYM were changed from to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800
Mendeliome v0.10158 DYM Zornitza Stark Publications for gene: DYM were set to
Mendeliome v0.10157 DYM Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10156 DYM Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12491225, 12554689, 16470731, 19005420; Phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10156 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Mendeliome v0.10156 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219
Mendeliome v0.10155 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Mendeliome v0.10154 DOCK6 Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10153 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10153 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724
Mendeliome v0.10152 DNMT3A Zornitza Stark edited their review of gene: DNMT3A: Changed phenotypes: Tatton-Brown-Rahman syndrome, MIM# 615879, Heyn-Sproul-Jackson syndrome, MIM# 618724
Mendeliome v0.10152 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Mendeliome v0.10152 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, MIM# 618300
Mendeliome v0.10151 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to
Mendeliome v0.10150 DNAH9 Zornitza Stark Mode of inheritance for gene: DNAH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10149 DNAH9 Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: Ciliary dyskinesia, primary, 40, MIM# 618300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10149 NEK10 Zornitza Stark Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781
Mendeliome v0.10148 NEK10 Zornitza Stark edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781
Mendeliome v0.10148 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Mendeliome v0.10148 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535
Mendeliome v0.10147 NFIX Zornitza Stark Publications for gene: NFIX were set to
Mendeliome v0.10146 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10145 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753), Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10145 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Mendeliome v0.10145 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060
Mendeliome v0.10144 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Mendeliome v0.10143 GFM1 Zornitza Stark Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10142 GJA3 Zornitza Stark Gene: gja3 has been classified as Green List (High Evidence).
Mendeliome v0.10142 GJA3 Zornitza Stark Phenotypes for gene: GJA3 were changed from to Cataract 14, multiple types MIM#601885
Mendeliome v0.10141 GJA3 Zornitza Stark Publications for gene: GJA3 were set to
Mendeliome v0.10140 GJA3 Zornitza Stark Mode of inheritance for gene: GJA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10139 NECTIN4 Zornitza Stark Marked gene: NECTIN4 as ready
Mendeliome v0.10139 NECTIN4 Zornitza Stark Gene: nectin4 has been classified as Green List (High Evidence).
Mendeliome v0.10139 NECTIN4 Zornitza Stark Phenotypes for gene: NECTIN4 were changed from to Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573)
Mendeliome v0.10138 NECTIN4 Zornitza Stark Publications for gene: NECTIN4 were set to
Mendeliome v0.10137 NECTIN4 Zornitza Stark Mode of inheritance for gene: NECTIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10136 NECTIN4 Zornitza Stark reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577405, 20691405, 25529316; Phenotypes: Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10136 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10136 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Mendeliome v0.10136 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480
Mendeliome v0.10135 GJC2 Zornitza Stark Publications for gene: GJC2 were set to
Mendeliome v0.10134 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10133 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Mendeliome v0.10133 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from to Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD
Mendeliome v0.10132 EPHB4 Zornitza Stark Publications for gene: EPHB4 were set to
Mendeliome v0.10131 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10130 EPHB4 Zornitza Stark reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10130 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Mendeliome v0.10130 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10130 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from to Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812
Mendeliome v0.10129 WNT4 Zornitza Stark Publications for gene: WNT4 were set to
Mendeliome v0.10128 WNT4 Zornitza Stark Mode of inheritance for gene: WNT4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10127 WNT4 Zornitza Stark Classified gene: WNT4 as Amber List (moderate evidence)
Mendeliome v0.10127 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10126 WNT4 Zornitza Stark reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810, 18179883, 15317892, 18182450; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330), SERKAL syndrome, OMIM #611812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10126 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Mendeliome v0.10126 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211
Mendeliome v0.10125 WWOX Zornitza Stark Publications for gene: WWOX were set to
Mendeliome v0.10124 WWOX Zornitza Stark Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10123 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 24456803, 25411445, 32051108, 32037574, 24369382, 34831305, 33916893; Phenotypes: Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322, Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10123 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Mendeliome v0.10123 ZNF750 Zornitza Stark Phenotypes for gene: ZNF750 were changed from to Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227
Mendeliome v0.10122 ZNF750 Zornitza Stark Publications for gene: ZNF750 were set to
Mendeliome v0.10121 ZNF750 Zornitza Stark Mode of inheritance for gene: ZNF750 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10120 ZNF750 Zornitza Stark Classified gene: ZNF750 as Red List (low evidence)
Mendeliome v0.10120 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Mendeliome v0.10119 ZNF750 Zornitza Stark reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: 22185198, 16751772, 22936986; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10119 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Mendeliome v0.10119 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Mendeliome v0.10118 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Mendeliome v0.10117 GLB1 Zornitza Stark Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10116 LACC1 Bryony Thompson changed review comment from: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported.
Sources: Literature; to: At least 43 cases with biallelic variants (7 different variants) from 17 mainly consanguineous families reported.
Sources: Literature
Mendeliome v0.10116 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Mendeliome v0.10116 LACC1 Bryony Thompson Classified gene: LACC1 as Green List (high evidence)
Mendeliome v0.10116 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Mendeliome v0.10115 LACC1 Bryony Thompson gene: LACC1 was added
gene: LACC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577
Phenotypes for gene: LACC1 were set to Juvenile arthritis MIM#618795
Review for gene: LACC1 was set to GREEN
Added comment: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported.
Sources: Literature
Mendeliome v0.10114 TRIM27 Zornitza Stark Marked gene: TRIM27 as ready
Mendeliome v0.10114 TRIM27 Zornitza Stark Gene: trim27 has been classified as Red List (Low Evidence).
Mendeliome v0.10114 TRIM27 Zornitza Stark Phenotypes for gene: TRIM27 were changed from to parkinson's disease
Mendeliome v0.10113 TRIM27 Zornitza Stark Classified gene: TRIM27 as Red List (low evidence)
Mendeliome v0.10113 TRIM27 Zornitza Stark Gene: trim27 has been classified as Red List (Low Evidence).
Mendeliome v0.10112 CR1 Zornitza Stark Gene: cr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10112 CR1 Zornitza Stark Classified gene: CR1 as Red List (low evidence)
Mendeliome v0.10112 CR1 Zornitza Stark Gene: cr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10111 ASTL Zornitza Stark Marked gene: ASTL as ready
Mendeliome v0.10111 ASTL Zornitza Stark Gene: astl has been classified as Red List (Low Evidence).
Mendeliome v0.10111 ASTL Zornitza Stark gene: ASTL was added
gene: ASTL was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ASTL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTL were set to 34704130
Phenotypes for gene: ASTL were set to Oocyte maturation defect 11, MIM# 619643
Review for gene: ASTL was set to RED
Added comment: Oocyte maturation defect-11 (OOMD11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Single family with two affected siblings reported.
Sources: Expert list
Mendeliome v0.10110 TERB2 Zornitza Stark Marked gene: TERB2 as ready
Mendeliome v0.10110 TERB2 Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10110 TERB2 Zornitza Stark Classified gene: TERB2 as Amber List (moderate evidence)
Mendeliome v0.10110 TERB2 Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10109 TERB2 Zornitza Stark gene: TERB2 was added
gene: TERB2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TERB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERB2 were set to 33211200
Phenotypes for gene: TERB2 were set to Spermatogenic failure 59, MIM# 619645
Review for gene: TERB2 was set to AMBER
Added comment: One family with three affected siblings; mouse model.
Sources: Literature
Mendeliome v0.10108 SPIDR Bryony Thompson Classified gene: SPIDR as Amber List (moderate evidence)
Mendeliome v0.10108 SPIDR Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10107 SPIDR Bryony Thompson gene: SPIDR was added
gene: SPIDR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPIDR were set to 34794894; 34697795; 27967308
Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency
Review for gene: SPIDR was set to AMBER
Added comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination.
Sources: Literature
Mendeliome v0.10106 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Mendeliome v0.10105 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
Mendeliome v0.10105 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10105 REC8 Bryony Thompson Classified gene: REC8 as Amber List (moderate evidence)
Mendeliome v0.10105 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Phenotypes for gene: ATP6V1B2 were changed from to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy
Mendeliome v0.10103 REC8 Bryony Thompson gene: REC8 was added
gene: REC8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Phenotypes for gene: REC8 were set to Primary ovarian insufficiency
Review for gene: REC8 was set to AMBER
Added comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants
PMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.
PMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance.
Sources: Literature
Mendeliome v0.10103 ATP6V1B2 Zornitza Stark Publications for gene: ATP6V1B2 were set to
Mendeliome v0.10102 ATP6V1B2 Zornitza Stark Mode of inheritance for gene: ATP6V1B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 ATP6V1B2 Zornitza Stark edited their review of gene: ATP6V1B2: Changed phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480, Epileptic encephalopathy
Mendeliome v0.10101 ATP6V1B2 Zornitza Stark reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750, 32873933; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 GDF6 Ain Roesley edited their review of gene: GDF6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 GDF6 Ain Roesley reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30733656, 29130651, 26643732, 19129173, 23307924, 32737436; Phenotypes: Klippel-Feil syndrome 1, autosomal dominantMIM#118100, Leber congenital amaurosis 17 (MIM#615360), Microphthalmia, isolated 4 (MIM#613094), Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10101 MSH5 Bryony Thompson Classified gene: MSH5 as Green List (high evidence)
Mendeliome v0.10101 MSH5 Bryony Thompson Gene: msh5 has been classified as Green List (High Evidence).
Mendeliome v0.10100 MSH5 Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Mendeliome v0.10100 MSH5 Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Mendeliome v0.10100 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Mendeliome v0.10100 MSH5 Bryony Thompson edited their review of gene: MSH5: Changed rating: GREEN; Changed publications: 28175301, 9916805, 24970489, 34755185; Changed phenotypes: Azoospermia, Premature ovarian failure 13 MIM#617442
Mendeliome v0.10100 MSH4 Bryony Thompson Classified gene: MSH4 as Green List (high evidence)
Mendeliome v0.10100 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Mendeliome v0.10099 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Mendeliome v0.10099 ASXL2 Zornitza Stark Phenotypes for gene: ASXL2 were changed from to Shashi-Pena syndrome, MIM# 617190
Mendeliome v0.10098 ASXL2 Zornitza Stark Publications for gene: ASXL2 were set to
Mendeliome v0.10097 ASXL2 Zornitza Stark Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10096 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10096 MSH4 Bryony Thompson gene: MSH4 was added
gene: MSH4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284
Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia
Review for gene: MSH4 was set to GREEN
Added comment: PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.
PMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)
PMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant
PMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)
PMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant
PMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries.
Sources: Literature
Mendeliome v0.10095 ASPH Zornitza Stark Gene: asph has been classified as Green List (High Evidence).
Mendeliome v0.10095 ASPH Zornitza Stark Phenotypes for gene: ASPH were changed from to Traboulsi syndrome , MIM#601552
Mendeliome v0.10094 ASPH Zornitza Stark Publications for gene: ASPH were set to
Mendeliome v0.10093 ASPH Zornitza Stark Mode of inheritance for gene: ASPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10092 ASPH Zornitza Stark reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Phenotypes for gene: ARHGAP29 were changed from to Cleft palate; cleft lip with or without cleft palate
Mendeliome v0.10091 ARHGAP29 Zornitza Stark Publications for gene: ARHGAP29 were set to
Mendeliome v0.10090 ARHGAP29 Zornitza Stark Mode of inheritance for gene: ARHGAP29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10089 ARHGAP29 Zornitza Stark reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip with or without cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10089 GFM1 Ain Roesley reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10089 GJA3 Ain Roesley reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10205266, 15286166, 15448617, 21681855, 22312188, 22550389, 22876138; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10089 GJC2 Ain Roesley reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10089 MEIOB Bryony Thompson Classified gene: MEIOB as Green List (high evidence)
Mendeliome v0.10089 MEIOB Bryony Thompson Gene: meiob has been classified as Green List (High Evidence).
Mendeliome v0.10088 MEIOB Bryony Thompson gene: MEIOB was added
gene: MEIOB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOB were set to 34794894; 24068956; 31000419; 28206990
Phenotypes for gene: MEIOB were set to Spermatogenic failure 22 MIM#617706; primary ovarian insufficiency
Review for gene: MEIOB was set to GREEN
Added comment: At least 6 cases in 3 families, plus a mouse model for spermatogenic failure. A single family and a mouse model for POI.
PMID: 28206990 - 4 infertile brothers with a homozygous missense variant.
PMID: 32741963 - 2 unrelated males with complete spermatocytic arrest and homozygous truncating variants.
PMID: 24068956 - infertile male and female null mouse model.
PMID: 31000419 - Single family with a homozygous splicing variant in 2 sisters with POI.
Sources: Literature
Mendeliome v0.10087 GLB1 Ain Roesley reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10087 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10087 HELQ Bryony Thompson Deleted their comment
Mendeliome v0.10087 HELQ Bryony Thompson commented on gene: HELQ: A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition.
Mendeliome v0.10087 HELQ Bryony Thompson Classified gene: HELQ as Amber List (moderate evidence)
Mendeliome v0.10087 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10086 HELQ Bryony Thompson gene: HELQ was added
gene: HELQ was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELQ were set to 34794894; 24005329; 33095795
Phenotypes for gene: HELQ were set to Primary ovarian insufficiency
Review for gene: HELQ was set to AMBER
Added comment: Sources: Literature
Mendeliome v0.10085 TRIM27 Ain Roesley reviewed gene: TRIM27: Rating: RED; Mode of pathogenicity: None; Publications: 34419804; Phenotypes: parkinson's disease; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10085 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Mendeliome v0.10085 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Developmental and epileptic encephalopathy 48, MIM# 617276
Mendeliome v0.10084 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Mendeliome v0.10083 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10082 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Developmental and epileptic encephalopathy 48, MIM# 617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10082 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Mendeliome v0.10082 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Mendeliome v0.10082 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Mendeliome v0.10081 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to
Mendeliome v0.10080 ANTXR2 Zornitza Stark Mode of inheritance for gene: ANTXR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10079 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10079 CR1 Ain Roesley reviewed gene: CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10079 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Mendeliome v0.10079 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Mendeliome v0.10078 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Mendeliome v0.10077 SLC29A3 Zornitza Stark Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10076 SLC29A3 Zornitza Stark reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10076 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX to Orofaciodigital syndrome type IX; syndromic hypopituitarism
Mendeliome v0.10075 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556
Mendeliome v0.10074 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence)
Mendeliome v0.10074 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Mendeliome v0.10073 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Changed rating: GREEN
Mendeliome v0.10073 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: Further report of ciliopathy phenotype in PMID 31130284.; Changed publications: 24285566, 32573025, 32060556, 31130284
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Classified gene: BLOC1S1 as Green List (high evidence)
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Mendeliome v0.10072 BLOC1S1 Zornitza Stark gene: BLOC1S1 was added
gene: BLOC1S1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S1 were set to 33875846
Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy
Review for gene: BLOC1S1 was set to GREEN
Added comment: 4 individuals reported.
Sources: Literature
Mendeliome v0.10071 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Mendeliome v0.10071 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541; Osteopetrosis, autosomal recessive 4, MIM# 611490
Mendeliome v0.10070 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Mendeliome v0.10069 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10068 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10068 TMEM260 Zornitza Stark changed review comment from: Seven unrelated families reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Mendeliome v0.10068 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Mendeliome v0.10068 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Mendeliome v0.10067 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN
Mendeliome v0.10067 TMEM260 Zornitza Stark changed review comment from: Two unrelated families reported.; to: Seven unrelated families reported.
Mendeliome v0.10067 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed publications: 28318500, 34612517
Mendeliome v0.10067 SNIP1 Zornitza Stark Classified gene: SNIP1 as Amber List (moderate evidence)
Mendeliome v0.10067 SNIP1 Zornitza Stark Gene: snip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10066 SNIP1 Zornitza Stark edited their review of gene: SNIP1: Added comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.; Changed rating: AMBER; Changed publications: 22279524, 34570759
Mendeliome v0.10066 TAF4 Zornitza Stark Marked gene: TAF4 as ready
Mendeliome v0.10066 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10066 TAF4 Zornitza Stark Classified gene: TAF4 as Amber List (moderate evidence)
Mendeliome v0.10066 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10065 TAF4 Zornitza Stark gene: TAF4 was added
gene: TAF4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 33875846; 28191890
Phenotypes for gene: TAF4 were set to Neurodevelopmental disorder
Review for gene: TAF4 was set to AMBER
Added comment: Three individuals reported with de novo LoF variants as part of large cohorts, limited phenotypic information available.
Sources: Literature
Mendeliome v0.10064 RAB11A Zornitza Stark Publications for gene: RAB11A were set to 29100083
Mendeliome v0.10063 RAB11A Zornitza Stark Classified gene: RAB11A as Green List (high evidence)
Mendeliome v0.10063 RAB11A Zornitza Stark Gene: rab11a has been classified as Green List (High Evidence).
Mendeliome v0.10062 RAB11A Zornitza Stark edited their review of gene: RAB11A: Added comment: Two additional cases reported.; Changed rating: GREEN; Changed publications: 29100083, 33875846
Mendeliome v0.10062 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Mendeliome v0.10062 PLK1 Zornitza Stark Classified gene: PLK1 as Green List (high evidence)
Mendeliome v0.10062 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Mendeliome v0.10061 PLK1 Zornitza Stark gene: PLK1 was added
gene: PLK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK1 were set to 33875846
Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability
Review for gene: PLK1 was set to GREEN
Added comment: More than 5 individuals reported.
Sources: Literature
Mendeliome v0.10060 RAP1GDS1 Zornitza Stark Publications for gene: RAP1GDS1 were set to 32431071
Mendeliome v0.10059 RAP1GDS1 Zornitza Stark Classified gene: RAP1GDS1 as Green List (high evidence)
Mendeliome v0.10059 RAP1GDS1 Zornitza Stark Gene: rap1gds1 has been classified as Green List (High Evidence).
Mendeliome v0.10058 RAP1GDS1 Zornitza Stark edited their review of gene: RAP1GDS1: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 32431071, 33875846
Mendeliome v0.10058 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Mendeliome v0.10058 PRRX1 Zornitza Stark Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM# 202650
Mendeliome v0.10057 PRRX1 Zornitza Stark Publications for gene: PRRX1 were set to
Mendeliome v0.10056 PRRX1 Zornitza Stark Mode of inheritance for gene: PRRX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10055 PRRX1 Zornitza Stark reviewed gene: PRRX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21294718, 22211708, 22674740, 23444262; Phenotypes: Agnathia-otocephaly complex, MIM# 202650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10055 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10055 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Mendeliome v0.10055 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10054 MMP15 Zornitza Stark gene: MMP15 was added
gene: MMP15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature
Mendeliome v0.10053 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Mendeliome v0.10053 RPA1 Zornitza Stark Classified gene: RPA1 as Green List (high evidence)
Mendeliome v0.10053 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Mendeliome v0.10052 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RPA1 was set to GREEN
Added comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: Literature
Mendeliome v0.10051 AXIN2 Zornitza Stark Gene: axin2 has been classified as Green List (High Evidence).
Mendeliome v0.10051 AXIN2 Zornitza Stark Phenotypes for gene: AXIN2 were changed from to Oligodontia-colorectal cancer syndrome, MIM# 608615
Mendeliome v0.10050 AXIN2 Zornitza Stark Mode of inheritance for gene: AXIN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10049 AXIN2 Zornitza Stark reviewed gene: AXIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042511, 21626677, 21416598, 34637023; Phenotypes: Oligodontia-colorectal cancer syndrome, MIM# 608615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10049 ADK Zornitza Stark Publications for gene: ADK were set to 21963049; 17120046
Mendeliome v0.10048 ADK Zornitza Stark commented on gene: ADK: Three additional families reported, liver disease prominent.
Mendeliome v0.10048 ADK Zornitza Stark edited their review of gene: ADK: Changed publications: 21963049, 17120046, 33309011
Mendeliome v0.10048 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Mendeliome v0.10048 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Mendeliome v0.10048 ATP9A Zornitza Stark Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Mendeliome v0.10047 ATP9A Zornitza Stark Classified gene: ATP9A as Green List (high evidence)
Mendeliome v0.10047 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Mendeliome v0.10046 ATP9A Zornitza Stark reviewed gene: ATP9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34379057, 34764295; Phenotypes: Neurodevelopmental delay, Postnatal microcephaly, Failure to thrive, Gastrointestinal symptoms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10046 ECM1 Zornitza Stark Gene: ecm1 has been classified as Green List (High Evidence).
Mendeliome v0.10046 ECM1 Zornitza Stark Phenotypes for gene: ECM1 were changed from to Urbach-Wiethe disease #247100
Mendeliome v0.10045 ECM1 Zornitza Stark Publications for gene: ECM1 were set to
Mendeliome v0.10044 ECM1 Zornitza Stark changed review comment from: PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant.

PMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants.

PMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.; to: Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane

PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant.

PMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants.

PMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.
Mendeliome v0.10044 ECM1 Zornitza Stark Mode of inheritance for gene: ECM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10043 ECM1 Zornitza Stark reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11929856, 28720532, 33159951; Phenotypes: Urbach-Wiethe disease #247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10043 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066 to Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset
Mendeliome v0.10042 SMPX Zornitza Stark Publications for gene: SMPX were set to 21549342; 21549336; 21893181; 22911656; 28542515
Mendeliome v0.10041 SMPX Zornitza Stark edited their review of gene: SMPX: Added comment: PMID 33974137: Four different missense variants were identified in ten patients from nine families in five different countries. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. Clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a characteristic pattern of muscle involvement and fatty degeneration. Histopathological and electron microscopic analysis of patient muscle biopsies revealed myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. In silico predictions and subsequent cell culture studies showed that the missense mutations increase aggregation propensity of the SMPX protein. In cell culture studies, overexpressed SMPX localized to stress granules and slowed down their clearance.; Changed publications: 21549342, 21549336, 21893181, 22911656, 28542515, 33974137; Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Distal myopathy, adult-onset
Mendeliome v0.10041 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 to Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Erythrocytosis
Mendeliome v0.10040 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 23695678; 26333996
Mendeliome v0.10039 PIEZO1 Zornitza Stark reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33181827; Phenotypes: Erythrocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10039 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Green List (High Evidence).
Mendeliome v0.10039 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Mendeliome v0.10038 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Mendeliome v0.10037 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 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)
Mendeliome v0.10036 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Mendeliome v0.10036 FGF5 Zornitza Stark Classified gene: FGF5 as Green List (high evidence)
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Mendeliome v0.10035 FGF5 Zornitza Stark gene: FGF5 was added
gene: FGF5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis
Review for gene: FGF5 was set to GREEN
Added comment: Two families reported, aware of additional unpublished case.
Sources: Literature
Mendeliome v0.10034 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37, MIM# 615493 to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant
Mendeliome v0.10033 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Mendeliome v0.10032 ANK3 Zornitza Stark Classified gene: ANK3 as Green List (high evidence)
Mendeliome v0.10032 ANK3 Zornitza Stark Gene: ank3 has been classified as Green List (High Evidence).
Mendeliome v0.10031 ANK3 Zornitza Stark edited their review of gene: ANK3: Added comment: PMID 34218362: four unrelated novel, and two previously published patients with heterozygos ANK3 LoF variants are reported/summarized.; Changed rating: GREEN; Changed publications: 23390136, 28687526, 34218362; Changed phenotypes: Mental retardation, autosomal recessive, 37 615493, Intellectual disability, autosomal dominant
Mendeliome v0.10031 HIBADH Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence).
Mendeliome v0.10031 HIBADH Zornitza Stark gene: HIBADH was added
gene: HIBADH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBADH were set to 34176136
Phenotypes for gene: HIBADH were set to Organic aciduria
Review for gene: HIBADH was set to RED
Added comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies
Sources: Literature
Mendeliome v0.10030 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy; Adult-onset leukoencephalopathy
Mendeliome v0.10029 LAMB1 Zornitza Stark Publications for gene: LAMB1 were set to 23472759; 25925986; 29888467; 25925986; 32548278
Mendeliome v0.10028 LAMB1 Zornitza Stark Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10027 LAMB1 Zornitza Stark edited their review of gene: LAMB1: Added comment: Association between mono-allelic variants and adult-onset leukoencephalopathy:

LAMB1 variants found in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All have white matter hypersignals. ‘These variants are associated with a novel phenotype characterized by the association of a hippocampal type episodic memory defect and a diffuse vascular leukoencephalopathy.’; Changed publications: 23472759, 25925986, 29888467, 25925986, 32548278, 34606115; Changed phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy, Adult-onset leukoencephalopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed publications: 34800363
Mendeliome v0.10027 OGDHL Alison Yeung Gene: ogdhl has been classified as Green List (High Evidence).
Mendeliome v0.10027 OGDHL Alison Yeung Classified gene: OGDHL as Green List (high evidence)
Mendeliome v0.10027 OGDHL Alison Yeung Gene: ogdhl has been classified as Green List (High Evidence).
Mendeliome v0.10026 ATP5A1 Naomi Baker reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10026 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mendeliome v0.10026 SLIRP Zornitza Stark Classified gene: SLIRP as Red List (low evidence)
Mendeliome v0.10026 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mendeliome v0.10025 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10025 FOXR1 Zornitza Stark Classified gene: FOXR1 as Amber List (moderate evidence)
Mendeliome v0.10025 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10024 OGDHL Melanie Marty gene: OGDHL was added
gene: OGDHL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to PMID: 34800363
Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Review for gene: OGDHL was set to GREEN
Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Mendeliome v0.10024 TAB2 Zornitza Stark Tag SV/CNV tag was added to gene: TAB2.
Mendeliome v0.10024 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Mendeliome v0.10024 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Mendeliome v0.10024 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Mendeliome v0.10023 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Mendeliome v0.10022 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10021 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Mendeliome v0.10021 FAAH2 Zornitza Stark Publications for gene: FAAH2 were set to PMID: 34645488
Mendeliome v0.10020 FAAH2 Zornitza Stark Classified gene: FAAH2 as Red List (low evidence)
Mendeliome v0.10020 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Mendeliome v0.10019 FOXR1 Paul De Fazio changed review comment from: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature; to: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10019 SLIRP Belinda Chong gene: SLIRP was added
gene: SLIRP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency
Review for gene: SLIRP was set to RED
Added comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: Literature
Mendeliome v0.10019 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10019 OGDH Zornitza Stark Classified gene: OGDH as Amber List (moderate evidence)
Mendeliome v0.10019 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10018 OGDH Zornitza Stark gene: OGDH was added
gene: OGDH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 32383294
Phenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate
Review for gene: OGDH was set to AMBER
Added comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done.
Sources: Literature
Mendeliome v0.10017 FAAH2 Ain Roesley edited their review of gene: FAAH2: Changed publications: 34645488, 25885783
Mendeliome v0.10017 FOXR1 Paul De Fazio gene: FOXR1 was added
gene: FOXR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXR1 were set to 34723967
Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Review for gene: FOXR1 was set to AMBER
gene: FOXR1 was marked as current diagnostic
Added comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10017 TAB2 Chern Lim reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10017 FAAH2 Ain Roesley changed review comment from: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomoad
Sources: Literature; to: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomAD
Sources: Literature
Mendeliome v0.10017 FAAH2 Ain Roesley gene: FAAH2 was added
gene: FAAH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FAAH2 were set to PMID: 34645488
Penetrance for gene: FAAH2 were set to unknown
Review for gene: FAAH2 was set to RED
gene: FAAH2 was marked as current diagnostic
Added comment: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomoad
Sources: Literature
Mendeliome v0.10017 NT5E Zornitza Stark Marked gene: NT5E as ready
Mendeliome v0.10017 NT5E Zornitza Stark Gene: nt5e has been classified as Green List (High Evidence).
Mendeliome v0.10017 NT5E Zornitza Stark Phenotypes for gene: NT5E were changed from to Calcification of joints and arteries, MIM# 211800
Mendeliome v0.10016 NT5E Zornitza Stark Publications for gene: NT5E were set to
Mendeliome v0.10015 NT5E Zornitza Stark Mode of inheritance for gene: NT5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10014 NT5E Zornitza Stark reviewed gene: NT5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21288095; Phenotypes: Calcification of joints and arteries, MIM# 211800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10014 ARPC4 Bryony Thompson Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v0.10014 ARPC4 Bryony Thompson Classified gene: ARPC4 as Green List (high evidence)
Mendeliome v0.10014 ARPC4 Bryony Thompson Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v0.10013 ARPC4 Bryony Thompson gene: ARPC4 was added
gene: ARPC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Phenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment
Review for gene: ARPC4 was set to GREEN
Added comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). The variant was associated with a decreased amount of F-actin in cells from two affected individuals.
Sources: Literature
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Mendeliome v0.10011 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Mendeliome v0.10010 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10009 TNFRSF11A Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10009 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Mendeliome v0.10009 RNF125 Zornitza Stark Phenotypes for gene: RNF125 were changed from to Tenorio syndrome - MIM# 616260
Mendeliome v0.10008 RNF125 Zornitza Stark Publications for gene: RNF125 were set to
Mendeliome v0.10007 RNF125 Zornitza Stark Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10006 RNF125 Zornitza Stark reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome - MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10006 ERMAP Zornitza Stark Gene: ermap has been classified as Red List (Low Evidence).
Mendeliome v0.10006 ERMAP Zornitza Stark Phenotypes for gene: ERMAP were changed from to Blood types
Mendeliome v0.10005 ERMAP Zornitza Stark Classified gene: ERMAP as Red List (low evidence)
Mendeliome v0.10005 ERMAP Zornitza Stark Gene: ermap has been classified as Red List (Low Evidence).
Mendeliome v0.10004 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10004 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Mendeliome v0.10003 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Mendeliome v0.10002 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10001 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Mendeliome v0.10001 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10000 UNC93B1 Zornitza Stark reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10000 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Red List (low evidence)
Mendeliome v0.10000 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Red List (Low Evidence).
Mendeliome v0.9999 PLS3 Zornitza Stark Gene: pls3 has been classified as Green List (High Evidence).
Mendeliome v0.9999 PLS3 Zornitza Stark Phenotypes for gene: PLS3 were changed from to Bone mineral density QTL18, osteoporosis - MIM#300910
Mendeliome v0.9998 PLS3 Zornitza Stark Publications for gene: PLS3 were set to
Mendeliome v0.9997 PLS3 Zornitza Stark Mode of inheritance for gene: PLS3 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)
Mendeliome v0.9996 PLS3 Zornitza Stark reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32655496, 25209159, 29736964, 29884797, 28777485, 24088043; Phenotypes: Bone mineral density QTL18, osteoporosis - MIM#300910; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9996 MMP9 Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence).
Mendeliome v0.9996 MMP9 Zornitza Stark Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2, MIM# 613073
Mendeliome v0.9995 MMP9 Zornitza Stark Publications for gene: MMP9 were set to
Mendeliome v0.9994 MMP9 Zornitza Stark Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9993 MMP9 Zornitza Stark reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615667, 28342220, 34407464; Phenotypes: Metaphyseal anadysplasia 2, MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9993 ERMAP Lucy Spencer reviewed gene: ERMAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood types; Mode of inheritance: None
Mendeliome v0.9993 UNC93B1 Lucy Spencer reviewed gene: UNC93B1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16973841; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9993 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Mendeliome v0.9993 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Mendeliome v0.9992 EDN3 Zornitza Stark Publications for gene: EDN3 were set to
Mendeliome v0.9991 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9990 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 9359047, 10231870, 30171849, 27370713; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Waardenburg syndrome, type 4B, MIM# 613265, {Hirschsprung disease, susceptibility to, 4}, MIM# 613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9990 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Mendeliome v0.9990 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Mendeliome v0.9989 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Mendeliome v0.9988 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9987 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9987 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to 29967133; 29967133; 30157302; 23665959
Mendeliome v0.9986 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease
Mendeliome v0.9985 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to 29967133
Mendeliome v0.9984 CARD10 Zornitza Stark Gene: card10 has been classified as Red List (Low Evidence).
Mendeliome v0.9984 CARD10 Zornitza Stark gene: CARD10 was added
gene: CARD10 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARD10 were set to 32238915
Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632
Review for gene: CARD10 was set to RED
Added comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: Expert list
Mendeliome v0.9983 TBX21 Zornitza Stark Marked gene: TBX21 as ready
Mendeliome v0.9983 TBX21 Zornitza Stark Gene: tbx21 has been classified as Red List (Low Evidence).
Mendeliome v0.9983 TBX21 Zornitza Stark Phenotypes for gene: TBX21 were changed from to Immunodeficiency 88, MIM# 619630; Asthma and nasal polyps, MIM# 208550
Mendeliome v0.9982 TBX21 Zornitza Stark Publications for gene: TBX21 were set to
Mendeliome v0.9981 TBX21 Zornitza Stark Mode of inheritance for gene: TBX21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9980 TBX21 Zornitza Stark Classified gene: TBX21 as Red List (low evidence)
Mendeliome v0.9980 TBX21 Zornitza Stark Gene: tbx21 has been classified as Red List (Low Evidence).
Mendeliome v0.9979 TBX21 Zornitza Stark reviewed gene: TBX21: Rating: RED; Mode of pathogenicity: None; Publications: 33296702, 9393345, 15496426, 15806396; Phenotypes: Immunodeficiency 88, MIM# 619630, Asthma and nasal polyps, MIM# 208550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9979 SMAD2 Melanie Marty changed review comment from: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.; to: 10 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.
Mendeliome v0.9979 SMAD2 Melanie Marty Deleted their comment
Mendeliome v0.9979 SMAD2 Melanie Marty commented on gene: SMAD2: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype
Mendeliome v0.9979 SMAD2 Melanie Marty edited their review of gene: SMAD2: Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype; Changed publications: 29967133, 30157302, 23665959; Changed phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease, congenital heart disease
Mendeliome v0.9979 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Mendeliome v0.9979 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols
Mendeliome v0.9978 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Mendeliome v0.9977 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9976 DHCR24 Zornitza Stark reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9976 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Mendeliome v0.9976 EMD Zornitza Stark Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Mendeliome v0.9975 EMD Zornitza Stark Publications for gene: EMD were set to
Mendeliome v0.9974 EMD Zornitza Stark Mode of inheritance for gene: EMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9973 MTPAP Zornitza Stark Tag founder tag was added to gene: MTPAP.
Mendeliome v0.9973 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Mendeliome v0.9973 MTPAP Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence).
Mendeliome v0.9973 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy
Mendeliome v0.9972 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Mendeliome v0.9971 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9970 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672, Lethal encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9970 EMD Belinda Chong reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.9970 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Mendeliome v0.9970 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Mendeliome v0.9970 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23 MIM#616198
Mendeliome v0.9969 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Mendeliome v0.9968 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9967 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9967 GRIP1 Zornitza Stark Gene: grip1 has been classified as Green List (High Evidence).
Mendeliome v0.9967 GRIP1 Zornitza Stark Phenotypes for gene: GRIP1 were changed from to Fraser syndrome 3 MIM#617667; CAKUT
Mendeliome v0.9966 GRIP1 Zornitza Stark Publications for gene: GRIP1 were set to
Mendeliome v0.9965 GRIP1 Zornitza Stark changed review comment from: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.; to: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.

'Mild' bi-allelic variants also postulated to cause isolated CAKUT, PMID 24700879.
Mendeliome v0.9965 GRIP1 Zornitza Stark edited their review of gene: GRIP1: Changed phenotypes: Fraser syndrome 3 MIM#617667, CAKUT
Mendeliome v0.9965 GRIP1 Zornitza Stark edited their review of gene: GRIP1: Changed publications: 24700879, 24357607, 22510445
Mendeliome v0.9965 GRIP1 Zornitza Stark Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9964 GRIP1 Zornitza Stark reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24357607, 22510445; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9964 GRHL3 Zornitza Stark Gene: grhl3 has been classified as Green List (High Evidence).
Mendeliome v0.9964 GRHL3 Zornitza Stark Phenotypes for gene: GRHL3 were changed from to Van der Woude syndrome 2 MIM#606713
Mendeliome v0.9963 GRHL3 Zornitza Stark Publications for gene: GRHL3 were set to
Mendeliome v0.9962 GRHL3 Zornitza Stark Mode of inheritance for gene: GRHL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9961 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Mendeliome v0.9961 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Mendeliome v0.9961 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931
Mendeliome v0.9960 GNPTAB Zornitza Stark Publications for gene: GNPTAB were set to
Mendeliome v0.9959 GNPTAB Zornitza Stark Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9958 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 16465621; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9958 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Mendeliome v0.9958 AMMECR1 Zornitza Stark Phenotypes for gene: AMMECR1 were changed from to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Mendeliome v0.9957 AMMECR1 Zornitza Stark Publications for gene: AMMECR1 were set to
Mendeliome v0.9956 AMMECR1 Zornitza Stark Mode of inheritance for gene: AMMECR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9955 AMMECR1 Zornitza Stark reviewed gene: AMMECR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9955 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mendeliome v0.9955 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from to Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Mendeliome v0.9954 AMACR Zornitza Stark Publications for gene: AMACR were set to
Mendeliome v0.9953 AMACR Zornitza Stark Mode of inheritance for gene: AMACR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9952 AMACR Zornitza Stark reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068, 34267495, 33047465; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950, Alpha-methylacyl-CoA racemase deficiency, MIM# 614307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9952 GNPTAB Ain Roesley reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9952 NADSYN1 Zornitza Stark Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Mendeliome v0.9951 NADSYN1 Zornitza Stark edited their review of gene: NADSYN1: Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077, Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Mendeliome v0.9951 GRHL3 Ain Roesley reviewed gene: GRHL3: Rating: ; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9951 DMC1 Bryony Thompson Gene: dmc1 has been classified as Green List (High Evidence).
Mendeliome v0.9951 DMC1 Bryony Thompson Classified gene: DMC1 as Green List (high evidence)
Mendeliome v0.9951 DMC1 Bryony Thompson Gene: dmc1 has been classified as Green List (High Evidence).
Mendeliome v0.9950 DMC1 Bryony Thompson gene: DMC1 was added
gene: DMC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953; 18166824
Phenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia
Review for gene: DMC1 was set to GREEN
Added comment: PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family. Further homozygous knockout mice study demonstrated total failure of follicle development and spermatogenesis in male mice.
PMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.
PMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease
PMID: 9660954, 9660953 - both male and female knockout mice are sterile
Sources: Literature
Mendeliome v0.9949 GRIP1 Ain Roesley reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9949 GTPBP3 Ain Roesley reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9949 CPEB1 Bryony Thompson Classified gene: CPEB1 as Amber List (moderate evidence)
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9948 CPEB1 Bryony Thompson gene: CPEB1 was added
gene: CPEB1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: CPEB1.
Mode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780
Phenotypes for gene: CPEB1 were set to Primary ovarian insufficiency
Review for gene: CPEB1 was set to AMBER
Added comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.
PMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.
PMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1
PMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.
PMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes
Sources: Literature
Mendeliome v0.9947 CD44 Zornitza Stark Gene: cd44 has been classified as Red List (Low Evidence).
Mendeliome v0.9947 CD44 Zornitza Stark Phenotypes for gene: CD44 were changed from to [Blood group, Indian system] 609027
Mendeliome v0.9946 CD44 Zornitza Stark Classified gene: CD44 as Red List (low evidence)
Mendeliome v0.9946 CD44 Zornitza Stark Gene: cd44 has been classified as Red List (Low Evidence).
Mendeliome v0.9945 CD44 Zornitza Stark reviewed gene: CD44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Indian system] 609027; Mode of inheritance: None
Mendeliome v0.9945 MAPKAPK5 Zornitza Stark Publications for gene: MAPKAPK5 were set to 3344202
Mendeliome v0.9944 MAPKAPK5 Zornitza Stark edited their review of gene: MAPKAPK5: Changed publications: 33442026
Mendeliome v0.9944 BCAM Zornitza Stark Gene: bcam has been classified as Red List (Low Evidence).
Mendeliome v0.9944 BCAM Zornitza Stark Classified gene: BCAM as Red List (low evidence)
Mendeliome v0.9944 BCAM Zornitza Stark Gene: bcam has been classified as Red List (Low Evidence).
Mendeliome v0.9943 BCAM Zornitza Stark reviewed gene: BCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9943 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Mendeliome v0.9943 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175
Mendeliome v0.9942 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Mendeliome v0.9941 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9940 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212, 20223752, 30449416; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9940 PRKG2 Zornitza Stark Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Mendeliome v0.9939 PRKG2 Zornitza Stark edited their review of gene: PRKG2: Changed phenotypes: Acromesomelic dysplasia 4, MIM# 619636, Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Mendeliome v0.9939 MSX2 Zornitza Stark Gene: msx2 has been classified as Green List (High Evidence).
Mendeliome v0.9939 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Mendeliome v0.9938 MSX2 Zornitza Stark Publications for gene: MSX2 were set to
Mendeliome v0.9937 MSX2 Zornitza Stark Mode of inheritance for gene: MSX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9936 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Mendeliome v0.9936 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Mendeliome v0.9936 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Mendeliome v0.9936 AKT2 Zornitza Stark Phenotypes for gene: AKT2 were changed from to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Diabetes mellitus, type II , MIM#125853
Mendeliome v0.9935 AKT2 Zornitza Stark Publications for gene: AKT2 were set to
Mendeliome v0.9934 AKT2 Zornitza Stark Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9933 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24285683, 21979934, 28502730, 15166380, 19164855; Phenotypes: Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416, Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9933 BNC1 Bryony Thompson Classified gene: BNC1 as Green List (high evidence)
Mendeliome v0.9933 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Mendeliome v0.9932 BNC1 Bryony Thompson gene: BNC1 was added
gene: BNC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729; 32894148; 30689869; 27301361
Phenotypes for gene: BNC1 were set to Premature ovarian failure 16 MIM#618723
Review for gene: BNC1 was set to GREEN
Added comment: PMID: 30010909 - a heterozygous frameshift variant segregates with POF in 6 affected females in a Chinese family. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility.
PMID: 32962729 - 1 POF case with p.Asp575Val (which has 89 hets in gnomAD v2.1) and 1 POF case with biallelic missense variants (p.Asp568Val & p.Leu525Pro).
SCV001364363.1 - 1 POF case submitted by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano to ClinVar with NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)
PMID: 32894148, 30689869, 27301361 - large CNVs involving BNC1 reported in POF cases
PMID: 16624857 - knockdown of the gene in mouse oocytes lead to subfertility
Sources: Literature
Mendeliome v0.9931 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease
Mendeliome v0.9930 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to 16642017
Mendeliome v0.9929 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Mendeliome v0.9929 ACVR1 Zornitza Stark edited their review of gene: ACVR1: Changed publications: 16642017, 29089047; Changed phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100, Congenital heart disease
Mendeliome v0.9929 MSX2 Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9929 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Mendeliome v0.9929 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from to Fibrodysplasia ossificans progressiva, MIM# 135100
Mendeliome v0.9928 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Mendeliome v0.9927 ACVR1 Zornitza Stark Mode of inheritance for gene: ACVR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9926 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9926 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Mendeliome v0.9926 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism
Mendeliome v0.9925 MOCS2 Zornitza Stark Publications for gene: MOCS2 were set to
Mendeliome v0.9924 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9923 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Mendeliome v0.9923 ANKRD31 Bryony Thompson Classified gene: ANKRD31 as Green List (high evidence)
Mendeliome v0.9923 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Mendeliome v0.9922 ANKRD31 Bryony Thompson gene: ANKRD31 was added
gene: ANKRD31 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD31 were set to 34794894; 34257419; 31003867
Phenotypes for gene: ANKRD31 were set to Premature ovarian failure
Review for gene: ANKRD31 was set to GREEN
Added comment: Three unrelated cases with premature ovarian failure and loss of function variants (2 with c.985C>T, p.Gln329* and 1 with c.1565-2A>G). Ankrd31-deficient female mouse model has reduced oocyte reserves.
Sources: Literature
Mendeliome v0.9921 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Mendeliome v0.9921 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289
Mendeliome v0.9920 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Mendeliome v0.9919 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9918 ACO2 Zornitza Stark Deleted their comment
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Added comment: At least 10 unrelated families reported. I am not convinced this gene causes two separate disorders, more likely a spectrum. OA has been reported as an isolated finding in one family, and a feature of a more complex and severe neurological presentation in the rest.; Changed publications: 22405087, 25351951, 30689204, 32519519, 25351951
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed publications: 22405087, 25351951, 30689204, 32519519
Mendeliome v0.9918 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9918 DAZL Bryony Thompson Classified gene: DAZL as Amber List (moderate evidence)
Mendeliome v0.9918 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9917 DAZL Bryony Thompson gene: DAZL was added
gene: DAZL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969
Phenotypes for gene: DAZL were set to Primary ovarian insufficiency
Review for gene: DAZL was set to AMBER
Added comment: PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).
PMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)
PMID: 9288969 - supporting knockout mouse model
Sources: Literature
Mendeliome v0.9916 DAG1 Zornitza Stark Publications for gene: DAG1 were set to 29337005; 25503980
Mendeliome v0.9915 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21388311, 25934851, 24052401, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9915 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Mendeliome v0.9915 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Mendeliome v0.9914 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Mendeliome v0.9913 CYP17A1 Zornitza Stark Mode of inheritance for gene: CYP17A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9912 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762, 14671162, 2026124; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9912 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Mendeliome v0.9912 CYP11B1 Zornitza Stark Phenotypes for gene: CYP11B1 were changed from to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Aldosteronism, glucocorticoid-remediable, MIM# 103900
Mendeliome v0.9911 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Mendeliome v0.9910 CYP11B1 Zornitza Stark Mode of inheritance for gene: CYP11B1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9909 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8768848, 1731223, 29703198; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010, Aldosteronism, glucocorticoid-remediable, MIM# 103900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9909 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Mendeliome v0.9909 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Mendeliome v0.9908 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to
Mendeliome v0.9907 CYP11A1 Zornitza Stark Mode of inheritance for gene: CYP11A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9906 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; 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
Mendeliome v0.9906 CWC27 Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence).
Mendeliome v0.9906 CWC27 Zornitza Stark Phenotypes for gene: CWC27 were changed from to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Mendeliome v0.9905 CWC27 Zornitza Stark Publications for gene: CWC27 were set to
Mendeliome v0.9904 CWC27 Zornitza Stark Mode of inheritance for gene: CWC27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9903 CWC27 Zornitza Stark reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: 28285769, 31481716; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9903 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Mendeliome v0.9903 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from to Osteogenesis imperfecta, type IX, MIM# 259440
Mendeliome v0.9902 PPIB Zornitza Stark Publications for gene: PPIB were set to
Mendeliome v0.9901 PPIB Zornitza Stark Mode of inheritance for gene: PPIB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9900 PPIB Zornitza Stark reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9900 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9900 POLR3H Bryony Thompson Classified gene: POLR3H as Amber List (moderate evidence)
Mendeliome v0.9900 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9899 POLR3H Bryony Thompson gene: POLR3H was added
gene: POLR3H was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3H were set to 34794894; 30830215
Phenotypes for gene: POLR3H were set to Primary ovarian insufficiency
Review for gene: POLR3H was set to AMBER
Added comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation.
Sources: Literature
Mendeliome v0.9898 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9898 POLR2C Bryony Thompson Classified gene: POLR2C as Amber List (moderate evidence)
Mendeliome v0.9898 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9897 POLR2C Bryony Thompson gene: POLR2C was added
gene: POLR2C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2C were set to 34794894; 29367954
Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency
Review for gene: POLR2C was set to AMBER
Added comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.
Two missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1).
Sources: Literature
Mendeliome v0.9896 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Mendeliome v0.9896 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440
Mendeliome v0.9895 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Mendeliome v0.9894 ELAC2 Zornitza Stark Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9893 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Classified gene: KHDRBS1 as Green List (high evidence)
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Mendeliome v0.9892 KHDRBS1 Bryony Thompson gene: KHDRBS1 was added
gene: KHDRBS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015
Phenotypes for gene: KHDRBS1 were set to Premature ovarian failure
Review for gene: KHDRBS1 was set to GREEN
Added comment: 4 cases in 3 unrelated families and a supporting mouse model
PMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.
SCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)
PMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count.
PMID: 20881015 - supporting null mouse model. Female mice were subfertile.
Sources: Literature
Mendeliome v0.9891 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Mendeliome v0.9891 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Mendeliome v0.9890 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Mendeliome v0.9889 CUL4B Zornitza Stark Mode of inheritance for gene: CUL4B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9888 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9888 CTSK Zornitza Stark Marked gene: CTSK as ready
Mendeliome v0.9888 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Mendeliome v0.9888 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from to Pycnodysostosis, MIM# 265800
Mendeliome v0.9887 CTSK Zornitza Stark Mode of inheritance for gene: CTSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9886 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9886 CTCF Zornitza Stark Marked gene: CTCF as ready
Mendeliome v0.9886 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Mendeliome v0.9886 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)
Mendeliome v0.9885 CTCF Zornitza Stark Publications for gene: CTCF were set to
Mendeliome v0.9884 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9883 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Green List (High Evidence).
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Phenotypes for gene: CSNK2A1 were changed from to Okur-Chung neurodevelopmental syndrome, MIM# 617062
Mendeliome v0.9882 CSNK2A1 Zornitza Stark Publications for gene: CSNK2A1 were set to
Mendeliome v0.9881 CSNK2A1 Zornitza Stark Mode of inheritance for gene: CSNK2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9880 CSNK2A1 Zornitza Stark reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27048600, 29240241, 29383814; Phenotypes: Okur-Chung neurodevelopmental syndrome, MIM# 617062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9880 CRYGD Zornitza Stark Gene: crygd has been classified as Green List (High Evidence).
Mendeliome v0.9880 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from to Cataract 4, multiple types, MIM# 115700
Mendeliome v0.9879 CRYGD Zornitza Stark Publications for gene: CRYGD were set to
Mendeliome v0.9878 CRYGD Zornitza Stark Mode of inheritance for gene: CRYGD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9877 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9877 CRYGC Zornitza Stark Gene: crygc has been classified as Green List (High Evidence).
Mendeliome v0.9877 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from to Cataract 2, multiple types, MIM# 604307
Mendeliome v0.9876 CRYGC Zornitza Stark Publications for gene: CRYGC were set to
Mendeliome v0.9875 CRYGC Zornitza Stark Mode of inheritance for gene: CRYGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9874 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9874 CRYBB3 Zornitza Stark Gene: crybb3 has been classified as Green List (High Evidence).
Mendeliome v0.9874 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from to Cataract 22, MIM# 609741
Mendeliome v0.9873 CRYBB3 Zornitza Stark Publications for gene: CRYBB3 were set to
Mendeliome v0.9872 CRYBB3 Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9871 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9871 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Mendeliome v0.9871 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from to Cataract 3, multiple types, MIM# 601547
Mendeliome v0.9870 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Mendeliome v0.9869 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9868 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9868 CRYBB1 Zornitza Stark Gene: crybb1 has been classified as Green List (High Evidence).
Mendeliome v0.9868 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from to Cataract 17, multiple types, MIM# 611544
Mendeliome v0.9867 CRYBB1 Zornitza Stark Publications for gene: CRYBB1 were set to
Mendeliome v0.9866 CRYBB1 Zornitza Stark Mode of inheritance for gene: CRYBB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9865 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Phenotypes for gene: TNFAIP3 were changed from to Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744; Inflammatory bowel disease
Mendeliome v0.9864 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to
Mendeliome v0.9863 TNFAIP3 Zornitza Stark Mode of inheritance for gene: TNFAIP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9862 TNFAIP3 Zornitza Stark reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642243, 34030699, 33446651, 32521965, 31299923; Phenotypes: Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744, Inflammatory bowel disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9862 SFTPA1 Zornitza Stark Phenotypes for gene: SFTPA1 were changed from Idiopathic pulmonary fibrosis to Idiopathic pulmonary fibrosis; Interstitial lung disease 1, MIM# 619611
Mendeliome v0.9861 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Changed phenotypes: Idiopathic pulmonary fibrosis, Interstitial lung disease 1, MIM# 619611
Mendeliome v0.9861 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621
Mendeliome v0.9860 PI4KA Zornitza Stark edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621
Mendeliome v0.9860 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9860 UCP2 Zornitza Stark Phenotypes for gene: UCP2 were changed from to {Obesity, susceptibility to, BMIQ4} 607447; Hyperinsulinism
Mendeliome v0.9859 UCP2 Zornitza Stark Publications for gene: UCP2 were set to
Mendeliome v0.9858 UCP2 Zornitza Stark Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9857 UCP2 Zornitza Stark Classified gene: UCP2 as Amber List (moderate evidence)
Mendeliome v0.9857 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9856 UCP2 Zornitza Stark reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19065272, 11381268; Phenotypes: {Obesity, susceptibility to, BMIQ4} 607447, Hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9856 CRYBA4 Zornitza Stark Gene: cryba4 has been classified as Green List (High Evidence).
Mendeliome v0.9856 CRYBA4 Zornitza Stark Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425
Mendeliome v0.9855 CRYBA4 Zornitza Stark Publications for gene: CRYBA4 were set to
Mendeliome v0.9854 CRYBA4 Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9853 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9853 CRYBA1 Zornitza Stark Gene: cryba1 has been classified as Green List (High Evidence).
Mendeliome v0.9853 CRYBA1 Zornitza Stark Phenotypes for gene: CRYBA1 were changed from to Cataract 10, multiple types, MIM# 600881
Mendeliome v0.9852 CRYBA1 Zornitza Stark Publications for gene: CRYBA1 were set to
Mendeliome v0.9851 CRYBA1 Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9851 CRYBA1 Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9850 CRYBA1 Zornitza Stark reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9850 CRYAA Zornitza Stark Gene: cryaa has been classified as Green List (High Evidence).
Mendeliome v0.9850 CRYAA Zornitza Stark Phenotypes for gene: CRYAA were changed from to Cataract 9, multiple types, MIM# 604219
Mendeliome v0.9849 CRYAA Zornitza Stark Publications for gene: CRYAA were set to
Mendeliome v0.9848 CRYAA Zornitza Stark Mode of inheritance for gene: CRYAA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9847 CRYAA Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9847 CALU Zornitza Stark Gene: calu has been classified as Red List (Low Evidence).
Mendeliome v0.9847 CALU Zornitza Stark Classified gene: CALU as Red List (low evidence)
Mendeliome v0.9847 CALU Zornitza Stark Gene: calu has been classified as Red List (Low Evidence).
Mendeliome v0.9846 CALU Ain Roesley reviewed gene: CALU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.9846 EDNRA Zornitza Stark Gene: ednra has been classified as Green List (High Evidence).
Mendeliome v0.9846 EDNRA Zornitza Stark Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367
Mendeliome v0.9845 EDNRA Zornitza Stark Publications for gene: EDNRA were set to
Mendeliome v0.9844 EDNRA Zornitza Stark Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9843 EDNRA Zornitza Stark reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9843 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Mendeliome v0.9843 DVL3 Zornitza Stark Phenotypes for gene: DVL3 were changed from to Robinow syndrome, autosomal dominant 3 MIM#616894
Mendeliome v0.9842 DVL3 Zornitza Stark Publications for gene: DVL3 were set to
Mendeliome v0.9841 DVL3 Zornitza Stark Mode of inheritance for gene: DVL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9840 DVL3 Zornitza Stark reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924530; Phenotypes: Robinow syndrome, autosomal dominant 3 MIM#616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9840 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Mendeliome v0.9840 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300 to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Mendeliome v0.9839 IRF6 Zornitza Stark Publications for gene: IRF6 were set to 20301581
Mendeliome v0.9838 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Mendeliome v0.9838 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Mendeliome v0.9837 IRF6 Zornitza Stark Publications for gene: IRF6 were set to
Mendeliome v0.9836 IRF6 Zornitza Stark Mode of inheritance for gene: IRF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9835 MATN3 Zornitza Stark Marked gene: MATN3 as ready
Mendeliome v0.9835 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Mendeliome v0.9835 MATN3 Zornitza Stark Phenotypes for gene: MATN3 were changed from to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078)
Mendeliome v0.9834 MATN3 Zornitza Stark Publications for gene: MATN3 were set to
Mendeliome v0.9833 MATN3 Zornitza Stark Mode of inheritance for gene: MATN3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9832 INPPL1 Zornitza Stark Gene: inppl1 has been classified as Green List (High Evidence).
Mendeliome v0.9832 INPPL1 Zornitza Stark Phenotypes for gene: INPPL1 were changed from to Opsismodysplasia MIM#258480
Mendeliome v0.9831 INPPL1 Zornitza Stark Publications for gene: INPPL1 were set to
Mendeliome v0.9830 INPPL1 Zornitza Stark Mode of inheritance for gene: INPPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9829 INPPL1 Zornitza Stark reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9829 MAF Zornitza Stark Gene: maf has been classified as Green List (High Evidence).
Mendeliome v0.9829 MAF Zornitza Stark Phenotypes for gene: MAF were changed from to Ayme-Gripp syndrome (MIM#601088)
Mendeliome v0.9828 MAF Zornitza Stark Publications for gene: MAF were set to
Mendeliome v0.9827 MAF Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9826 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Mendeliome v0.9826 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from to Cenani-Lenz syndactyly syndrome (MIM#212780); Myasthenic syndrome, congenital, 17, MIM# 616304; Sclerosteosis 2, MIM# 614305; Syndactyly
Mendeliome v0.9825 LRP4 Zornitza Stark Publications for gene: LRP4 were set to
Mendeliome v0.9824 LRP4 Zornitza Stark reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24234652, 26052878, 24200689, 21471202, 32286743, 28477420, 26751728, 29524275; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304, Sclerosteosis 2, MIM# 614305, Syndactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9824 LRP4 Zornitza Stark Mode of inheritance for gene: LRP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9823 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Mendeliome v0.9823 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)
Mendeliome v0.9822 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Mendeliome v0.9821 MLC1 Zornitza Stark Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9820 MMP13 Zornitza Stark Gene: mmp13 has been classified as Green List (High Evidence).
Mendeliome v0.9820 MMP13 Zornitza Stark Phenotypes for gene: MMP13 were changed from to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400); ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111)
Mendeliome v0.9819 MMP13 Zornitza Stark Publications for gene: MMP13 were set to
Mendeliome v0.9818 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Mendeliome v0.9818 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Mendeliome v0.9818 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from to Osteogenesis imperfecta, type XIX, (MIM301014); IFAP syndrome with or without BRESHECK syndrome (MIM#308205); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); Olmsted syndrome, X-linked (MIM#300918)
Mendeliome v0.9817 MBTPS2 Zornitza Stark Publications for gene: MBTPS2 were set to
Mendeliome v0.9816 MBTPS2 Zornitza Stark Mode of inheritance for gene: MBTPS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9815 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Mendeliome v0.9815 MMP13 Zornitza Stark Mode of pathogenicity for gene: MMP13 was changed from to Other
Mendeliome v0.9814 IHH Zornitza Stark Phenotypes for gene: IHH were changed from to Acrocapitofemoral dysplasia MIM#607778; Brachydactyly, type A1 MIM#112500
Mendeliome v0.9813 IHH Zornitza Stark Publications for gene: IHH were set to
Mendeliome v0.9812 MMP13 Zornitza Stark Mode of inheritance for gene: MMP13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9811 IHH Zornitza Stark Mode of inheritance for gene: IHH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9810 KCTD1 Zornitza Stark Marked gene: KCTD1 as ready
Mendeliome v0.9810 KCTD1 Zornitza Stark Gene: kctd1 has been classified as Green List (High Evidence).
Mendeliome v0.9810 KCTD1 Zornitza Stark Phenotypes for gene: KCTD1 were changed from to Scalp-ear-nipple syndrome MIM#181270
Mendeliome v0.9809 KCTD1 Zornitza Stark Publications for gene: KCTD1 were set to
Mendeliome v0.9808 KCTD1 Zornitza Stark Mode of inheritance for gene: KCTD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9807 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Mendeliome v0.9807 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622
Mendeliome v0.9806 KCNJ2 Zornitza Stark Mode of pathogenicity for gene: KCNJ2 was changed from to Other
Mendeliome v0.9805 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9804 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Mendeliome v0.9804 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I (MIM#300000)
Mendeliome v0.9803 MID1 Zornitza Stark Publications for gene: MID1 were set to
Mendeliome v0.9802 MID1 Zornitza Stark Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9801 KAT6A Zornitza Stark Marked gene: KAT6A as ready
Mendeliome v0.9801 KAT6A Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence).
Mendeliome v0.9801 KAT6A Zornitza Stark Phenotypes for gene: KAT6A were changed from to Arboleda-Tham syndrome MIM#616268
Mendeliome v0.9800 MESP2 Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence).
Mendeliome v0.9800 MESP2 Zornitza Stark Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)
Mendeliome v0.9799 KAT6A Zornitza Stark Publications for gene: KAT6A were set to
Mendeliome v0.9798 MESP2 Zornitza Stark Publications for gene: MESP2 were set to
Mendeliome v0.9797 KAT6A Zornitza Stark Mode of inheritance for gene: KAT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9796 MESP2 Zornitza Stark Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9795 KAT6A Zornitza Stark reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9795 ZNF365 Zornitza Stark Gene: znf365 has been classified as Red List (Low Evidence).
Mendeliome v0.9795 ZNF365 Zornitza Stark Classified gene: ZNF365 as Red List (low evidence)
Mendeliome v0.9795 ZNF365 Zornitza Stark Gene: znf365 has been classified as Red List (Low Evidence).
Mendeliome v0.9794 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Green List (High Evidence).
Mendeliome v0.9794 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430
Mendeliome v0.9793 CRLF1 Zornitza Stark Publications for gene: CRLF1 were set to
Mendeliome v0.9792 CRLF1 Zornitza Stark Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9791 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9791 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Mendeliome v0.9791 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Mendeliome v0.9791 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Mendeliome v0.9790 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Mendeliome v0.9789 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9788 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11477613, 12410208, 8651281, 12410208, 8358442; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9788 COX7B Zornitza Stark Gene: cox7b has been classified as Green List (High Evidence).
Mendeliome v0.9788 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Mendeliome v0.9787 COX7B Zornitza Stark Publications for gene: COX7B were set to
Mendeliome v0.9786 COX7B Zornitza Stark Mode of inheritance for gene: COX7B 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)
Mendeliome v0.9785 COX7B Zornitza Stark reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9785 IRF6 Ain Roesley reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301581; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9785 MATN3 Daniel Flanagan reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31724101, 32025536, 11968079, 14729835; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728), Epiphyseal dysplasia, multiple, 5 (MIM#607078); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9785 INPPL1 Ain Roesley reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23273567, 34529350, 34094554; Phenotypes: Opsismodysplasia MIM#258480; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.9785 MAF Daniel Flanagan reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9785 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Mendeliome v0.9785 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Mendeliome v0.9784 COQ4 Zornitza Stark Publications for gene: COQ4 were set to
Mendeliome v0.9783 COQ4 Zornitza Stark Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9782 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9782 LRP4 Daniel Flanagan reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23636941, 23664847, 30041615, 20381006; Phenotypes: Cenani-Lenz syndactyly syndrome (MIM#212780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9782 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Mendeliome v0.9782 COLEC11 Zornitza Stark Phenotypes for gene: COLEC11 were changed from to 3MC syndrome 2, MIM# 265050
Mendeliome v0.9781 COLEC11 Zornitza Stark Publications for gene: COLEC11 were set to
Mendeliome v0.9780 COLEC11 Zornitza Stark Mode of inheritance for gene: COLEC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 COLEC11 Zornitza Stark reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 MLC1 Daniel Flanagan reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 MBTPS2 Daniel Flanagan reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894, 19361614, 21426410; Phenotypes: Osteogenesis imperfecta, type XIX, (MIM301014), IFAP syndrome with or without BRESHECK syndrome (MIM#308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800), ?Olmsted syndrome, X-linked (MIM#300918); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9779 MMP13 Daniel Flanagan reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 24781753, 24648384; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400), ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9779 IHH Ain Roesley reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 34530144, 12632327, 32311039, 29155992; Phenotypes: Acrocapitofemoral dysplasia MIM#607778, Brachydactyly, type A1 MIM#112500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9779 KIAA1109 Ain Roesley reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9779 KCTD1 Ain Roesley reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9779 KCNJ2 Ain Roesley commented on gene: KCNJ2: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative is the disease mechanism
Mendeliome v0.9779 KCNJ2 Ain Roesley reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9779 MID1 Daniel Flanagan reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1103076, 9354791; Phenotypes: Opitz GBBB syndrome, type I (MIM#300000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9779 KAT6A Ain Roesley reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245513; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9779 MESP2 Daniel Flanagan reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive (MIM#608681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 ZNF365 Ain Roesley reviewed gene: ZNF365: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9779 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Mendeliome v0.9779 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209
Mendeliome v0.9778 COG1 Zornitza Stark Publications for gene: COG1 were set to
Mendeliome v0.9777 COG1 Zornitza Stark Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9776 COG1 Zornitza Stark reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9776 NEBL Bryony Thompson Classified gene: NEBL as Amber List (moderate evidence)
Mendeliome v0.9776 NEBL Bryony Thompson Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7). Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7
Mendeliome v0.9776 NEBL Bryony Thompson Gene: nebl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9775 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Deafness, autosomal recessive 119, MIM# 619615
Mendeliome v0.9774 SPATA5L1 Zornitza Stark changed review comment from: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; to: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, compound het with another variant.
Mendeliome v0.9774 SPATA5L1 Zornitza Stark edited their review of gene: SPATA5L1: Added comment: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; Changed publications: 34626583; Changed phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616, Deafness, autosomal recessive 119, MIM# 619615
Mendeliome v0.9774 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9774 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Mendeliome v0.9774 MEIS2 Zornitza Stark Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)
Mendeliome v0.9773 MEIS2 Zornitza Stark Publications for gene: MEIS2 were set to
Mendeliome v0.9772 MEIS2 Zornitza Stark Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9771 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Mendeliome v0.9771 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Mendeliome v0.9770 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Mendeliome v0.9769 LAMA4 Zornitza Stark Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9768 LAMA4 Zornitza Stark Classified gene: LAMA4 as Red List (low evidence)
Mendeliome v0.9768 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Mendeliome v0.9767 LAMA4 Zornitza Stark Tag disputed tag was added to gene: LAMA4.
Mendeliome v0.9767 LAMA4 Zornitza Stark reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9767 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9766 DSTYK Zornitza Stark Classified gene: DSTYK as Amber List (moderate evidence)
Mendeliome v0.9766 DSTYK Zornitza Stark Gene: dstyk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9765 DSTYK Zornitza Stark edited their review of gene: DSTYK: Changed rating: AMBER
Mendeliome v0.9765 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605
Mendeliome v0.9764 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605
Mendeliome v0.9764 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.9763 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.9763 NR4A3 Ain Roesley reviewed gene: NR4A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9763 PRKG2 Zornitza Stark Publications for gene: PRKG2 were set to 33106379
Mendeliome v0.9762 PRKG2 Zornitza Stark reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34782440; Phenotypes: Acromesomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9762 MED17 Zornitza Stark Tag founder tag was added to gene: MED17.
Mendeliome v0.9762 MED17 Zornitza Stark edited their review of gene: MED17: Changed publications: 30345598, 33756211
Mendeliome v0.9762 MED17 Zornitza Stark changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures.

Note the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Mendeliome v0.9761 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Mendeliome v0.9760 CNTNAP2 Zornitza Stark Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9759 CNTNAP2 Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9759 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Mendeliome v0.9759 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from to Filippi syndrome, MIM# 272440
Mendeliome v0.9758 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Mendeliome v0.9757 CKAP2L Zornitza Stark Mode of inheritance for gene: CKAP2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9756 CKAP2L Zornitza Stark reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9756 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Mendeliome v0.9756 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from to Osteogenesis imperfecta, type VIII, MIM# 610915
Mendeliome v0.9755 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Mendeliome v0.9754 P3H1 Zornitza Stark Mode of inheritance for gene: P3H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9753 P3H1 Dean Phelan reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17277775, 19088120, 27864101, 33737016; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9753 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Mendeliome v0.9753 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Mendeliome v0.9753 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Mendeliome v0.9752 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Mendeliome v0.9751 CHST3 Zornitza Stark Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9750 CHST3 Zornitza Stark reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from to Intellectual developmental disorder, X-linked 21 MIM#300143
Mendeliome v0.9749 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Mendeliome v0.9748 IL1RAPL1 Zornitza Stark Mode of inheritance for gene: IL1RAPL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9747 IFITM5 Zornitza Stark Tag 5'UTR tag was added to gene: IFITM5.
Mendeliome v0.9747 IFITM5 Zornitza Stark Marked gene: IFITM5 as ready
Mendeliome v0.9747 IFITM5 Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence).
Mendeliome v0.9747 IFITM5 Zornitza Stark Phenotypes for gene: IFITM5 were changed from to Osteogenesis imperfecta, type V MIM#610967
Mendeliome v0.9746 IFITM5 Zornitza Stark Publications for gene: IFITM5 were set to
Mendeliome v0.9745 IFITM5 Zornitza Stark Mode of pathogenicity for gene: IFITM5 was changed from to Other
Mendeliome v0.9744 IFITM5 Zornitza Stark Mode of inheritance for gene: IFITM5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9743 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Mendeliome v0.9743 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Mendeliome v0.9742 CHRND Zornitza Stark Publications for gene: CHRND were set to
Mendeliome v0.9741 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9740 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 16916845, 11435464, 12499478, 18398509, 11782989, 29399782, 18252226; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9740 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Mendeliome v0.9740 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Mendeliome v0.9739 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Mendeliome v0.9738 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9737 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151, 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9737 IMPAD1 Ain Roesley reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9737 IL1RAPL1 Ain Roesley reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.9737 MAFB Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
Mendeliome v0.9737 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from to Multicentric carpotarsal osteolysis syndrome (MIM#166300); Duane retraction syndrome 3, MIM# 617041
Mendeliome v0.9736 MAFB Zornitza Stark Publications for gene: MAFB were set to
Mendeliome v0.9735 MAFB Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27181683; Phenotypes: Duane retraction syndrome 3, MIM# 617041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9735 IFITM5 Ain Roesley edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other
Mendeliome v0.9735 MAFB Zornitza Stark Mode of inheritance for gene: MAFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9734 ASIP Zornitza Stark Gene: asip has been classified as Red List (Low Evidence).
Mendeliome v0.9734 ASIP Zornitza Stark Classified gene: ASIP as Red List (low evidence)
Mendeliome v0.9734 ASIP Zornitza Stark Gene: asip has been classified as Red List (Low Evidence).
Mendeliome v0.9733 MAFB Daniel Flanagan reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9733 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9733 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mendeliome v0.9733 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Mendeliome v0.9732 CHKB Zornitza Stark Publications for gene: CHKB were set to
Mendeliome v0.9731 CHKB Zornitza Stark Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9730 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9730 CHAMP1 Zornitza Stark Gene: champ1 has been classified as Green List (High Evidence).
Mendeliome v0.9730 CHAMP1 Zornitza Stark Phenotypes for gene: CHAMP1 were changed from to Mental retardation, autosomal dominant 40 (MIM#616579)
Mendeliome v0.9729 CHAMP1 Zornitza Stark Publications for gene: CHAMP1 were set to
Mendeliome v0.9728 CHAMP1 Zornitza Stark Mode of inheritance for gene: CHAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9727 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9727 CFTR Zornitza Stark Marked gene: CFTR as ready
Mendeliome v0.9727 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Mendeliome v0.9727 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700; Congenital bilateral absence of vas deferens, MIM# 277180
Mendeliome v0.9726 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9725 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700, Congenital bilateral absence of vas deferens, MIM# 277180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9725 ASIP Ain Roesley reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.9725 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Mendeliome v0.9725 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Mendeliome v0.9725 ETV6 Zornitza Stark Phenotypes for gene: ETV6 were changed from to Thrombocytopaenia 5, MIM# 616216
Mendeliome v0.9724 ETV6 Zornitza Stark Publications for gene: ETV6 were set to
Mendeliome v0.9723 ETV6 Zornitza Stark Mode of inheritance for gene: ETV6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9722 ETV6 Zornitza Stark reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25581430, 25807284; Phenotypes: Thrombocytopaenia 5, MIM# 616216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9722 BSG Zornitza Stark Gene: bsg has been classified as Red List (Low Evidence).
Mendeliome v0.9722 BSG Zornitza Stark Phenotypes for gene: BSG were changed from to [Blood group, OK] MIM#111380
Mendeliome v0.9721 BSG Zornitza Stark Classified gene: BSG as Red List (low evidence)
Mendeliome v0.9721 BSG Zornitza Stark Gene: bsg has been classified as Red List (Low Evidence).
Mendeliome v0.9720 TPCN2 Zornitza Stark Marked gene: TPCN2 as ready
Mendeliome v0.9720 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Red List (Low Evidence).
Mendeliome v0.9720 TPCN2 Zornitza Stark Phenotypes for gene: TPCN2 were changed from to [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267
Mendeliome v0.9719 TPCN2 Zornitza Stark Publications for gene: TPCN2 were set to
Mendeliome v0.9718 TPCN2 Zornitza Stark Classified gene: TPCN2 as Red List (low evidence)
Mendeliome v0.9718 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Red List (Low Evidence).
Mendeliome v0.9717 MYO9B Zornitza Stark Gene: myo9b has been classified as Red List (Low Evidence).
Mendeliome v0.9717 MYO9B Zornitza Stark Phenotypes for gene: MYO9B were changed from to {Celiac disease, susceptibility to, 4} MIM#609753
Mendeliome v0.9716 MYO9B Zornitza Stark Publications for gene: MYO9B were set to
Mendeliome v0.9715 MYO9B Zornitza Stark Classified gene: MYO9B as Red List (low evidence)
Mendeliome v0.9715 MYO9B Zornitza Stark Gene: myo9b has been classified as Red List (Low Evidence).
Mendeliome v0.9714 HKDC1 Zornitza Stark Gene: hkdc1 has been classified as Red List (Low Evidence).
Mendeliome v0.9714 HKDC1 Zornitza Stark gene: HKDC1 was added
gene: HKDC1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HKDC1 were set to 30085091
Phenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614
Review for gene: HKDC1 was set to RED
Added comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Sources: Expert Review
Mendeliome v0.9713 BSG Paul De Fazio reviewed gene: BSG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, OK] MIM#111380; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 TPCN2 Paul De Fazio reviewed gene: TPCN2: Rating: RED; Mode of pathogenicity: None; Publications: 20197744, 26918892; Phenotypes: [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 MYO9B Paul De Fazio reviewed gene: MYO9B: Rating: RED; Mode of pathogenicity: None; Publications: 16720215, 16423886, 16282976; Phenotypes: {Celiac disease, susceptibility to, 4} MIM#609753; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Mendeliome v0.9713 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
Mendeliome v0.9712 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Mendeliome v0.9711 CENPJ Zornitza Stark Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9710 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; 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
Mendeliome v0.9710 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Mendeliome v0.9710 CDON Zornitza Stark Phenotypes for gene: CDON were changed from to Holoprosencephaly 11, MIM# 614226; MONDO:0013642
Mendeliome v0.9709 CDON Zornitza Stark Publications for gene: CDON were set to
Mendeliome v0.9708 CDON Zornitza Stark Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9707 CDON Zornitza Stark changed review comment from: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.; to: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.

Note single report of bi-allelic variants in association with coloboma: PMID 32729136
Mendeliome v0.9707 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9707 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Mendeliome v0.9707 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Mendeliome v0.9706 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Mendeliome v0.9705 CDH3 Zornitza Stark Mode of inheritance for gene: CDH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9704 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9704 EFHC1 Zornitza Stark Tag disputed tag was added to gene: EFHC1.
Mendeliome v0.9704 CPA6 Zornitza Stark Tag refuted tag was added to gene: CPA6.
Tag disputed tag was added to gene: CPA6.
Mendeliome v0.9704 MICAL1 Zornitza Stark Gene: mical1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9704 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9704 EFHC1 Bryony Thompson Classified gene: EFHC1 as Red List (low evidence)
Mendeliome v0.9704 EFHC1 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021
Mendeliome v0.9704 EFHC1 Bryony Thompson Gene: efhc1 has been classified as Red List (Low Evidence).
Mendeliome v0.9703 MICAL1 Bryony Thompson Classified gene: MICAL1 as Amber List (moderate evidence)
Mendeliome v0.9703 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9702 MICAL1 Bryony Thompson gene: MICAL1 was added
gene: MICAL1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: MICAL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MICAL1 were set to 29394500; 21638339
Phenotypes for gene: MICAL1 were set to Autosomal dominant epilepsy with auditory features (ADEAF)
Review for gene: MICAL1 was set to AMBER
Added comment: Two families with supporting in vitro functional assays. Assessment of expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model, suggests Mical-1 may associate with inner pathophysiological modulation in epilepsy.
Sources: Expert list
Mendeliome v0.9701 CPA6 Bryony Thompson Classified gene: CPA6 as Red List (low evidence)
Mendeliome v0.9701 CPA6 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP has reviewed both inheritances for gene-disease associations with epilepsy: AR disease is Disputed - There is contradictory case level and experimental data regarding any association between CPA6 and autosomal recessive epilepsy. Classification - 07/29/2021 AD disease is Refuted- There is very limited evidence supporting a gene-disease association. Many of the reported pathogenic variants have been subsequently identified as having a high minor allele frequency in population databases. Classification - 07/29/2021
Mendeliome v0.9701 CPA6 Bryony Thompson Gene: cpa6 has been classified as Red List (Low Evidence).
Mendeliome v0.9700 CNTN2 Bryony Thompson Publications for gene: CNTN2 were set to 23518707
Mendeliome v0.9699 CNTN2 Bryony Thompson Classified gene: CNTN2 as Amber List (moderate evidence)
Mendeliome v0.9699 CNTN2 Bryony Thompson Gene: cntn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9698 CNTN2 Bryony Thompson reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23518707, 34120799, 34691156; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9698 GON7 Zornitza Stark Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603
Mendeliome v0.9697 GON7 Zornitza Stark edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603
Mendeliome v0.9697 ADSSL1 Zornitza Stark Gene: adssl1 has been classified as Green List (High Evidence).
Mendeliome v0.9697 ADSSL1 Zornitza Stark Phenotypes for gene: ADSSL1 were changed from to Myopathy, distal, 5, MIM#617030
Mendeliome v0.9696 ADSSL1 Zornitza Stark Publications for gene: ADSSL1 were set to
Mendeliome v0.9695 ADSSL1 Zornitza Stark Mode of inheritance for gene: ADSSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9694 ADSSL1 Zornitza Stark reviewed gene: ADSSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26506222; Phenotypes: Myopathy, distal, 5, MIM#617030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9694 BRAT1 Zornitza Stark Marked gene: BRAT1 as ready
Mendeliome v0.9694 BRAT1 Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence).
Mendeliome v0.9694 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Mendeliome v0.9693 BRAT1 Zornitza Stark Publications for gene: BRAT1 were set to
Mendeliome v0.9692 BRAT1 Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9691 BRAT1 Zornitza Stark changed review comment from: At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: Expert list; to: Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) to neurodevelopmental disorder and cerebellar atrophy with or without seizures (NEDCAS), without obvious genotype-phenotype associations.

Multiple families reported with each.
Mendeliome v0.9691 BRAT1 Zornitza Stark edited their review of gene: BRAT1: Changed publications: 26483087, 26494257, 27282546, 22279524, 23035047, 25319849, 25500575, 34747546; Changed phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056, Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Mendeliome v0.9691 SRCAP Zornitza Stark Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Mendeliome v0.9690 SRCAP Zornitza Stark edited their review of gene: SRCAP: Changed phenotypes: Floating-Harbor syndrome MIM#136140, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595
Mendeliome v0.9690 CFAP45 Zornitza Stark Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Mendeliome v0.9689 CFAP45 Zornitza Stark edited their review of gene: CFAP45: Changed phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608
Mendeliome v0.9689 CFAP52 Zornitza Stark Phenotypes for gene: CFAP52 were changed from Heterotaxy to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Mendeliome v0.9688 CFAP52 Zornitza Stark edited their review of gene: CFAP52: Changed phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607
Mendeliome v0.9688 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Green List (High Evidence).
Mendeliome v0.9688 BMPR1B Zornitza Stark Phenotypes for gene: BMPR1B were changed from to Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600
Mendeliome v0.9687 BMPR1B Zornitza Stark Publications for gene: BMPR1B were set to
Mendeliome v0.9686 BMPR1B Zornitza Stark Mode of inheritance for gene: BMPR1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9685 BMPR1B Zornitza Stark reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076, 25758993, 14523231, 14523231; Phenotypes: Acromesomelic dysplasia, Demirhan type, MIM# 609441, Brachydactyly, type A1, D, MIM# 616849, Brachydactyly, type A2, MIM# 112600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9685 BMPER Zornitza Stark Gene: bmper has been classified as Green List (High Evidence).
Mendeliome v0.9685 BMPER Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022
Mendeliome v0.9684 BMPER Zornitza Stark Publications for gene: BMPER were set to
Mendeliome v0.9683 BMPER Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9682 BMPER Zornitza Stark Deleted their comment
Mendeliome v0.9682 BMPER Zornitza Stark commented on gene: BMPER: Perinatal lethal skeletal dysplasia.

The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.

At least 5 unrelated families reported.
Mendeliome v0.9682 BMPER Zornitza Stark edited their review of gene: BMPER: Changed publications: 20869035, 30006055
Mendeliome v0.9682 BMP4 Zornitza Stark Gene: bmp4 has been classified as Green List (High Evidence).
Mendeliome v0.9682 BMP4 Zornitza Stark Phenotypes for gene: BMP4 were changed from to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932
Mendeliome v0.9681 BMP4 Zornitza Stark Publications for gene: BMP4 were set to
Mendeliome v0.9680 BMP4 Zornitza Stark Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9679 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31053785, 19249007, 31909686, 21340693; Phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9679 BMP2 Zornitza Stark Gene: bmp2 has been classified as Green List (High Evidence).
Mendeliome v0.9679 BMP2 Zornitza Stark Phenotypes for gene: BMP2 were changed from to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877
Mendeliome v0.9678 BMP2 Zornitza Stark Publications for gene: BMP2 were set to
Mendeliome v0.9677 BMP2 Zornitza Stark Mode of inheritance for gene: BMP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9676 BMP2 Zornitza Stark reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9676 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Mendeliome v0.9676 BMP1 Zornitza Stark Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856
Mendeliome v0.9675 BMP1 Zornitza Stark Publications for gene: BMP1 were set to
Mendeliome v0.9674 BMP1 Zornitza Stark Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9673 BMP1 Zornitza Stark reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9673 BIN1 Zornitza Stark Gene: bin1 has been classified as Green List (High Evidence).
Mendeliome v0.9673 BIN1 Zornitza Stark Phenotypes for gene: BIN1 were changed from to Centronuclear myopathy 2, MIM# 255200
Mendeliome v0.9672 BIN1 Zornitza Stark Publications for gene: BIN1 were set to
Mendeliome v0.9671 BIN1 Zornitza Stark Mode of inheritance for gene: BIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9670 BIN1 Zornitza Stark reviewed gene: BIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17676042; Phenotypes: Centronuclear myopathy 2, MIM# 255200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9670 BHLHA9 Zornitza Stark Gene: bhlha9 has been classified as Green List (High Evidence).
Mendeliome v0.9670 BHLHA9 Zornitza Stark Phenotypes for gene: BHLHA9 were changed from to Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432
Mendeliome v0.9669 BHLHA9 Zornitza Stark Publications for gene: BHLHA9 were set to
Mendeliome v0.9668 BHLHA9 Zornitza Stark Mode of inheritance for gene: BHLHA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9667 BHLHA9 Zornitza Stark reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466284, 34272776, 31912643, 31152918, 30107244; Phenotypes: Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9667 DLL4 Zornitza Stark Gene: dll4 has been classified as Green List (High Evidence).
Mendeliome v0.9667 DLL4 Zornitza Stark Phenotypes for gene: DLL4 were changed from to Adams-Oliver syndrome 6, MIM#616589
Mendeliome v0.9666 DLL4 Zornitza Stark Publications for gene: DLL4 were set to
Mendeliome v0.9665 DLL4 Zornitza Stark Mode of inheritance for gene: DLL4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9664 DLL4 Zornitza Stark reviewed gene: DLL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26299364, 33899511, 31261205, 29924900; Phenotypes: Adams-Oliver syndrome 6 MIM#616589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9664 BFSP2 Zornitza Stark Gene: bfsp2 has been classified as Green List (High Evidence).
Mendeliome v0.9664 BFSP2 Zornitza Stark Phenotypes for gene: BFSP2 were changed from to Cataract 12, multiple types, MIM# 611597
Mendeliome v0.9663 BFSP2 Zornitza Stark Publications for gene: BFSP2 were set to
Mendeliome v0.9662 BFSP2 Zornitza Stark Mode of inheritance for gene: BFSP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9661 BFSP2 Zornitza Stark reviewed gene: BFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10729115, 10739768, 15570218, 24654948, 21836522; Phenotypes: Cataract 12, multiple types, MIM# 611597; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9661 B3GAT3 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: 26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.
Mendeliome v0.9661 HR Zornitza Stark Gene: hr has been classified as Green List (High Evidence).
Mendeliome v0.9661 HR Zornitza Stark Phenotypes for gene: HR were changed from to Alopecia universalis MIM#203655; Atrichia with papular lesions MIM#209500
Mendeliome v0.9660 HR Zornitza Stark Mode of inheritance for gene: HR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9659 HPSE2 Zornitza Stark Gene: hpse2 has been classified as Green List (High Evidence).
Mendeliome v0.9659 HPSE2 Zornitza Stark Phenotypes for gene: HPSE2 were changed from to Urofacial syndrome 1 MIM#236730
Mendeliome v0.9658 HPSE2 Zornitza Stark Publications for gene: HPSE2 were set to
Mendeliome v0.9657 HPSE2 Zornitza Stark Mode of inheritance for gene: HPSE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9656 HNRNPK Zornitza Stark Publications for gene: HNRNPK were set to 29904177
Mendeliome v0.9655 HNRNPK Zornitza Stark reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 30998304, 26173930, 29904177, 26954065, 28771707; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9655 HNRNPK Zornitza Stark Gene: hnrnpk has been classified as Green List (High Evidence).
Mendeliome v0.9655 HNRNPK Zornitza Stark Publications for gene: HNRNPK were set to
Mendeliome v0.9654 HNRNPK Zornitza Stark Phenotypes for gene: HNRNPK were changed from to Au-Kline syndrome MIM#616580
Mendeliome v0.9653 HNRNPK Zornitza Stark Mode of inheritance for gene: HNRNPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9652 HES7 Zornitza Stark Gene: hes7 has been classified as Green List (High Evidence).
Mendeliome v0.9652 HES7 Zornitza Stark Phenotypes for gene: HES7 were changed from to Spondylocostal dysostosis 4, autosomal recessive MIM#613686
Mendeliome v0.9651 HES7 Zornitza Stark Publications for gene: HES7 were set to
Mendeliome v0.9650 HES7 Zornitza Stark Mode of inheritance for gene: HES7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9649 DIS3L2 Zornitza Stark Gene: dis3l2 has been classified as Green List (High Evidence).
Mendeliome v0.9649 DIS3L2 Zornitza Stark Phenotypes for gene: DIS3L2 were changed from to Perlman syndrome MIM# 267000
Mendeliome v0.9648 DIS3L2 Zornitza Stark Publications for gene: DIS3L2 were set to
Mendeliome v0.9647 DIS3L2 Zornitza Stark Mode of inheritance for gene: DIS3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9646 DIS3L2 Zornitza Stark reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22306653, 28328139, 29950491; Phenotypes: Perlman syndrome MIM# 267000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9646 DDX3X Zornitza Stark Gene: ddx3x has been classified as Green List (High Evidence).
Mendeliome v0.9646 DDX3X Zornitza Stark Phenotypes for gene: DDX3X were changed from to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Mendeliome v0.9645 DDX3X Zornitza Stark Publications for gene: DDX3X were set to
Mendeliome v0.9644 DDX3X Zornitza Stark Mode of inheritance for gene: DDX3X 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)
Mendeliome v0.9643 DDX3X Zornitza Stark reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 30266093, 26235985, 25533962, 33528536, 30936465, 31274575, 30817323; Phenotypes: Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9643 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9643 SIK3 Zornitza Stark Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162 to Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Mendeliome v0.9642 SIK3 Zornitza Stark Classified gene: SIK3 as Amber List (moderate evidence)
Mendeliome v0.9642 SIK3 Zornitza Stark Gene: sik3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9641 HSD17B3 Zornitza Stark Gene: hsd17b3 has been classified as Green List (High Evidence).
Mendeliome v0.9641 HSD17B3 Zornitza Stark Phenotypes for gene: HSD17B3 were changed from to Pseudohermaphroditism, male, with gynecomastia MIM#264300
Mendeliome v0.9640 HSD17B3 Zornitza Stark Publications for gene: HSD17B3 were set to
Mendeliome v0.9639 HSD17B3 Zornitza Stark Mode of inheritance for gene: HSD17B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9638 HSD17B3 Zornitza Stark reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8550739, 11158067; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9638 HR Ain Roesley reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alopecia universalis MIM#203655, Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9638 HPSE2 Ain Roesley edited their review of gene: HPSE2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9638 HPSE2 Ain Roesley reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.9638 HNRNPK Ain Roesley reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9638 HES7 Ain Roesley reviewed gene: HES7: Rating: ; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9638 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Mendeliome v0.9638 MYH10 Zornitza Stark Classified gene: MYH10 as Green List (high evidence)
Mendeliome v0.9638 MYH10 Zornitza Stark Gene: myh10 has been classified as Green List (High Evidence).
Mendeliome v0.9637 C9orf3 Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence).
Mendeliome v0.9637 C9orf3 Zornitza Stark Classified gene: C9orf3 as Green List (high evidence)
Mendeliome v0.9637 C9orf3 Zornitza Stark Gene: c9orf3 has been classified as Green List (High Evidence).
Mendeliome v0.9636 C9orf3 Zornitza Stark gene: C9orf3 was added
gene: C9orf3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: C9orf3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C9orf3 were set to 34596301
Phenotypes for gene: C9orf3 were set to Dystonia 31, MIM# 619565
Review for gene: C9orf3 was set to GREEN
Added comment: Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family.

5 individuals from 4 unrelated families reported.

HGNC approved name is AOPEP.
Sources: Literature
Mendeliome v0.9635 TOP2B Zornitza Stark Phenotypes for gene: TOP2B were changed from Autosomal dominant deafness; Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies; Intellectual disability to Autosomal dominant deafness; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296; Intellectual disability
Mendeliome v0.9634 TOP2B Zornitza Stark edited their review of gene: TOP2B: Changed phenotypes: Autosomal dominant deafness, B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296, Intellectual disability
Mendeliome v0.9634 ASXL1 Zornitza Stark Gene: asxl1 has been classified as Green List (High Evidence).
Mendeliome v0.9634 ASXL1 Zornitza Stark Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome , MIM#605039
Mendeliome v0.9633 ASXL1 Zornitza Stark Publications for gene: ASXL1 were set to
Mendeliome v0.9632 ASXL1 Zornitza Stark Mode of inheritance for gene: ASXL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9631 ASXL1 Zornitza Stark changed review comment from: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints -- many of these features would be identifiable antenatally.; to: Bohring-Opitz syndrome is a malformation syndrome characterized by severe intrauterine growth retardation, poor feeding, profound ID, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

Multiple individuals reported.
Mendeliome v0.9631 ASXL1 Zornitza Stark reviewed gene: ASXL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29446906, 21706002; Phenotypes: Bohring-Opitz syndrome , MIM#605039; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9631 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Mendeliome v0.9631 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from to Asparagine synthetase deficiency, MIM#615574
Mendeliome v0.9630 ASNS Zornitza Stark Publications for gene: ASNS were set to
Mendeliome v0.9629 ASNS Zornitza Stark Mode of inheritance for gene: ASNS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9628 ASNS Zornitza Stark edited their review of gene: ASNS: Changed publications: 24139043
Mendeliome v0.9628 SIK3 Krithika Murali gene: SIK3 was added
gene: SIK3 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Review for gene: SIK3 was set to AMBER
Added comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.

In addition to the skeletal phenotype, the siblings manifested significant developmental delay with brain MRI abnormalities, a severe unclassified immunodeficiency, and normal parathyroid hormone concentration with mild hypercalcemia.

One sibling had a more severe phenotype, particularly immunodeficiency, and died of Epstein-Barr virus induced small muscle cancer at 10 years of age.

Mouse models support impaired chondrocyte development with skeletal dysplasia phenotye.
Sources: Expert list, Literature
Mendeliome v0.9628 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Mendeliome v0.9628 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Mendeliome v0.9628 ANTXR1 Zornitza Stark Phenotypes for gene: ANTXR1 were changed from to GAPO syndrome, MIM# 230740
Mendeliome v0.9627 ANTXR1 Zornitza Stark Publications for gene: ANTXR1 were set to
Mendeliome v0.9626 ANTXR1 Zornitza Stark Mode of inheritance for gene: ANTXR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9625 ANTXR1 Zornitza Stark reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9625 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Mendeliome v0.9625 ANOS1 Zornitza Stark Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Mendeliome v0.9624 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Mendeliome v0.9623 ANOS1 Zornitza Stark Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9622 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9622 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Mendeliome v0.9622 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Mendeliome v0.9622 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from to Cutis laxa, autosomal recessive, type IC, MIM# 613177
Mendeliome v0.9621 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Mendeliome v0.9620 LTBP4 Zornitza Stark Mode of inheritance for gene: LTBP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9619 LTBP4 Zornitza Stark reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427, 19836010, 28684544; Phenotypes: Cutis laxa, autosomal recessive, type IC, MIM# 613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9619 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Mendeliome v0.9619 EFEMP2 Zornitza Stark Phenotypes for gene: EFEMP2 were changed from to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Mendeliome v0.9618 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Mendeliome v0.9617 EFEMP2 Zornitza Stark Mode of inheritance for gene: EFEMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9616 EFEMP2 Zornitza Stark reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30140196, 23532871, 31548410, 19664000; Phenotypes: Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9616 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

Other reported phenotypic features include microcephaly (4/5), IUGR/failure to thrive (4/5), cerebral atrophy (3/5), hydrocephalus (2/5), congenital bilateral hip dysplasia (2/5), cerebellar atrophy (1/5), congenital diaphragmatic hernia (1/5), cranial nerve palsy (1/5), nystagmus (1/5), dysplastic kidney (1/5).

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Mendeliome v0.9616 CSF2RB Zornitza Stark Gene: csf2rb has been classified as Green List (High Evidence).
Mendeliome v0.9616 CSF2RB Zornitza Stark Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370
Mendeliome v0.9615 CSF2RB Zornitza Stark Publications for gene: CSF2RB were set to
Mendeliome v0.9614 CSF2RB Zornitza Stark Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9613 CSF2RB Zornitza Stark reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205713, 27514590, 7568173, 30846703; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9613 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Mendeliome v0.9613 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Mendeliome v0.9612 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Mendeliome v0.9611 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9610 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9610 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Mendeliome v0.9609 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 29866761; 32462814
Mendeliome v0.9608 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Mendeliome v0.9608 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Mendeliome v0.9607 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Mendeliome v0.9607 COG6 Zornitza Stark changed review comment from: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferring isoforms recorded creating confusion about whether it represents a distinct entity.; to: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferrin isoforms recorded creating confusion about whether it represents a distinct entity.
Mendeliome v0.9607 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to Intellectual disability; Epilepsy
Mendeliome v0.9606 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074
Mendeliome v0.9605 OTUD7A Zornitza Stark Classified gene: OTUD7A as Amber List (moderate evidence)
Mendeliome v0.9605 OTUD7A Zornitza Stark Gene: otud7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9604 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Changed phenotypes: Intellectual disability, Epilepsy
Mendeliome v0.9604 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Added comment: Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.; Changed rating: AMBER; Changed publications: 31997314, 29395075, 29395074, 33381903
Mendeliome v0.9604 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Mendeliome v0.9604 GNAQ Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence).
Mendeliome v0.9604 GNAQ Zornitza Stark Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis
Mendeliome v0.9603 GNAQ Zornitza Stark Publications for gene: GNAQ were set to
Mendeliome v0.9602 GNAQ Zornitza Stark Mode of pathogenicity for gene: GNAQ was changed from to Other
Mendeliome v0.9601 GNAQ Zornitza Stark Mode of inheritance for gene: GNAQ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9600 GNAQ Zornitza Stark reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161; Phenotypes: Sturge-Weber syndrome, somatic, mosaic 185300, Capillary malformations, congenital, 1, somatic, mosaic 163000, Phacomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9600 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.9600 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM# 614279; Obesity
Mendeliome v0.9599 AKR1C2 Zornitza Stark Publications for gene: AKR1C2 were set to
Mendeliome v0.9598 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9597 AKR1C2 Zornitza Stark Classified gene: AKR1C2 as Red List (low evidence)
Mendeliome v0.9597 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.9596 AKR1C2 Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: 21802064, 25322899, 33675863; Phenotypes: 46XY sex reversal 8, MIM# 614279, Obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9596 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Mendeliome v0.9596 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373
Mendeliome v0.9595 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Mendeliome v0.9594 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 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)
Mendeliome v0.9593 AMER1 Zornitza Stark reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9593 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Mendeliome v0.9593 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540
Mendeliome v0.9592 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Mendeliome v0.9591 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9590 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9590 NUP85 Eleanor Williams reviewed gene: NUP85: Rating: ; Mode of pathogenicity: None; Publications: 34170319; Phenotypes: intellectual disability, Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH–SCKS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9590 GNB2 Eleanor Williams reviewed gene: GNB2: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.9590 GNAQ Eleanor Williams reviewed gene: GNAQ: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: None
Mendeliome v0.9590 TUB Zornitza Stark Marked gene: TUB as ready
Mendeliome v0.9590 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9590 TUB Zornitza Stark Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188
Mendeliome v0.9589 TUB Zornitza Stark Publications for gene: TUB were set to
Mendeliome v0.9588 TUB Zornitza Stark Mode of inheritance for gene: TUB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9587 TUB Zornitza Stark Classified gene: TUB as Amber List (moderate evidence)
Mendeliome v0.9587 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9586 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9586 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Mendeliome v0.9586 KSR2 Zornitza Stark gene: KSR2 was added
gene: KSR2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KSR2 was set to Other
Publications for gene: KSR2 were set to 29273807; 24209692
Phenotypes for gene: KSR2 were set to Obesity
Review for gene: KSR2 was set to RED
Added comment: PMID: 24209692 Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in energy homeostasis. PMID: 29273807 GWAS identified KSR2 (13 genes studied) implicated in extreme obesity.
Sources: Expert Review
Mendeliome v0.9585 SIM1 Zornitza Stark Phenotypes for gene: SIM1 were changed from to congenital obesity; Prader-Willi-like syndrome
Mendeliome v0.9584 SIM1 Zornitza Stark Publications for gene: SIM1 were set to
Mendeliome v0.9583 SIM1 Zornitza Stark Mode of inheritance for gene: SIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9582 SIM1 Zornitza Stark Classified gene: SIM1 as Green List (high evidence)
Mendeliome v0.9582 SIM1 Zornitza Stark Gene: sim1 has been classified as Green List (High Evidence).
Mendeliome v0.9581 SIM1 Zornitza Stark Deleted their comment
Mendeliome v0.9581 SIM1 Zornitza Stark edited their review of gene: SIM1: Added comment: At least 20 probands with reduced penetrance reported.

PMID:33434169;
1x missense inherited from normal mother

PMID:30926952;
2x unrelated - 1 missense 1 splice. Family history noted

PMID:23778136;
4 children with clinical features of PWL syndrome, including severe obesity - all missense
1x inherited from normal father

PMID:23778139;
at least 13 families with segregation and reduced penetrance evidence - all missense
In vitro luciferase done to show LoF

NOTE:
Individuals with Prader-Willi-like phenotype may have 6q16.2del instead, which encompasses SIM1; Changed rating: GREEN; Changed publications: 33434169, 30926952, 23778136, 23778139; Changed phenotypes: congenital obesity, Prader-Willi-like syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9581 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Mendeliome v0.9581 POMC Zornitza Stark Phenotypes for gene: POMC were changed from to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Mendeliome v0.9580 POMC Zornitza Stark Publications for gene: POMC were set to
Mendeliome v0.9579 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Mendeliome v0.9579 MLIP Zornitza Stark Phenotypes for gene: MLIP were changed from 34581780 to MLIP-related myopathy with rhabdomyolysis
Mendeliome v0.9578 MLIP Zornitza Stark Publications for gene: MLIP were set to
Mendeliome v0.9577 MLIP Zornitza Stark Classified gene: MLIP as Green List (high evidence)
Mendeliome v0.9577 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Mendeliome v0.9576 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Mendeliome v0.9575 MLIP Michelle Torres edited their review of gene: MLIP: Changed publications: 34581780; Changed phenotypes: MLIP-related myopathy with rhabdomyolysis
Mendeliome v0.9575 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Mendeliome v0.9575 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Episodic ataxia, type 2 MIM#108500
Mendeliome v0.9574 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Mendeliome v0.9573 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9572 KIAA0391 Lucy Spencer edited their review of gene: KIAA0391: Changed rating: GREEN
Mendeliome v0.9572 CACNA1A Anna Ritchie reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9572 KIAA0391 Zornitza Stark edited their review of gene: KIAA0391: Changed rating: GREEN
Mendeliome v0.9572 KIAA0391 Zornitza Stark Added comment: Comment when marking as ready: Note gene is referred to as PRORP in the manuscript, but HGNC approved name is KIAA0391.
Mendeliome v0.9572 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mendeliome v0.9572 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from to Mitochondrial disorder
Mendeliome v0.9571 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Mendeliome v0.9571 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mendeliome v0.9570 STT3A Zornitza Stark Marked gene: STT3A as ready
Mendeliome v0.9570 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Mendeliome v0.9570 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw MIM#615596
Mendeliome v0.9569 KIAA0391 Lucy Spencer changed review comment from: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.

All variants are in p.400s.
Sources: Literature; to: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.

All variants are in p.400s.
Sources: Literature
Mendeliome v0.9569 STT3A Zornitza Stark Publications for gene: STT3A were set to
Mendeliome v0.9568 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9567 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Added comment: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

-1 consanguineous family with homozygous missense in 3 affected sisters, het parents unaffected. Siblings had profound bilateral SNHL in infancy. In teens developed primary amenorrhea/Perrault syndrome, and hypergonadotropic hypogonadism.
-1 unrelated male with compound het missense, each inherited from an unaffected parent. Hearing loss noted at 3, diagnosed at 5.
-1 unrelated male compound het for a missense and a frameshift. appendicular hypertonia in infancy, mild dysmorphism. Severe global dev delay at 20 months. Normal hearing at 18 months, but at 3 years had bilateral SNHL.
-an affected mother and her 2 affected children (son and daughter), homozygous for a missense. Father is heterozygous and unaffected. Son has psychotic disorder, autistic traits. Sister had intrauterine growth retardation, global developmental delay, and seizures in the first years of life. Mother presented with retrobulbar optic neuritis and tonic pupil at 39 years of age, then with asthenia, myalgias, memory loss, and frequent headaches.

All variants are in p.400s.
Sources: Literature
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Mendeliome v0.9566 MLIP Michelle Torres gene: MLIP was added
gene: MLIP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLIP were set to 34581780
Review for gene: MLIP was set to GREEN
Added comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).

In 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.

Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Sources: Literature
Mendeliome v0.9566 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9566 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Mendeliome v0.9566 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9565 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9565 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9565 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from infantile onsetHereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset
Mendeliome v0.9564 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.
Sources: Literature
Mendeliome v0.9564 KPNA3 Zornitza Stark Classified gene: KPNA3 as Green List (high evidence)
Mendeliome v0.9564 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9563 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Mendeliome v0.9563 KPNA3 Ain Roesley gene: KPNA3 was added
gene: KPNA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to 34564892
Phenotypes for gene: KPNA3 were set to infantile onsetHereditary Spastic Paraplegia
Penetrance for gene: KPNA3 were set to Complete
Review for gene: KPNA3 was set to GREEN
gene: KPNA3 was marked as current diagnostic
Added comment: 8 affecteds from 5 families with infantile-onset pure HSP
all missense variants, in vitro functional demonstrated reduced cargo binding
Noted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS
Sources: Literature
Mendeliome v0.9563 POMC Zornitza Stark Mode of inheritance for gene: POMC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9562 POMC Zornitza Stark reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9562 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Mendeliome v0.9562 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Mendeliome v0.9561 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Mendeliome v0.9560 PHF6 Zornitza Stark Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9559 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16912705; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9559 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Mendeliome v0.9559 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing MIM#600955
Mendeliome v0.9558 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Mendeliome v0.9557 PCSK1 Zornitza Stark Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9556 PCSK1 Zornitza Stark reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9556 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9556 SLC4A3 Zornitza Stark Classified gene: SLC4A3 as Amber List (moderate evidence)
Mendeliome v0.9556 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Amber List (moderate evidence)
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9554 Zornitza Stark removed gene:DIP2B from the panel
Mendeliome v0.9553 Zornitza Stark removed gene:CNBP from the panel
Mendeliome v0.9552 Zornitza Stark removed gene:BEAN1 from the panel
Mendeliome v0.9551 Zornitza Stark removed gene:ATXN7 from the panel
Mendeliome v0.9550 Zornitza Stark removed gene:ATXN3 from the panel
Mendeliome v0.9549 Zornitza Stark removed gene:ATXN2 from the panel
Mendeliome v0.9548 Zornitza Stark removed gene:ATXN10 from the panel
Mendeliome v0.9547 Zornitza Stark removed gene:ATXN1 from the panel
Mendeliome v0.9546 Zornitza Stark removed gene:ATP13A2 from the panel
Mendeliome v0.9545 Zornitza Stark removed gene:ACTC1 from the panel
Mendeliome v0.9544 Zornitza Stark removed gene:BGN from the panel
Mendeliome v0.9543 EHBP1L1 Krithika Murali gene: EHBP1L1 was added
gene: EHBP1L1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786
Phenotypes for gene: EHBP1L1 were set to Non-immune hydrops fetalis
Review for gene: EHBP1L1 was set to AMBER
Added comment: No OMIM gene disease association.

Biallelic EHBP1L1 variants identified in 2 consanguineous families from Saudi Arabia with non-immune hydrops fetalis resulting in recurrent fetal loss. Supportive mouse models for this phenotype also reported.
Sources: Expert list, Literature
Mendeliome v0.9543 Zornitza Stark removed gene:COL3A1 from the panel
Mendeliome v0.9542 Zornitza Stark removed gene:BRCA2 from the panel
Mendeliome v0.9541 Zornitza Stark removed gene:CACNA1C from the panel
Mendeliome v0.9540 Zornitza Stark removed gene:CDH1 from the panel
Mendeliome v0.9539 COL3A1 Krithika Murali gene: COL3A1 was added
gene: COL3A1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: COL3A1 was set to Other
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type - MIM#130050; Polymicrogyria with or without vascular-type EDS - #618343
Review for gene: COL3A1 was set to GREEN
Added comment: ClinGen validated gene-disease relationship with autosomal dominant vascular EDS

Also well-established phenotype with polymicrogyria with biallelic variants in COL3A1


AD - Ehlers Danlos vascular type
AR - Polymicrogyria with or without vascular type EDS
Sources: Expert list, Literature
Mendeliome v0.9539 GNPNAT1 Zornitza Stark Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Mendeliome v0.9538 GNPNAT1 Zornitza Stark reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9538 CDH1 Krithika Murali gene: CDH1 was added
gene: CDH1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1- MIM#119580; Cleft lip and palate
Review for gene: CDH1 was set to GREEN
Added comment: Well-established gene-disease association with blepharocheilodontic syndrome (BDC) and orofacial clefting.

Gene also associated with cancer predisposition - diffuse gastric cancer (juvenile onset reported) and lobular breast cancer.
Sources: Expert list, Literature
Mendeliome v0.9538 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Nonsyndromic neurodevelopmental disorder, autosomal dominant to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Mendeliome v0.9537 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9537 CACNA1C Krithika Murali gene: CACNA1C was added
gene: CACNA1C was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1C were set to Timothy syndrome - MIM# 601005; Neurodevelopmental abnormalities and epilepsy, no OMIM#; Long QT syndrome 8- MIM#618447
Review for gene: CACNA1C was set to GREEN
Added comment: Well-established gene-disease association with Timothy Syndrome

Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome.
Sources: Expert list, Literature
Mendeliome v0.9537 BRCA2 Krithika Murali gene: BRCA2 was added
gene: BRCA2 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 - MIM# 605724
Review for gene: BRCA2 was set to GREEN
Added comment: Well-established gene disease association
Sources: Expert list, Literature
Mendeliome v0.9537 BGN Krithika Murali gene: BGN was added
gene: BGN was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: BGN was set to Other
Publications for gene: BGN were set to 27236923; 27632686
Phenotypes for gene: BGN were set to Meester-Loeys syndrome - #300989; Spondyloepimetaphyseal dysplasia, X-linked - #300106
Review for gene: BGN was set to GREEN
Added comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) and Meester-Loeys syndrome (connective tissue disorder with phenotypic features including aortic dissection, aortic aneurysym, dysmorphism, joint hypermobility and mild skeletal dysplasia - with juvenile-onset reported in males)

SEMD - X-linked recessive inheritance
Meester-Loeys syndrome - hemizygous males, monoallelic mutations may cause disease in females (may be less severe, later onset than males)
Sources: Expert list, Literature
Mendeliome v0.9537 ATP13A2 Krithika Murali gene: ATP13A2 was added
gene: ATP13A2 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 1694263
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome - MIM#606693
Review for gene: ATP13A2 was set to GREEN
Added comment: Well-established gene-disease association with Kufor-Rakeb syndrome, a form of autosomal recessive hereditary parkinsonism and dementia showing juvenile onset, as well as neuronal ceroid lipofucinosis (NCL) features in some families. Also associated with adult-onset hereditary spastic paraparesis.
Sources: Expert list, Literature
Mendeliome v0.9537 ACTC1 Krithika Murali gene: ACTC1 was added
gene: ACTC1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26061005; 17947298; 31430208; 18403758; 30384889
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5, MIM# 612794; Cardiomyopathy, dilated, 1R - MIM# 613424; Cardiomyopathy, hypertrophic, 11 - #612098
Review for gene: ACTC1 was set to GREEN
Added comment: Four families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies, including paediatric-onset dilated and hypertrophic cardiomyopathy.
Sources: Expert list, Literature
Mendeliome v0.9537 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9537 CEP19 Zornitza Stark Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure MIM#615703 to Morbid obesity and spermatogenic failure MIM#615703; Bardet-Biedl syndorme
Mendeliome v0.9536 CEP19 Zornitza Stark edited their review of gene: CEP19: Changed rating: AMBER
Mendeliome v0.9536 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Mendeliome v0.9536 MUC5B Zornitza Stark Phenotypes for gene: MUC5B were changed from to {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500
Mendeliome v0.9535 MUC5B Zornitza Stark Publications for gene: MUC5B were set to
Mendeliome v0.9534 MUC5B Zornitza Stark Mode of inheritance for gene: MUC5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9533 MUC5B Zornitza Stark Classified gene: MUC5B as Red List (low evidence)
Mendeliome v0.9533 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Mendeliome v0.9532 MUC5B Zornitza Stark Tag 5'UTR tag was added to gene: MUC5B.
Mendeliome v0.9532 MUC5B Zornitza Stark reviewed gene: MUC5B: Rating: RED; Mode of pathogenicity: None; Publications: 21506741, 21506748; Phenotypes: {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9532 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Mendeliome v0.9532 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358
Mendeliome v0.9531 AHDC1 Zornitza Stark Publications for gene: AHDC1 were set to
Mendeliome v0.9530 AHDC1 Zornitza Stark Mode of inheritance for gene: AHDC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9529 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829, AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9529 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
Mendeliome v0.9529 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Mendeliome v0.9529 AGTR1 Zornitza Stark Phenotypes for gene: AGTR1 were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9528 AGTR1 Zornitza Stark Publications for gene: AGTR1 were set to
Mendeliome v0.9527 AGTR1 Zornitza Stark Mode of inheritance for gene: AGTR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9526 AGTR1 Zornitza Stark reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9526 AGT Zornitza Stark Marked gene: AGT as ready
Mendeliome v0.9526 AGT Zornitza Stark Gene: agt has been classified as Green List (High Evidence).
Mendeliome v0.9526 AGT Zornitza Stark Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9525 AGT Zornitza Stark Publications for gene: AGT were set to
Mendeliome v0.9524 AGT Zornitza Stark Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9523 AGT Zornitza Stark reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 34234805, 33163725; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9523 PANK4 Zornitza Stark Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract
Mendeliome v0.9522 PANK4 Zornitza Stark edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Phenotypes for gene: ADAMTS17 were changed from to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Mendeliome v0.9521 ADAMTS17 Zornitza Stark Publications for gene: ADAMTS17 were set to
Mendeliome v0.9520 ADAMTS17 Zornitza Stark Mode of inheritance for gene: ADAMTS17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9519 ADAMTS17 Zornitza Stark reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034, 30712880; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9519 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Mendeliome v0.9519 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from to Aminoacylase 1 deficiency, MIM# 609924
Mendeliome v0.9518 ACY1 Zornitza Stark Publications for gene: ACY1 were set to
Mendeliome v0.9517 ACY1 Zornitza Stark Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9516 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16274666, 16465618, 17562838, 24117009; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9516 ACE Zornitza Stark Gene: ace has been classified as Green List (High Evidence).
Mendeliome v0.9516 ACE Zornitza Stark Phenotypes for gene: ACE were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9515 ACE Zornitza Stark Publications for gene: ACE were set to
Mendeliome v0.9514 ACE Zornitza Stark Mode of inheritance for gene: ACE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9513 ACE Zornitza Stark reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9513 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Mendeliome v0.9513 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from to VLCAD deficiency, MIM# 201475
Mendeliome v0.9512 ACADVL Zornitza Stark Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9511 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9511 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features
Mendeliome v0.9510 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features
Mendeliome v0.9510 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Mendeliome v0.9510 FAN1 Zornitza Stark Phenotypes for gene: FAN1 were changed from to Interstitial nephritis, karyomegalic, MIM# 614817
Mendeliome v0.9509 FAN1 Zornitza Stark Publications for gene: FAN1 were set to
Mendeliome v0.9508 FAN1 Zornitza Stark Mode of inheritance for gene: FAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9507 FAN1 Zornitza Stark reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22772369, 16678356, 7847351, 8546134; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9507 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta, MIM# 248510; MONDO:0009562 to Mannosidosis, beta, MIM# 248510; MONDO:0009562; Nystagmus, autosomal dominant
Mendeliome v0.9506 MANBA Zornitza Stark Publications for gene: MANBA were set to
Mendeliome v0.9505 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9504 MANBA Zornitza Stark changed review comment from: Variable severity. Well established gene-disease association.; to: Bi-allelic variants and lysosomal storage disorder: Variable severity. Well established gene-disease association.
Mendeliome v0.9504 MANBA Zornitza Stark changed review comment from: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; to: Two mono-allelic variants reported in association with isolated nystagmus.
Mendeliome v0.9504 MANBA Zornitza Stark edited their review of gene: MANBA: Added comment: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; Changed publications: 30552791, 25741867; Changed phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562, Nystagmus, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9504 AHR Zornitza Stark reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31009037, 33193710; Phenotypes: Foveal hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9504 RDH5 Zornitza Stark Publications for gene: RDH5 were set to 32232344
Mendeliome v0.9503 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9502 RDH5 Zornitza Stark reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369264; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9502 ETHE1 Zornitza Stark commented on gene: ETHE1: Severe metabolic disorder characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.
Mendeliome v0.9502 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Mendeliome v0.9502 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Mendeliome v0.9502 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy, MIM#602473
Mendeliome v0.9501 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Mendeliome v0.9500 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9499 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9499 RHO Zornitza Stark Gene: rho has been classified as Green List (High Evidence).
Mendeliome v0.9499 RHO Zornitza Stark Phenotypes for gene: RHO were changed from to Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731
Mendeliome v0.9498 RHO Zornitza Stark Publications for gene: RHO were set to
Mendeliome v0.9497 RHO Zornitza Stark Mode of inheritance for gene: RHO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9496 RHO Zornitza Stark reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: None; Publications: 18487375, 27812022, 31213501, 1303237; Phenotypes: Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445, Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9496 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Mendeliome v0.9496 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from to Leber congenital amaurosis 13, MIM# 612712; Retinitis pigmentosa, autosomal dominant
Mendeliome v0.9495 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Mendeliome v0.9494 RDH12 Zornitza Stark Mode of inheritance for gene: RDH12 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9493 RDH12 Zornitza Stark reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 16269441, 15322982, 15258582, 31505163; Phenotypes: Leber congenital amaurosis 13, MIM# 612712, Retinitis pigmentosa, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9493 RD3 Zornitza Stark Gene: rd3 has been classified as Green List (High Evidence).
Mendeliome v0.9493 RD3 Zornitza Stark Phenotypes for gene: RD3 were changed from to Leber congenital amaurosis 12, MIM#610612
Mendeliome v0.9492 RD3 Zornitza Stark Publications for gene: RD3 were set to
Mendeliome v0.9491 RD3 Zornitza Stark Mode of inheritance for gene: RD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9490 RD3 Zornitza Stark reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101, 22531706, 17186464; Phenotypes: Leber congenital amaurosis 12, MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9490 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585
Mendeliome v0.9489 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582, Spermatogenic failure 58, MIM# 619585
Mendeliome v0.9489 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
Mendeliome v0.9488 EXOSC5 Zornitza Stark reviewed gene: EXOSC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9488 ETHE1 Melanie Marty reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9488 PRPH2 Zornitza Stark edited their review of gene: PRPH2: Changed phenotypes: Leber congenital amaurosis 18, MIM#608133, Macular dystrophy, vitelliform, 3, MIM#608161, Retinitis pigmentosa 7 and digenic form, MIM#608133, Choroidal dystrophy, central areolar 2, MIM#613105, Macular dystrophy, patterned, 1, MIM#169150 Retinitis punctata albescens, MIM#136880
Mendeliome v0.9488 PRPH2 Zornitza Stark Gene: prph2 has been classified as Green List (High Evidence).
Mendeliome v0.9488 PRPH2 Zornitza Stark Phenotypes for gene: PRPH2 were changed from Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133 to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880
Mendeliome v0.9487 PRPH2 Zornitza Stark Phenotypes for gene: PRPH2 were changed from to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133
Mendeliome v0.9486 PRPH2 Zornitza Stark Publications for gene: PRPH2 were set to
Mendeliome v0.9485 PRPH2 Zornitza Stark Mode of inheritance for gene: PRPH2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9484 PRPH2 Zornitza Stark reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32660024; Phenotypes: Leber congenital amaurosis 18, MIM#608133 Macular dystrophy, vitelliform, 3, MIM#608161 Retinitis pigmentosa 7 and digenic form, MIM#608133 Choroidal dystrophy, central areolar 2, MIM#613105 Macular dystrophy, patterned, 1, MIM#169150 Retinitis punctata albescens, MIM#136880; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9484 XBP1 Zornitza Stark Gene: xbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.9484 XBP1 Zornitza Stark Publications for gene: XBP1 were set to
Mendeliome v0.9483 XBP1 Zornitza Stark Classified gene: XBP1 as Red List (low evidence)
Mendeliome v0.9483 XBP1 Zornitza Stark Gene: xbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.9482 Zornitza Stark removed gene:ACTC1 from the panel
Mendeliome v0.9481 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9481 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047; 8757136
Mendeliome v0.9480 BCL9L Zornitza Stark Classified gene: BCL9L as Amber List (moderate evidence)
Mendeliome v0.9480 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9479 BCL9L Zornitza Stark reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart disease; Mode of inheritance: None
Mendeliome v0.9479 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Green List (High Evidence).
Mendeliome v0.9479 IMPDH1 Zornitza Stark Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)
Mendeliome v0.9478 IMPDH1 Zornitza Stark Publications for gene: IMPDH1 were set to
Mendeliome v0.9477 IMPDH1 Zornitza Stark Mode of inheritance for gene: IMPDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9476 IMPDH1 Zornitza Stark reviewed gene: IMPDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16384941; Phenotypes: Leber congenital amaurosis 11 (MIM# 613837), Retinitis pigmentosa 10 (MIM# 180105); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9476 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Green List (High Evidence).
Mendeliome v0.9476 KCNJ13 Zornitza Stark Phenotypes for gene: KCNJ13 were changed from to Leber congenital amaurosis 16 MIM#614186; Snowflake vitreoretinal degeneration, MIM# 193230
Mendeliome v0.9475 KCNJ13 Zornitza Stark Publications for gene: KCNJ13 were set to
Mendeliome v0.9474 KCNJ13 Zornitza Stark Mode of inheritance for gene: KCNJ13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9473 KCNJ13 Zornitza Stark changed review comment from: LCA and bi-allelic variants: at least 4 individuals reported. Green.

Single family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red.; to: Variants in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD), though individuals with bi-allelic variants and LCA with subsequent fibrovascular proliferation described (PMID 31647904).

LCA and bi-allelic variants: at least 4 individuals reported. Green.

Single family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red.
Mendeliome v0.9473 KCNJ13 Zornitza Stark reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27203561, 25475713, 21763485, 18179896, 23255580, 31647904; Phenotypes: Leber congenital amaurosis 16 MIM#614186, Snowflake vitreoretinal degeneration, MIM# 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9473 LRIT3 Zornitza Stark Marked gene: LRIT3 as ready
Mendeliome v0.9473 LRIT3 Zornitza Stark Gene: lrit3 has been classified as Green List (High Evidence).
Mendeliome v0.9473 LRIT3 Zornitza Stark Phenotypes for gene: LRIT3 were changed from to Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058
Mendeliome v0.9472 LRIT3 Zornitza Stark Publications for gene: LRIT3 were set to
Mendeliome v0.9471 LRIT3 Zornitza Stark Mode of inheritance for gene: LRIT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9470 LRIT3 Zornitza Stark reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 24598786, 31578364, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9470 NYX Zornitza Stark Gene: nyx has been classified as Green List (High Evidence).
Mendeliome v0.9470 NYX Zornitza Stark Phenotypes for gene: NYX were changed from to Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500
Mendeliome v0.9469 BCL9L Krithika Murali gene: BCL9L was added
gene: BCL9L was added to Mendeliome. Sources: Literature,Expert list,Other
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047; 8757136
Phenotypes for gene: BCL9L were set to Heterotaxy; Congenital Heart Disease
Review for gene: BCL9L was set to AMBER
Added comment: Novel gene disease assocaition. Saunders et al., 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136)
Sources: Literature, Expert list, Other
Mendeliome v0.9469 NYX Zornitza Stark Publications for gene: NYX were set to
Mendeliome v0.9468 NYX Zornitza Stark Mode of inheritance for gene: NYX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9467 NYX Zornitza Stark reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9467 ACTC1 Krithika Murali gene: ACTC1 was added
gene: ACTC1 was added to Mendeliome. Sources: Literature,Expert list
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 17947298; 31430208
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 - MIM# 612794; Cardiomyopathy, dilated, 1R - MIM# 613424; Cardiomyopathy, hypertrophic, 11 - #612098; Left ventricular noncompaction 4 - #613424
Review for gene: ACTC1 was set to GREEN
Added comment: Three families reported with congenital heart disease and variants in this gene. Gene is also associated with cardiomyopathies, including paediatric onset.
Sources: Literature, Expert list
Mendeliome v0.9467 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Mendeliome v0.9467 GRM6 Zornitza Stark Phenotypes for gene: GRM6 were changed from to Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270
Mendeliome v0.9466 GRM6 Zornitza Stark Publications for gene: GRM6 were set to
Mendeliome v0.9465 GRM6 Zornitza Stark Mode of inheritance for gene: GRM6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9464 GRM6 Zornitza Stark reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9464 GRK1 Zornitza Stark Gene: grk1 has been classified as Green List (High Evidence).
Mendeliome v0.9464 GRK1 Zornitza Stark Phenotypes for gene: GRK1 were changed from to Oguchi disease-2, 613411
Mendeliome v0.9463 GRK1 Zornitza Stark Publications for gene: GRK1 were set to
Mendeliome v0.9462 GRK1 Zornitza Stark Mode of inheritance for gene: GRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9461 GRK1 Zornitza Stark reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17070587, 33252155; Phenotypes: Oguchi disease-2, 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9461 GPR179 Zornitza Stark Gene: gpr179 has been classified as Green List (High Evidence).
Mendeliome v0.9461 GPR179 Zornitza Stark Phenotypes for gene: GPR179 were changed from to Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565)
Mendeliome v0.9460 GPR179 Zornitza Stark Publications for gene: GPR179 were set to
Mendeliome v0.9459 GPR179 Zornitza Stark Mode of inheritance for gene: GPR179 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9458 GPR179 Zornitza Stark reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9458 GNAT2 Zornitza Stark Marked gene: GNAT2 as ready
Mendeliome v0.9458 GNAT2 Zornitza Stark Gene: gnat2 has been classified as Green List (High Evidence).
Mendeliome v0.9458 GNAT2 Zornitza Stark Phenotypes for gene: GNAT2 were changed from to Achromatopsia 4, MIM#613856
Mendeliome v0.9457 GNAT2 Zornitza Stark Publications for gene: GNAT2 were set to
Mendeliome v0.9456 GNAT2 Zornitza Stark Mode of inheritance for gene: GNAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9455 GNAT2 Zornitza Stark reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32203983, 17251445; Phenotypes: Achromatopsia 4 MIM#613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9455 XBP1 Lucy Spencer reviewed gene: XBP1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32294597, 33325615; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9455 DEF6 Zornitza Stark Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity
Mendeliome v0.9454 DEF6 Zornitza Stark Publications for gene: DEF6 were set to 31308374
Mendeliome v0.9453 DEF6 Zornitza Stark Classified gene: DEF6 as Green List (high evidence)
Mendeliome v0.9453 DEF6 Zornitza Stark Gene: def6 has been classified as Green List (High Evidence).
Mendeliome v0.9452 DEF6 Zornitza Stark edited their review of gene: DEF6: Added comment: Additional family reported with 4 affected siblings.; Changed rating: GREEN; Changed publications: 31308374, 32562707; Changed phenotypes: Immunodeficiency 87 and autoimmunity, MIM# 619573, Systemic autoimmunity
Mendeliome v0.9452 CABP4 Zornitza Stark Gene: cabp4 has been classified as Green List (High Evidence).
Mendeliome v0.9452 CABP4 Zornitza Stark Phenotypes for gene: CABP4 were changed from to Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427
Mendeliome v0.9451 CABP4 Zornitza Stark Publications for gene: CABP4 were set to
Mendeliome v0.9450 CABP4 Zornitza Stark Mode of inheritance for gene: CABP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9449 CABP4 Zornitza Stark reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9449 ATF6 Zornitza Stark Marked gene: ATF6 as ready
Mendeliome v0.9449 ATF6 Zornitza Stark Gene: atf6 has been classified as Green List (High Evidence).
Mendeliome v0.9449 ATF6 Zornitza Stark Phenotypes for gene: ATF6 were changed from to Achromatopsia 7, MIM#616517
Mendeliome v0.9448 ATF6 Zornitza Stark Publications for gene: ATF6 were set to
Mendeliome v0.9447 ATF6 Zornitza Stark Mode of inheritance for gene: ATF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9446 ATF6 Zornitza Stark reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM#616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9446 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Green List (High Evidence).
Mendeliome v0.9446 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from to Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393
Mendeliome v0.9445 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Mendeliome v0.9444 AIPL1 Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9443 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9443 GNAS-AS1 Zornitza Stark Tag SV/CNV tag was added to gene: GNAS-AS1.
Mendeliome v0.9443 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Mendeliome v0.9443 GNAS-AS1 Zornitza Stark Phenotypes for gene: GNAS-AS1 were changed from to Pseudohypoparathyroidism type 1b MIM no: 603233
Mendeliome v0.9442 GNAS-AS1 Zornitza Stark Publications for gene: GNAS-AS1 were set to
Mendeliome v0.9441 GNAS-AS1 Zornitza Stark Mode of inheritance for gene: GNAS-AS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.9440 GNAS-AS1 Zornitza Stark Classified gene: GNAS-AS1 as Red List (low evidence)
Mendeliome v0.9440 GNAS-AS1 Zornitza Stark Gene: gnas-as1 has been classified as Red List (Low Evidence).
Mendeliome v0.9439 GNAS-AS1 Zornitza Stark reviewed gene: GNAS-AS1: Rating: RED; Mode of pathogenicity: None; Publications: 22378814, 15592469, 29959430, 25005734; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.9439 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585
Mendeliome v0.9438 IFT74 Zornitza Stark Publications for gene: IFT74 were set to 27486776; 32144365; 33531668
Mendeliome v0.9437 IFT74 Zornitza Stark edited their review of gene: IFT74: Added comment: Limited evidence for association with spermatogenic failure: two unrelated individuals with same homozygous missense variant.; Changed publications: 27486776, 32144365, 33531668, 33689014; Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome, Spermatogenic failure 58, MIM# 619585
Mendeliome v0.9437 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Mendeliome v0.9437 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Mendeliome v0.9437 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Mendeliome v0.9436 SFTPC Zornitza Stark Publications for gene: SFTPC were set to
Mendeliome v0.9435 SFTPC Zornitza Stark Mode of inheritance for gene: SFTPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9434 SFTPC Zornitza Stark reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11207353, 11991887, 11893657, 15557112, 19443464; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9434 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Mendeliome v0.9434 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Mendeliome v0.9434 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Mendeliome v0.9433 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Mendeliome v0.9432 SFTPB Zornitza Stark Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9431 SFTPB Zornitza Stark reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8163685, 8021783, 10378403, 10571948; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9431 SFTPA2 Zornitza Stark Marked gene: SFTPA2 as ready
Mendeliome v0.9431 SFTPA2 Zornitza Stark Gene: sftpa2 has been classified as Green List (High Evidence).
Mendeliome v0.9431 SFTPA2 Zornitza Stark Phenotypes for gene: SFTPA2 were changed from to Pulmonary fibrosis, idiopathic, MIM# 178500
Mendeliome v0.9430 SFTPA2 Zornitza Stark Publications for gene: SFTPA2 were set to
Mendeliome v0.9429 SFTPA2 Zornitza Stark Mode of inheritance for gene: SFTPA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9428 SFTPA2 Zornitza Stark reviewed gene: SFTPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19100526, 32602668; Phenotypes: Pulmonary fibrosis, idiopathic, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9428 SFTPD Zornitza Stark Marked gene: SFTPD as ready
Mendeliome v0.9428 SFTPD Zornitza Stark Gene: sftpd has been classified as Red List (Low Evidence).
Mendeliome v0.9428 SFTPD Zornitza Stark Phenotypes for gene: SFTPD were changed from to Interstitial lung disease
Mendeliome v0.9427 SFTPD Zornitza Stark Publications for gene: SFTPD were set to
Mendeliome v0.9426 SFTPD Zornitza Stark Classified gene: SFTPD as Red List (low evidence)
Mendeliome v0.9426 SFTPD Zornitza Stark Gene: sftpd has been classified as Red List (Low Evidence).
Mendeliome v0.9425 SFTPD Zornitza Stark reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: 9751757; Phenotypes: Interstitial lung disease; Mode of inheritance: None
Mendeliome v0.9425 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Mendeliome v0.9425 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Mendeliome v0.9424 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Mendeliome v0.9423 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9422 SLC7A7 Zornitza Stark reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10080182, 18716612; Phenotypes: Lysinuric protein intolerance, MIM# 222700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9422 JAG2 Zornitza Stark Phenotypes for gene: JAG2 were changed from muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; muscular dystrophy
Mendeliome v0.9421 JAG2 Zornitza Stark reviewed gene: JAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9421 STX16 Zornitza Stark Marked gene: STX16 as ready
Mendeliome v0.9421 STX16 Zornitza Stark Gene: stx16 has been classified as Green List (High Evidence).
Mendeliome v0.9421 STX16 Zornitza Stark Phenotypes for gene: STX16 were changed from to Pseudohypoparathyroidism type 1b MIM#: 603233
Mendeliome v0.9420 STX16 Zornitza Stark Publications for gene: STX16 were set to
Mendeliome v0.9419 STX16 Zornitza Stark Mode of inheritance for gene: STX16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.9418 STX16 Zornitza Stark reviewed gene: STX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 1456170, 15579741, 15800843, 33320452, 32337648, 33247854, 29959430; Phenotypes: Pseudohypoparathyroidism type 1b MIM no: 603233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.9418 TAOK1 Zornitza Stark Phenotypes for gene: TAOK1 were changed from TAOK1-related neurodevelopmental disorder to Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575; TAOK1-related neurodevelopmental disorder
Mendeliome v0.9417 TAOK1 Zornitza Stark edited their review of gene: TAOK1: Changed phenotypes: Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575, TAOK1-related neurodevelopmental disorder
Mendeliome v0.9417 STOX1 Zornitza Stark Marked gene: STOX1 as ready
Mendeliome v0.9417 STOX1 Zornitza Stark Gene: stox1 has been classified as Red List (Low Evidence).
Mendeliome v0.9417 STOX1 Zornitza Stark Phenotypes for gene: STOX1 were changed from to Preeclampsia/eclampsia 4 (MIM#609404)
Mendeliome v0.9416 STOX1 Zornitza Stark Publications for gene: STOX1 were set to
Mendeliome v0.9415 STOX1 Zornitza Stark Classified gene: STOX1 as Red List (low evidence)
Mendeliome v0.9415 STOX1 Zornitza Stark Gene: stox1 has been classified as Red List (Low Evidence).
Mendeliome v0.9414 CHRNA5 Zornitza Stark Gene: chrna5 has been classified as Red List (Low Evidence).
Mendeliome v0.9414 CHRNA5 Zornitza Stark Phenotypes for gene: CHRNA5 were changed from to Lung cancer susceptibility 2 (MIM#612052); Nicotine dependence, susceptibility to (MIM#612052)
Mendeliome v0.9413 CHRNA5 Zornitza Stark Classified gene: CHRNA5 as Red List (low evidence)
Mendeliome v0.9413 CHRNA5 Zornitza Stark Gene: chrna5 has been classified as Red List (Low Evidence).
Mendeliome v0.9412 TBX4 Zornitza Stark edited their review of gene: TBX4: Changed publications: 31761294, 31965066; Changed phenotypes: Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891, Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
Mendeliome v0.9412 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Mendeliome v0.9412 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Mendeliome v0.9412 ZNHIT3 Zornitza Stark Phenotypes for gene: ZNHIT3 were changed from to PEHO syndrome, MIM# 260565
Mendeliome v0.9411 ZNHIT3 Zornitza Stark Publications for gene: ZNHIT3 were set to
Mendeliome v0.9410 ZNHIT3 Zornitza Stark Mode of inheritance for gene: ZNHIT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9409 ZNHIT3 Zornitza Stark Tag founder tag was added to gene: ZNHIT3.
Mendeliome v0.9409 ZNHIT3 Zornitza Stark reviewed gene: ZNHIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28335020, 28335020, 31048081; Phenotypes: PEHO syndrome, MIM# 260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9409 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Mendeliome v0.9409 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854
Mendeliome v0.9408 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Mendeliome v0.9407 ADGRG1 Zornitza Stark Mode of inheritance for gene: ADGRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9406 ADGRG1 Zornitza Stark Tag 5'UTR tag was added to gene: ADGRG1.
Mendeliome v0.9406 ADGRG1 Zornitza Stark reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240336, 33299078; Phenotypes: Polymicrogyria, bilateral frontoparietal, MIM#606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9406 CHRNA5 Paul De Fazio reviewed gene: CHRNA5: Rating: RED; Mode of pathogenicity: None; Publications: 20643934, 18385676; Phenotypes: Lung cancer susceptibility 2 (MIM#612052), Nicotine dependence, susceptibility to (MIM#612052); Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9406 STOX1 Paul De Fazio reviewed gene: STOX1: Rating: RED; Mode of pathogenicity: None; Publications: 15806103, 17290274, 30548667, 33301424; Phenotypes: Preeclampsia/eclampsia 4 (MIM#609404); Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9406 FGF12 Zornitza Stark Gene: fgf12 has been classified as Green List (High Evidence).
Mendeliome v0.9406 FGF12 Zornitza Stark Phenotypes for gene: FGF12 were changed from to Developmental and epileptic encephalopathy 47, MIM# 617166
Mendeliome v0.9405 FGF12 Zornitza Stark Publications for gene: FGF12 were set to
Mendeliome v0.9404 FGF12 Zornitza Stark Mode of inheritance for gene: FGF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9403 FGF12 Zornitza Stark reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32645220, 27164707, 27830185, 27872899; Phenotypes: Developmental and epileptic encephalopathy 47, MIM# 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9403 KCNAB3 Zornitza Stark Gene: kcnab3 has been classified as Red List (Low Evidence).
Mendeliome v0.9403 KCNAB3 Zornitza Stark Classified gene: KCNAB3 as Red List (low evidence)
Mendeliome v0.9403 KCNAB3 Zornitza Stark Gene: kcnab3 has been classified as Red List (Low Evidence).
Mendeliome v0.9402 TBK1 Zornitza Stark Marked gene: TBK1 as ready
Mendeliome v0.9402 TBK1 Zornitza Stark Gene: tbk1 has been classified as Green List (High Evidence).
Mendeliome v0.9402 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM# 616439
Mendeliome v0.9401 TBK1 Zornitza Stark Publications for gene: TBK1 were set to
Mendeliome v0.9400 TBK1 Zornitza Stark Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9399 OSTC Zornitza Stark Marked gene: OSTC as ready
Mendeliome v0.9399 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Mendeliome v0.9399 OSTC Zornitza Stark Classified gene: OSTC as Red List (low evidence)
Mendeliome v0.9399 OSTC Zornitza Stark Gene: ostc has been classified as Red List (Low Evidence).
Mendeliome v0.9398 KCNC2 Zornitza Stark Gene: kcnc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9398 KCNC2 Zornitza Stark Publications for gene: KCNC2 were set to PMID:32392612; 31972370
Mendeliome v0.9397 KCNC2 Zornitza Stark Classified gene: KCNC2 as Amber List (moderate evidence)
Mendeliome v0.9397 KCNC2 Zornitza Stark Gene: kcnc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9396 KCTD13 Zornitza Stark Marked gene: KCTD13 as ready
Mendeliome v0.9396 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Mendeliome v0.9396 KCTD13 Zornitza Stark Phenotypes for gene: KCTD13 were changed from to Intellectual disability; seizures
Mendeliome v0.9395 KCTD13 Zornitza Stark Publications for gene: KCTD13 were set to PMID: 33409479
Mendeliome v0.9394 KCTD13 Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Mendeliome v0.9393 KCTD13 Zornitza Stark Classified gene: KCTD13 as Red List (low evidence)
Mendeliome v0.9393 KCTD13 Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence).
Mendeliome v0.9392 KCTD13 Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9392 KCTD13 Daniel Flanagan gene: KCTD13 was added
gene: KCTD13 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCTD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCTD13 were set to PMID: 33409479
Review for gene: KCTD13 was set to RED
Added comment: Mouse model and in vitro evidence suggesting the deletion of KCTD13 has a similar metabolic affect as adenylosuccinate lyase deficiency, which has seizures and autistic features.
Sources: Expert list
Mendeliome v0.9392 KCNC2 Daniel Flanagan gene: KCNC2 was added
gene: KCNC2 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNC2 were set to PMID:32392612; 31972370
Phenotypes for gene: KCNC2 were set to epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome
Review for gene: KCNC2 was set to AMBER
Added comment: PMID: 31972370. De novo missense variant (p.Val471Leu) identified in a child with early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks.

PMID: 32392612. De novo missense variant (p.Asp167Tyr) identified in a neurofibromatosis type 1 related West syndrome patient. Functional analysis showed a significant reduction of the mean potassium current and a shift in the voltage dependence of steady-state activation. Maternally inherited NF1 variant (p.T1951Nfs*5) also identified, the mother was "clinically unremarkable".
Sources: Expert list
Mendeliome v0.9392 OSTC Belinda Chong gene: OSTC was added
gene: OSTC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSTC were set to PMID: 32267060
Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation
Review for gene: OSTC was set to RED
Added comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.
Patient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.
GnomAD - 10 hets, 0 hom
Sources: Literature
Sources: Literature
Mendeliome v0.9392 TBK1 Lucy Spencer reviewed gene: TBK1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31000212, 25943890; Phenotypes: Frontotemporal dementia, amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9392 KCNAB3 Daniel Flanagan gene: KCNAB3 was added
gene: KCNAB3 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: KCNAB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNAB3 were set to PMID: 32990398
Phenotypes for gene: KCNAB3 were set to febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus
Review for gene: KCNAB3 was set to RED
Added comment: Missense variant identified in a single Han Chinese family with febrile seizures plus. Three affected carriers and one unaffected carrier. Patch clamp functional studies indicates that the variant accelerates the inactivation of the potassium channels.
Sources: Expert list
Mendeliome v0.9392 DENND5A Zornitza Stark Gene: dennd5a has been classified as Green List (High Evidence).
Mendeliome v0.9392 DENND5A Zornitza Stark Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281
Mendeliome v0.9391 DENND5A Zornitza Stark Publications for gene: DENND5A were set to
Mendeliome v0.9390 DENND5A Zornitza Stark Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9389 DENND5A Zornitza Stark reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9389 ZAR1 Zornitza Stark Gene: zar1 has been classified as Red List (Low Evidence).
Mendeliome v0.9389 ZAR1 Zornitza Stark gene: ZAR1 was added
gene: ZAR1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ZAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZAR1 were set to 29574422; 31598710; 12539046
Phenotypes for gene: ZAR1 were set to Multi locus imprinting disturbance in offspring
Review for gene: ZAR1 was set to RED
Added comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) with some features of Beckwith Wiedemann Syndrome. Shown to be a maternal effect gene that functions at the oocyte to embryo transition.
Sources: Expert Review
Mendeliome v0.9388 UHRF1 Zornitza Stark Gene: uhrf1 has been classified as Red List (Low Evidence).
Mendeliome v0.9388 UHRF1 Zornitza Stark gene: UHRF1 was added
gene: UHRF1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UHRF1 were set to 29574422; 28976982
Phenotypes for gene: UHRF1 were set to Multi locus imprinting disturbance in offspring
Review for gene: UHRF1 was set to RED
Added comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and Silver Russell Syndrome phenotype. Maenohara et al demonstrate functions of UHRF1 during the global epigenetic reprogramming of oocytes and early embryos.
Sources: Expert Review
Mendeliome v0.9387 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Mendeliome v0.9387 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from to Schaaf-Yang syndrome, MIM# 615547
Mendeliome v0.9386 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to
Mendeliome v0.9385 MAGEL2 Zornitza Stark Mode of inheritance for gene: MAGEL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.9384 MAGEL2 Zornitza Stark reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076603, 31397880, 29599419, 30302899; Phenotypes: Schaaf-Yang syndrome, MIM# 615547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Mendeliome v0.9384 L3MBTL1 Zornitza Stark Marked gene: L3MBTL1 as ready
Mendeliome v0.9384 L3MBTL1 Zornitza Stark Gene: l3mbtl1 has been classified as Red List (Low Evidence).
Mendeliome v0.9384 L3MBTL1 Zornitza Stark gene: L3MBTL1 was added
gene: L3MBTL1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: L3MBTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: L3MBTL1 were set to 23543057; 15123827; 30794780
Phenotypes for gene: L3MBTL1 were set to Affected tissue: myeloid lineages; Phenotype resulting from under expression: lymphoid malignancy
Review for gene: L3MBTL1 was set to RED
Added comment: Germline variation in this imprinted gene is not currently associated with disease.

Somatic deletions of 20q are associated with chronic myeloid malignancies. Aziz et al showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes L3MBTL1 and SGK2, indicative of a pathogenetic role for loss of the active paternally inherited locus. Concomitant loss of both L3MBTL1 and SGK2 dysregulated erythropoiesis and megakaryopoiesis.
Sources: Expert Review
Mendeliome v0.9383 KCNQ1OT1 Zornitza Stark Marked gene: KCNQ1OT1 as ready
Mendeliome v0.9383 KCNQ1OT1 Zornitza Stark Gene: kcnq1ot1 has been classified as Red List (Low Evidence).
Mendeliome v0.9383 KCNQ1OT1 Zornitza Stark gene: KCNQ1OT1 was added
gene: KCNQ1OT1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KCNQ1OT1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: KCNQ1OT1 were set to 22205991; 15372379; 23511928; 30794780; 29377879; 10220444; 32447323; 33177595; 29047350
Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome OMIM:130650; Russell-Silver Syndrome
Review for gene: KCNQ1OT1 was set to AMBER
Added comment: Limited evidence that isolated intragenic variation in KCNQ1OT1 is definitively associated with a phenotype.

KCNQ1OT1 encodes the regulatory antisense non-coding RNA KCNQ1OT1 (KCNQ1 overlapping) and is located within the KCNQ1OT1:TSS DMR (imprinting control region 2; IC2) at 11p15.5. IC2 is located within KCNQ1 intron 10. KCNQ1OT1 is maternally imprinted and paternally expressed. On the paternal chromosome, KCNQ1OT1 is transcribed and represses in cis the flanking imprinted genes, including the growth inhibitor CDKN1C, which is normally transcribed from the maternal allele. In 50% of the BWS patients, loss of methylation (LOM) of IC2 leads to biallelic expression of KCNQ1OT1 and biallelic silencing of CDKN1C (PMID 30635621). Expression is increased in BWS due to IC2 epimutations or paternal UPD.

Single nucleotide variants within KCNQ1OT1 have not been definitively associated with human disease. A heterozygous maternally inherited non-coding variant was identified in an individual with isolated omphalocele. This variant was shown to alter the methylation pattern of the imprinted allele (PMID 29047350).

Eggerman et al (PMID 32447323) described a 132 base pair deletion within KCNQ1OT1 associated with growth retardation in the case of paternal but not maternal transmission. This intragenic deletion did not affect IC2 methylation.

Microdeletions of IC2 involving KCNQ1OT1 on the paternal allele have been identified in a small number of patients with Russell-Silver syndrome. Similarly, microdeletions of IC2 involving KCNQ1OT1 on the maternal allele have been identified in a small number of patients with BWS. These deletions also variably involve KCNQ1 or CDKN1C. LoF in CDKN1C is a known cause of BWS. There is some evidence to suggest that disruption of KCNQ1 prevents maternal methylation at IC2 (PMID 30778172).
Sources: Expert Review
Mendeliome v0.9382 H19 Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence).
Mendeliome v0.9382 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: H19 were set to 20007505; 15743916; 23118352; 21863054; 21571108; 18245780; 24916376; 25943194
Phenotypes for gene: H19 were set to Phenotypes resulting from gene over expression: Silver-Russell Syndrome (proven effects of dosage alteration rather than gene muation); Affected tissue: all; Phenotype resulting from under expression: Beckwith-Wiedemann Syndrome
Review for gene: H19 was set to RED
Added comment: Methylation changes rather than sequence variation are associated with BWS/RSS.
Sources: Expert Review
Mendeliome v0.9381 GBF1 Zornitza Stark Phenotypes for gene: GBF1 were changed from Axonal Neuropathy to Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Axonal Neuropathy
Mendeliome v0.9380 GBF1 Zornitza Stark reviewed gene: GBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate A, MIM# 606483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9380 TMEM218 Zornitza Stark Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Mendeliome v0.9379 TMEM218 Zornitza Stark reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 39, MIM#619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9379 OOEP Zornitza Stark Gene: ooep has been classified as Red List (Low Evidence).
Mendeliome v0.9379 OOEP Zornitza Stark gene: OOEP was added
gene: OOEP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OOEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OOEP were set to 29574422
Phenotypes for gene: OOEP were set to Multi locus imprinting disturbance in offspring
Review for gene: OOEP was set to RED
Added comment: Single report of biallelic variants in this gene in a mother of a child with Multi locus imprinting disturbance (MLID) and a transient neonatal diabetes mellitus phenotype.

This gene encodes part of the subcortical maternal complex (SCMC). Other genes in this group act as 'maternal effect' genes and are associated with early embryonic arrest, recurrent hydatiform mole and MLID in offspring.

As is the case for other genes encoding components of the SCMC, the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.
Sources: Literature
Mendeliome v0.9378 ZNF445 Zornitza Stark Gene: znf445 has been classified as Red List (Low Evidence).
Mendeliome v0.9378 ZNF445 Zornitza Stark gene: ZNF445 was added
gene: ZNF445 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ZNF445 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF445 were set to 34039421; 30602440; 30846001
Phenotypes for gene: ZNF445 were set to Temple syndrome; Multi locus imprinting disturbance (MLID)
Review for gene: ZNF445 was set to RED
Added comment: Single report (Kagami 2021) of a child with Temple syndrome and MLID found to have a novel homozygous truncating variant in ZNF445.

ZNF445 has been shown to play a critical role in the maintenance of postfertilisation methylation imprints (Takahashi 2019). Mechanism and parent of origin effects remain uncertain.
Sources: Literature
Mendeliome v0.9377 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Mendeliome v0.9377 NSRP1 Zornitza Stark Classified gene: NSRP1 as Green List (high evidence)
Mendeliome v0.9377 NSRP1 Zornitza Stark Gene: nsrp1 has been classified as Green List (High Evidence).
Mendeliome v0.9376 NSRP1 Zornitza Stark gene: NSRP1 was added
gene: NSRP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Epilepsy; Cerebral palsy; microcephaly; Intellectual disability
Review for gene: NSRP1 was set to GREEN
Added comment: Novel gene regulating splicing. Biallelic LoF pathogenic variants reported in 6 individuals from 3 unrelated families associated with a phenotype characterized by developmental delay, epilepsy, microcephaly, and spastic cerebral palsy.
Sources: Literature
Mendeliome v0.9375 ERGIC1 Zornitza Stark Publications for gene: ERGIC1 were set to 28317099; 34037256
Mendeliome v0.9374 ERGIC1 Zornitza Stark Classified gene: ERGIC1 as Green List (high evidence)
Mendeliome v0.9374 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Green List (High Evidence).
Mendeliome v0.9373 ERGIC1 Zornitza Stark edited their review of gene: ERGIC1: Added comment: Pehlivan et al. 2019 (PMID:31230720) identified the third case of arthrogryposis in a child who harboured a previously unreported homozygous variant (c.782G>A; p.Gly261Asp) in this gene. Parents were heterozygous carriers. Functional studies were not performed.; Changed rating: GREEN; Changed publications: 28317099, 34037256, 31230720
Mendeliome v0.9373 GABRD Zornitza Stark Phenotypes for gene: GABRD were changed from Susceptibility to epilepsy, MIM#613060 to Susceptibility to epilepsy, MIM#613060
Mendeliome v0.9372 GABRD Zornitza Stark Publications for gene: GABRD were set to 15115768
Mendeliome v0.9371 GABRD Zornitza Stark Classified gene: GABRD as Green List (high evidence)
Mendeliome v0.9371 GABRD Zornitza Stark Gene: gabrd has been classified as Green List (High Evidence).
Mendeliome v0.9370 GABRD Zornitza Stark changed review comment from: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.; to: Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.
Mendeliome v0.9370 GABRD Zornitza Stark edited their review of gene: GABRD: Added comment: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.; Changed rating: GREEN; Changed publications: 15115768, 34633442; Changed phenotypes: Intellectual disability, Epilepsy, Susceptibility to epilepsy, MIM#613060
Mendeliome v0.9370 NLRP5 Zornitza Stark Phenotypes for gene: NLRP5 were changed from Early embryonic arrest to Early embryonic arrest; Multi locus imprinting disturbance in offspring
Mendeliome v0.9369 NLRP5 Zornitza Stark Publications for gene: NLRP5 were set to 32222962; 31829238; 30877238
Mendeliome v0.9368 NLRP5 Zornitza Stark Mode of inheritance for gene: NLRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9367 NLRP5 Zornitza Stark Classified gene: NLRP5 as Green List (high evidence)
Mendeliome v0.9367 NLRP5 Zornitza Stark Gene: nlrp5 has been classified as Green List (High Evidence).
Mendeliome v0.9366 NLRP5 Zornitza Stark edited their review of gene: NLRP5: Added comment: 'Maternal effect gene'
Part of the subcortical maternal complex

Report of five mothers carrying either monoallelic or biallelic variants in NLRP5, who had both unaffected offspring and offspring with BWS-MLID (Doherty 2015). Report of one family where the mother carried biallelic variants in NLRP5, had one offspring with BWS, one unaffected offspring and multiple miscarriages (Sparago 2019).

Reports of at least three unrelated individuals with recurrent early embryonic arrest carrying biallelic variants in NLRP5. Functional work suggesting protein degradation in affected human cell lines (Mu 2019, Xu 2020).; Changed rating: GREEN; Changed publications: 32222962, 31829238, 30877238, 26323243, 34440388; Changed phenotypes: Early embryonic arrest, Multi locus imprinting disturbance in offspring; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9366 TNPO2 Zornitza Stark Phenotypes for gene: TNPO2 were changed from Intellectual disability, neurologic deficits and dysmorphic features to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556
Mendeliome v0.9365 TNPO2 Zornitza Stark reviewed gene: TNPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556; Mode of inheritance: None
Mendeliome v0.9365 DSTYK Zornitza Stark changed review comment from: Mono-allelic variants and CAKUT: Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract. Established gene-disease association.

Bi-allelic variants and HSP: Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect.; to: Mono-allelic variants and CAKUT: Multiple families reported, zebrafish model has multiple congenital anomalies including of the GU tract. Disputed gene-disease association as original variants present at relatively high pop frequency as per review by Ain Roesley.

Bi-allelic variants and HSP: Three families reported, but all had same intragenic deletion/insertion, suggestive of founder effect.
Mendeliome v0.9365 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9365 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9364 DSTYK Ain Roesley reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 23862974; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805, Spastic paraplegia 23, MIM# 270750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9364 KCTD3 Zornitza Stark Marked gene: KCTD3 as ready
Mendeliome v0.9364 KCTD3 Zornitza Stark Gene: kctd3 has been classified as Green List (High Evidence).
Mendeliome v0.9364 KCTD3 Zornitza Stark Phenotypes for gene: KCTD3 were changed from to Epilepsy; Intellectual disability; Posterior fossa abnormalities
Mendeliome v0.9363 KCTD3 Zornitza Stark Publications for gene: KCTD3 were set to
Mendeliome v0.9362 KCTD3 Zornitza Stark Mode of inheritance for gene: KCTD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9361 KCTD3 Zornitza Stark reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29406573; Phenotypes: Epilepsy, Intellectual disability, Posterior fossa abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9361 GYPC Zornitza Stark Gene: gypc has been classified as Red List (Low Evidence).
Mendeliome v0.9361 GYPC Zornitza Stark Phenotypes for gene: GYPC were changed from to [Blood group, Gerbich] MIM#616089
Mendeliome v0.9360 GYPC Zornitza Stark Publications for gene: GYPC were set to
Mendeliome v0.9359 GYPC Zornitza Stark Mode of inheritance for gene: GYPC was changed from Unknown to Other
Mendeliome v0.9358 GYPC Zornitza Stark Classified gene: GYPC as Red List (low evidence)
Mendeliome v0.9358 GYPC Zornitza Stark Gene: gypc has been classified as Red List (Low Evidence).
Mendeliome v0.9357 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336; 33153448
Mendeliome v0.9356 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Mendeliome v0.9356 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Mendeliome v0.9355 GYPC Paul De Fazio reviewed gene: GYPC: Rating: RED; Mode of pathogenicity: None; Publications: 29469208; Phenotypes: [Blood group, Gerbich] MIM#616089; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.9355 TARS2 Krithika Murali reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9355 SLC4A3 Daniel Flanagan gene: SLC4A3 was added
gene: SLC4A3 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911
Phenotypes for gene: SLC4A3 were set to Short QT syndrome
Review for gene: SLC4A3 was set to AMBER
Added comment: Moderate evidence for autosomal dominant short QT syndrome 1 by ClinGen /gene curation expert panel (PMID: 34557911). A single missense variant (absent gnomAD) identified in two SQTS families. In family 1, it segregated with SQTS (QTc<370ms) in 23 carriers, and 19 non-carriers had a QTc>370ms. In family 2, it segregated in 4 individuals. Experimental evidence from in vitro and zebrafish models suggests reduced membrane localization of the mutated protein leads to intracellular alkalinization and shortening of the cardiomyocyte action potential duration.
ClinGen expert panel was divided between strong (4 votes) and moderate (5 votes).
Sources: Expert Review
Mendeliome v0.9355 USP48 Zornitza Stark Added comment: Comment when marking as ready: Borderline Green: one of the variants is present at a high frequency in the normal population. However, even if just two families are considered, supportive functional data including zebrafish model.
Mendeliome v0.9355 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Mendeliome v0.9355 USP48 Zornitza Stark Classified gene: USP48 as Green List (high evidence)
Mendeliome v0.9355 USP48 Zornitza Stark Gene: usp48 has been classified as Green List (High Evidence).
Mendeliome v0.9354 MARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved gene name is MARS1.
Mendeliome v0.9354 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Mendeliome v0.9354 MARS Zornitza Stark Tag new gene name tag was added to gene: MARS.
Mendeliome v0.9354 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Mendeliome v0.9354 MARS Zornitza Stark Phenotypes for gene: MARS were changed from to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy, MONDO:0018053
Mendeliome v0.9353 MARS Zornitza Stark Publications for gene: MARS were set to
Mendeliome v0.9352 MARS Zornitza Stark Mode of inheritance for gene: MARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9351 MARS Zornitza Stark changed review comment from: Association with CMT: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.; to: Association with CMT and mono-allelic variants: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.
Mendeliome v0.9351 MARS Zornitza Stark changed review comment from: Association with interstitial lung and liver disease: More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.; to: Association with interstitial lung and liver disease and bi-allelic variants: More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.
Mendeliome v0.9351 MARS Zornitza Stark changed review comment from: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.; to: Association with CMT: Two families reported. One mutation positive family member was asymptomatic. Second case is proband only testing with no segregation or functional data. Note one of the variants identified in dominant MARS1-associated neuropathy, p.Arg618Cys, has also been reported in AR MARS1-related pulmonary interstiatial/liver disease.
Mendeliome v0.9351 MARS Zornitza Stark edited their review of gene: MARS: Added comment: Association with interstitial lung and liver disease: More than 5 unrelated families reported. Founder variants in Reunion Island, p.Ser567Leu and p.Ala393Thr, in cis.

Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis.; Changed rating: GREEN; Changed publications: 23729695, 24354524, 29655802, 24103465, 25913036; Changed phenotypes: Interstitial lung and liver disease, MIM#615486, Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9351 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053
Mendeliome v0.9350 AARS Zornitza Stark Publications for gene: AARS were set to 28493438; 25817015; 20045102; 22009580; 22206013; 30373780; 26032230
Mendeliome v0.9349 CELF2 Zornitza Stark Phenotypes for gene: CELF2 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 97, MIM#619561
Mendeliome v0.9348 CELF2 Zornitza Stark edited their review of gene: CELF2: Changed phenotypes: Developmental and epileptic encephalopathy 97, MIM#619561
Mendeliome v0.9348 SPPL2A Zornitza Stark Phenotypes for gene: SPPL2A were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency 86, MIM#619549; Susceptibility to mycobacteria and Salmonella
Mendeliome v0.9347 SPPL2A Zornitza Stark edited their review of gene: SPPL2A: Changed phenotypes: Immunodeficiency 86, MIM#619549, Susceptibility to mycobacteria and Salmonella
Mendeliome v0.9347 USP48 Eleanor Williams gene: USP48 was added
gene: USP48 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: USP48 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: USP48 were set to 34059922
Phenotypes for gene: USP48 were set to non-syndromic hearing loss; nonsyndromic genetic deafness, MONDO:0019497
Penetrance for gene: USP48 were set to Incomplete
Review for gene: USP48 was set to GREEN
Added comment: PMID: 34059922 - Bassani et al 2021 - 3 cases reported with variants in USP48 and non syndromic hearing loss. They first analysed 4-generation Italian family with 6 individuals with hearing loss. The only rare variant segregating with the disease was a missense variant in USP48 (NM_032234.7:c.1216G > A, NP_115612.4:p.(Gly406Arg)). The variant is present in GnomAD v2.1.1 with a minor allele frequency (MAF) of 6.7 × 10−5 (17 allele out of 251 304 with no homozygotes). They also observed one hearing individual in the family who was heterozygous for the variant, suggesting incomplete penetrance.
In a Dutch family the found by exome sequencing a missense variant in USP48 (NM_032236.7:c.2215_2216delinsTT, NP_115612.4:p.(Thr739Leu)). The probands mother and uncle were also affected by no sequence data was available for analysis.
In a French family a proband is reported with right profound sensorineural hearing impairment (at 12 months), but normal left hearing (at 6 years old). The patient is heterozygote for a de novo splice variant in USP48 (NM_032236.7:c.3058 + 2 T > C, NP_115612.4:p.?;) which is not found in GnomAD and is predicted to result in a frameshift resulting in either NMD or a truncated protein.
In functional experiments they showed that the two missense variants found in the Italian and Dutch families, and a shortened protein as predicted for the variant found in the French variant, showed an impaired ability to cleave tetra-ubiquitin into tri-, di- and mono-ubiquitin. Using immunohistology, they show that the human USP48 protein is present in fetal inner ear specimens.
In addition zebrafish lacking usp48 showed a significant decrease of auditory response in acoustic startle response assays at 600 and 800 Hz wavelengths.
Sources: Literature
Mendeliome v0.9347 MARS Eleanor Williams reviewed gene: MARS: Rating: ; Mode of pathogenicity: None; Publications: 33909043; Phenotypes: trichothiodystrophy, MONDO:0018053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9347 AARS Eleanor Williams changed review comment from: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB. Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family.; to: PMID: 33909043 - Botta et al 2021 - using WES or WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified 2 unrelated cases carrying 4 potentially pathogenic variants in the AARS1 gene (previously known as AARSB. Both patients had very rare compound heterozygous missense variants. In one family there was an older affected sibling but segregation data was not available for either family. Functional studies suggest that the variants affects gene product stability.
Mendeliome v0.9347 AARS Eleanor Williams reviewed gene: AARS: Rating: ; Mode of pathogenicity: None; Publications: 33909043; Phenotypes: trichothiodystrophy, MONDO:0018053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9347 AIP Zornitza Stark Gene: aip has been classified as Green List (High Evidence).
Mendeliome v0.9347 AIP Zornitza Stark Phenotypes for gene: AIP were changed from to Pituitary adenoma predisposition MIM#102200
Mendeliome v0.9346 AIP Zornitza Stark Publications for gene: AIP were set to
Mendeliome v0.9345 AIP Zornitza Stark Mode of inheritance for gene: AIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9344 TTC26 Zornitza Stark Phenotypes for gene: TTC26 were changed from Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations to Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534; Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Mendeliome v0.9343 TTC26 Zornitza Stark edited their review of gene: TTC26: Changed phenotypes: Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534, Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations
Mendeliome v0.9343 AP1G1 Zornitza Stark Phenotypes for gene: AP1G1 were changed from Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy to Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467; Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Neurodevelopmental disorder (NDD); Intellectual Disability; Epilepsy
Mendeliome v0.9342 AP1G1 Zornitza Stark edited their review of gene: AP1G1: Changed rating: GREEN; Changed phenotypes: Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467, Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9342 CERKL Zornitza Stark Publications for gene: CERKL were set to 33322828; 32865075; 32411380
Mendeliome v0.9341 CERKL Zornitza Stark edited their review of gene: CERKL: Changed publications: 33322828, 32865075, 32411380, 14681825, 24043777, 28838317, 27208204, 28130426
Mendeliome v0.9341 CERKL Zornitza Stark Gene: cerkl has been classified as Green List (High Evidence).
Mendeliome v0.9341 CERKL Zornitza Stark Phenotypes for gene: CERKL were changed from Retinitis pigmentosa 26, MIM# 608380 to Retinitis pigmentosa 26, MIM# 608380
Mendeliome v0.9341 CERKL Zornitza Stark Phenotypes for gene: CERKL were changed from to Retinitis pigmentosa 26, MIM# 608380
Mendeliome v0.9340 CERKL Zornitza Stark Publications for gene: CERKL were set to
Mendeliome v0.9339 CERKL Zornitza Stark Mode of inheritance for gene: CERKL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9338 CERKL Zornitza Stark reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33322828, 32865075, 32411380; Phenotypes: Retinitis pigmentosa 26, MIM# 608380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9338 AIP Paul De Fazio changed review comment from: Germline variants in AIP cause predisposition to pituitary adenomas which may result in acromegaly.

A 2015 cohort study of 143 patients with pituitary gigantism who consented to genetic testing found 29% had variants in AIP. Age at first symptoms was 9-13 years, age at diagnosis 14-20 years.; to: Germline variants in AIP cause predisposition to pituitary adenomas which may result in acromegaly.

A 2015 cohort study of 143 patients with pituitary gigantism who consented to genetic testing found 29% had variants in AIP. Age at first symptoms was 9-13 years, age at diagnosis 14-20 years.

Many patients have no family history, suggesting low penetrance.
Mendeliome v0.9338 AIP Paul De Fazio reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.9338 SHANK1 Zornitza Stark Gene: shank1 has been classified as Green List (High Evidence).
Mendeliome v0.9338 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from to Neurodevelopmental disorder, no OMIM#
Mendeliome v0.9337 SHANK1 Zornitza Stark Publications for gene: SHANK1 were set to
Mendeliome v0.9336 SHANK1 Zornitza Stark Mode of inheritance for gene: SHANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9335 SHANK1 Zornitza Stark reviewed gene: SHANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34113010, 22503632, 25188300; Phenotypes: Neurodevelopmental disorder, no OMIM#; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9335 GDF11 Zornitza Stark Classified gene: GDF11 as Green List (high evidence)
Mendeliome v0.9335 GDF11 Zornitza Stark Gene: gdf11 has been classified as Green List (High Evidence).
Mendeliome v0.9334 GDF11 Zornitza Stark edited their review of gene: GDF11: Added comment: Ravenscroft et al. (2021) report additional 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants.; Changed rating: GREEN; Changed publications: 31215115, 34113007
Mendeliome v0.9334 PLXNA1 Zornitza Stark Gene: plxna1 has been classified as Green List (High Evidence).
Mendeliome v0.9334 PLXNA1 Zornitza Stark Classified gene: PLXNA1 as Green List (high evidence)
Mendeliome v0.9334 PLXNA1 Zornitza Stark Gene: plxna1 has been classified as Green List (High Evidence).
Mendeliome v0.9333 PLXNA1 Zornitza Stark gene: PLXNA1 was added
gene: PLXNA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLXNA1 were set to 34054129
Phenotypes for gene: PLXNA1 were set to Neurodevelopmental disorder with cerebral and eye anomalies
Review for gene: PLXNA1 was set to GREEN
Added comment: Dworschak et al. (2021) via WES reported 10 patients from 7 families with biallelic (n=7) or de novo (n=3) PLXNA1 variants. Shared phenotypic features include global developmental delay (9/10), brain anomalies (6/10), and eye anomalies (7/10). Seizures were predominantly reported in patients with monoallelic variants. Zebrafish studies showed an embryonic role of plxna1a in the development of the central nervous system and the eye. Biallelic variants in the extracellular Plexin-A1 domains lead to impaired dimerization or lack of receptor molecules, whereas monoallelic variants in the intracellular Plexin-A1 domains might impair downstream signaling through a dominant-negative effect.
Sources: Literature
Mendeliome v0.9332 HNRNPD Zornitza Stark Phenotypes for gene: HNRNPD were changed from Developmental disorders to Neurodevelopmental disorder
Mendeliome v0.9331 HNRNPD Zornitza Stark Publications for gene: HNRNPD were set to 33057194
Mendeliome v0.9330 HNRNPD Zornitza Stark Classified gene: HNRNPD as Green List (high evidence)
Mendeliome v0.9330 HNRNPD Zornitza Stark Gene: hnrnpd has been classified as Green List (High Evidence).
Mendeliome v0.9329 HNRNPD Zornitza Stark reviewed gene: HNRNPD: Rating: GREEN; Mode of pathogenicity: None; Publications: 33874999; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9329 EHHADH Zornitza Stark Mode of inheritance for gene: EHHADH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9328 UNC13B Zornitza Stark Gene: unc13b has been classified as Red List (Low Evidence).
Mendeliome v0.9328 UNC13B Zornitza Stark gene: UNC13B was added
gene: UNC13B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: UNC13B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC13B were set to 33876820
Phenotypes for gene: UNC13B were set to Epilepsy
Review for gene: UNC13B was set to RED
Added comment: No OMIM human disease association. Gene encodes a presynaptic protein Munc13-2 highly expressed in the brain (predominantly cerebral cortex).

Variant interpretation data in human epilepsy cohort somewhat conflicting and restricted to a single study. Conflicting data esp regarding MOI, and evidence for pathogenicity of several of the variants is limited.

Wang et al, Brain, 2021 - trio-based whole-exome sequencing identified UNC13B in 12 individuals affected by partial epilepsy and/or febrile seizures from 8 unrelated families. Identified:
x1 de novo nonsense variant, absent in gnomad, damaging in silicos
x1 de novo splice site, absent in gnomad, damaging in silicos
x1 splice site variant present in unaffected mother (low frequency in gnomad)
x2 compound het in one individual - more severe phenotype postulated (x1 variant present in contro cohortl, the other variant present in low frequency in gnomad)
x1 missense variant - in Han Chinese major depressive disorders study, not in gnomad
x1 missense variant - highly conserved residue, not in gnomad
x2 other missense variant - highly conserved residue, low frequency in gnomad
Latter 4 missense variants cosegregated with affected individuals in the families

In Drosophila, seizure rate and duration were increased by Unc13b knockdown compared to wild-type flies, but these effects were less pronounced than in sodium voltage-gated channel alpha subunit 1 (Scn1a) knockdown Drosophila

De novo UNC13B variants previously reported in bipolar disorder and autism spectrum disorder
Sources: Expert Review
Mendeliome v0.9327 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Mendeliome v0.9327 VARS2 Zornitza Stark Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Mendeliome v0.9326 VARS2 Zornitza Stark Publications for gene: VARS2 were set to
Mendeliome v0.9325 VARS2 Zornitza Stark Mode of inheritance for gene: VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9324 VARS2 Zornitza Stark reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24827421, 25058219, 29137650, 29314548, 31064326, 31623496; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9324 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome, MIM 617159 to Sifrim-Hitz-Weiss syndrome, MIM 617159; Childhood idiopathic epilepsy and sinus arrhythmia
Mendeliome v0.9323 CHD4 Zornitza Stark Publications for gene: CHD4 were set to 31388190
Mendeliome v0.9322 CHD4 Zornitza Stark reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34109749; Phenotypes: Childhood idiopathic epilepsy and sinus arrhythmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9322 BCL11A Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence).
Mendeliome v0.9322 BCL11A Zornitza Stark Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101
Mendeliome v0.9321 BCL11A Zornitza Stark Publications for gene: BCL11A were set to
Mendeliome v0.9320 BCL11A Zornitza Stark Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9319 BCL11A Zornitza Stark reviewed gene: BCL11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27453576, 32903878; Phenotypes: Dias-Logan syndrome, MIM# 617101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9319 CFAP221 Zornitza Stark Gene: cfap221 has been classified as Red List (Low Evidence).
Mendeliome v0.9319 CFAP221 Zornitza Stark gene: CFAP221 was added
gene: CFAP221 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CFAP221 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP221 were set to 31636325
Phenotypes for gene: CFAP221 were set to Primary ciliary dyskinesia
Review for gene: CFAP221 was set to RED
Added comment: WES in 1 family with 3 siblings with clinical symptoms of PCD identified compound heterozygous loss-of-function variants in CFAP221, which segregated with disease. No functional studies. Nasal epithelial cells from 1 of the subjects demonstrated slightly reduced beat frequency, however, waveform analysis revealed that the CFAP221 defective cilia beat in an aberrant circular pattern. A candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal.
Sources: Literature
Mendeliome v0.9318 DAB1 Zornitza Stark Mode of inheritance for gene: DAB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9317 DAB1 Zornitza Stark Phenotypes for gene: DAB1 were changed from to Spinocerebellar ataxia 37 MIM#615945; Ataxia and intellectual disability
Mendeliome v0.9316 DAB1 Zornitza Stark Publications for gene: DAB1 were set to
Mendeliome v0.9315 DAB1 Zornitza Stark Mode of pathogenicity for gene: DAB1 was changed from to None
Mendeliome v0.9314 DAB1 Zornitza Stark Mode of inheritance for gene: DAB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9313 DAB1 Zornitza Stark Classified gene: DAB1 as Red List (low evidence)
Mendeliome v0.9313 DAB1 Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence).
Mendeliome v0.9312 DAB1 Zornitza Stark reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: 33928188; Phenotypes: Ataxia, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9312 SNIP1 Zornitza Stark Tag founder tag was added to gene: SNIP1.
Mendeliome v0.9312 ERBB4 Zornitza Stark Gene: erbb4 has been classified as Green List (High Evidence).
Mendeliome v0.9312 ERBB4 Zornitza Stark Phenotypes for gene: ERBB4 were changed from to Amyotrophic lateral sclerosis 19, MIM# MIM#615515; Intellectual disability
Mendeliome v0.9311 ERBB4 Zornitza Stark Publications for gene: ERBB4 were set to
Mendeliome v0.9310 ERBB4 Zornitza Stark Mode of inheritance for gene: ERBB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9309 ERBB4 Zornitza Stark reviewed gene: ERBB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24119685, 28889094, 33603162; Phenotypes: Amyotrophic lateral sclerosis 19, MIM# MIM#615515, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9309 PANX1 Zornitza Stark Publications for gene: PANX1 were set to 30918116; 32838805
Mendeliome v0.9308 PANX1 Zornitza Stark Mode of pathogenicity for gene: PANX1 was changed from None to Other
Mendeliome v0.9307 PANX1 Zornitza Stark Mode of inheritance for gene: PANX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9306 PANX1 Zornitza Stark Classified gene: PANX1 as Green List (high evidence)
Mendeliome v0.9306 PANX1 Zornitza Stark Gene: panx1 has been classified as Green List (High Evidence).
Mendeliome v0.9305 ZDHHC15 Zornitza Stark Phenotypes for gene: ZDHHC15 were changed from Mental retardation, X-linked 91, 300577 to Mental retardation, X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy
Mendeliome v0.9305 ABHD16A Seb Lunke Phenotypes for gene: ABHD16A were changed from Spastic paraplegia to Spastic paraplegia; Intellectual Disability; Callosome
Mendeliome v0.9304 ZDHHC15 Zornitza Stark Publications for gene: ZDHHC15 were set to
Mendeliome v0.9303 ZDHHC15 Krithika Murali changed review comment from: Lewis et al Neurology Genetics 2021

Functional analysis of 4 ZDHHC15 variants - x2 Jin et al, others identified through GeneMatcher

Yeast cells expressing ZDHHC15 p.L13P (Jin et al, maternally inherited), p.K115R (maternally inherited) and p.S330p were indistinguishable from cells harboring the reference ZDHHC15 allele, however those expressing p.H158R (also reported in Jin et al, maternally inherited) disrupted normal protein function.; to: Lewis et al Neurology Genetics 2021

Functional analysis of 4 ZDHHC15 variants - x2 Jin et al Nat Genet 2020 PMID 32989326, others identified through GeneMatcher

Yeast cells expressing ZDHHC15 p.L13P (Jin et al, maternally inherited), p.K115R (maternally inherited) and p.S330p were indistinguishable from cells harboring the reference ZDHHC15 allele, however those expressing p.H158R (also reported in Jin et al, maternally inherited) disrupted normal protein function.
Mendeliome v0.9303 PANX1 Melanie Marty reviewed gene: PANX1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33495594, 30918116, 32838805; Phenotypes: Oocyte maturation defect 7, MIM#618550; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9303 ABHD16A Seb Lunke Classified gene: ABHD16A as Green List (high evidence)
Mendeliome v0.9303 ABHD16A Seb Lunke Gene: abhd16a has been classified as Green List (High Evidence).
Mendeliome v0.9302 ZDHHC15 Krithika Murali reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: 34345675; Phenotypes: cerebral palsy, intellectual disability, autism spectrum disorder, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9302 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Green List (High Evidence).
Mendeliome v0.9302 WIPI2 Zornitza Stark Publications for gene: WIPI2 were set to 30968111
Mendeliome v0.9301 WIPI2 Zornitza Stark Classified gene: WIPI2 as Green List (high evidence)
Mendeliome v0.9301 WIPI2 Zornitza Stark Gene: wipi2 has been classified as Green List (High Evidence).
Mendeliome v0.9300 SNIP1 Seb Lunke Publications for gene: SNIP1 were set to 22279524
Mendeliome v0.9299 ATP11A Zornitza Stark Marked gene: ATP11A as ready
Mendeliome v0.9299 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9299 ATP11A Zornitza Stark Classified gene: ATP11A as Amber List (moderate evidence)
Mendeliome v0.9299 ATP11A Zornitza Stark Gene: atp11a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9298 WIPI2 Dean Phelan reviewed gene: WIPI2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30968111, 34557665; Phenotypes: global developmental delay, intellectual disability, refractory infantile/childhood-onset epilepsy, progressive tetraplegia with joint contractures, dyskinesia, speech and visual impairment, autistic features, ataxic gait; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9298 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Mendeliome v0.9298 WLS Zornitza Stark Classified gene: WLS as Green List (high evidence)
Mendeliome v0.9298 WLS Zornitza Stark Gene: wls has been classified as Green List (High Evidence).
Mendeliome v0.9297 ABHD16A Lucy Spencer gene: ABHD16A was added
gene: ABHD16A was added to Mendeliome. 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
Mendeliome v0.9297 SNIP1 Teresa Zhao reviewed gene: SNIP1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34570759; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9297 ATP11A Elena Savva gene: ATP11A was added
gene: ATP11A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP11A were set to PMID: 34403372
Phenotypes for gene: ATP11A were set to Neurological disorder
Mode of pathogenicity for gene: ATP11A was set to Other
Review for gene: ATP11A was set to AMBER
Added comment: PMID: 34403372:
- Single de novo missense variant reported in a patient with developmental delay and neurological deterioration.
- Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested.
- K/I heterozygous mice died perinatally.
- Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc.

gnomAD: some NMD PTCs present, good quality variants found with 4-5 hets.
Sources: Literature
Mendeliome v0.9297 WLS Teresa Zhao changed review comment from: - We identified homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature; to: - Homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Mendeliome v0.9297 WLS Teresa Zhao gene: WLS was added
gene: WLS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WLS were set to PMID: 34587386
Phenotypes for gene: WLS were set to Syndromic structural birth defects
Review for gene: WLS was set to GREEN
Added comment: - We identified homozygous mutations in 10 affected persons from 5 unrelated families.
- Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects.
- The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis.
Sources: Literature
Mendeliome v0.9297 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9297 SARS Bryony Thompson Gene: sars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9297 SHQ1 Zornitza Stark Classified gene: SHQ1 as Amber List (moderate evidence)
Mendeliome v0.9297 SHQ1 Zornitza Stark Gene: shq1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9296 SHQ1 Zornitza Stark gene: SHQ1 was added
gene: SHQ1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHQ1 were set to 34542157; 29178645
Phenotypes for gene: SHQ1 were set to Dystonia; Neurodegeneration
Review for gene: SHQ1 was set to AMBER
Added comment: Three unrelated families reported. Family 1: isolated dystonia only; Family 2: dystonia, and neurodegeneration; Family 3: neurodegeneration.

Rated Amber as phenotypes likely represent a continuum but currently unclear.
Sources: Literature
Mendeliome v0.9295 SARS Bryony Thompson Classified gene: SARS as Amber List (moderate evidence)
Mendeliome v0.9295 SARS Bryony Thompson Gene: sars has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9294 SARS Bryony Thompson gene: SARS was added
gene: SARS was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS were set to 28236339; 34570399
Phenotypes for gene: SARS were set to Intellectual disability
Review for gene: SARS was set to AMBER
Added comment: Summary - 2 unrelated families with overlapping ID phenotype, and supporting in vitro and patient cell assays.
PMID: 28236339 - an Iranian family (distantly related) segregating a homozygous missense (c.514G>A, p.Asp172Asn) with moderate ID, microcephaly, ataxia, speech impairment, and aggressive behaviour. Also, supporting in vitro functional assays demonstrating altered protein function.
PMID: 34570399 - a consanguineous Turkish family segregating a homozygous missense (c.638G>T, p.(Arg213Leu)) with developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death. Also, reduced protein level and enzymatic activity in patient cells.
Sources: Literature
Mendeliome v0.9293 NDN Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence).
Mendeliome v0.9293 NDN Zornitza Stark Phenotypes for gene: NDN were changed from to Prader-Willi syndrome, MIM# 176270
Mendeliome v0.9292 NDN Zornitza Stark Mode of inheritance for gene: NDN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9291 NDN Zornitza Stark Classified gene: NDN as Red List (low evidence)
Mendeliome v0.9291 NDN Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence).
Mendeliome v0.9290 NDN Zornitza Stark reviewed gene: NDN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Prader-Willi syndrome, MIM# 176270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9290 NFIB Zornitza Stark Gene: nfib has been classified as Green List (High Evidence).
Mendeliome v0.9290 NFIB Zornitza Stark Phenotypes for gene: NFIB were changed from to Macrocephaly, acquired, with impaired intellectual development, MIM#618286
Mendeliome v0.9289 NFIB Zornitza Stark Publications for gene: NFIB were set to
Mendeliome v0.9288 NFIB Zornitza Stark Mode of inheritance for gene: NFIB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9287 NFIB Zornitza Stark Tag SV/CNV tag was added to gene: NFIB.
Mendeliome v0.9287 NFIB Zornitza Stark reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388402; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, MIM#618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9287 ZNF407 Zornitza Stark Phenotypes for gene: ZNF407 were changed from Global developmental delay; Intellectual disability to SIMHA syndrome, MIM# 619557; Global developmental delay; Intellectual disability
Mendeliome v0.9286 ZNF407 Zornitza Stark edited their review of gene: ZNF407: Changed phenotypes: SIMHA syndrome, MIM# 619557, Global developmental delay, Intellectual disability
Mendeliome v0.9286 EIF3F Zornitza Stark Publications for gene: EIF3F were set to 30409806
Mendeliome v0.9285 EIF3F Zornitza Stark edited their review of gene: EIF3F: Added comment: Hüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature. The study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum.; Changed publications: 30409806, 33736665; Changed phenotypes: Mental retardation, autosomal recessive 67, MIM# 618295
Mendeliome v0.9285 PTPRC Zornitza Stark Marked gene: PTPRC as ready
Mendeliome v0.9285 PTPRC Zornitza Stark Gene: ptprc has been classified as Green List (High Evidence).
Mendeliome v0.9285 PTPRC Zornitza Stark Phenotypes for gene: PTPRC were changed from to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971; Hepatitis C virus, susceptibility to MIM# 609532
Mendeliome v0.9284 PTPRC Zornitza Stark Publications for gene: PTPRC were set to
Mendeliome v0.9283 PTPRC Zornitza Stark Mode of inheritance for gene: PTPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9282 PTPRC Zornitza Stark reviewed gene: PTPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11145714, 12073144, 22689986, 10700239; Phenotypes: Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971, Hepatitis C virus, susceptibility to MIM# 609532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9282 CORO1A Zornitza Stark Gene: coro1a has been classified as Green List (High Evidence).
Mendeliome v0.9282 CORO1A Zornitza Stark Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM# 615401
Mendeliome v0.9281 CORO1A Zornitza Stark Publications for gene: CORO1A were set to
Mendeliome v0.9280 CORO1A Zornitza Stark Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9279 POU6F2 Zornitza Stark Added comment: Comment when marking as ready: No evidence for association with Mendelian disease.
Mendeliome v0.9279 POU6F2 Zornitza Stark Gene: pou6f2 has been classified as Red List (Low Evidence).
Mendeliome v0.9279 POU6F2 Zornitza Stark Classified gene: POU6F2 as Red List (low evidence)
Mendeliome v0.9279 POU6F2 Zornitza Stark Gene: pou6f2 has been classified as Red List (Low Evidence).
Mendeliome v0.9278 CDH15 Zornitza Stark Gene: cdh15 has been classified as Red List (Low Evidence).
Mendeliome v0.9278 CDH15 Zornitza Stark Phenotypes for gene: CDH15 were changed from to Mental retardation, autosomal dominant 3, MIM#612580
Mendeliome v0.9277 CDH15 Zornitza Stark Publications for gene: CDH15 were set to
Mendeliome v0.9276 CDH15 Zornitza Stark Mode of inheritance for gene: CDH15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9275 CDH15 Zornitza Stark Classified gene: CDH15 as Red List (low evidence)
Mendeliome v0.9275 CDH15 Zornitza Stark Gene: cdh15 has been classified as Red List (Low Evidence).
Mendeliome v0.9274 CDH15 Zornitza Stark Tag disputed tag was added to gene: CDH15.
Mendeliome v0.9274 CDH15 Zornitza Stark commented on gene: CDH15: PMID: 19012874 - 4 unrelated patients with missense variants and mild-severe ID. Only two genes checked. All variants are common in gnomAD (>20 hets each) and classified as VUS or likely benign in ClinVar (paper is from 2008, pre-dates gnomAD). Functional studies were performed showing a LOF effect, where cell adhesion was reduced.
However NMD PTCs are present in gnomAD (many >=6 hets each)

PMID: 12052883 - null mouse model were viable, showed no gross developmental defects. In particular, the skeletal musculature appeared essentially normal. In the cerebellum of M-cadherin-lacking mutants, typical contactus adherens junctions were present and similar in size and numbers to the equivalent junctions in wild-type animals. However, the adhesion plaques in the cerebellum of these mutants appeared to contain elevated levels of N-cadherin compared to wild-type animals.

PMID: 28422132 - reviewed microdeletions spanning multiple genes including CDH15, suggests it may contribute to a more severe neurological phenotype, with particular regard to brain malformations.

PMID: 26506440 - speculates low penetrance for PTCs in this gene. Acknowledges variants in ExAC, describes them as benign

Note no P/LP variants in ClinVar
Mendeliome v0.9274 CDH15 Zornitza Stark reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: None; Publications: 19012874, 12052883, 28422132, 26506440; Phenotypes: Mental retardation, autosomal dominant 3, MIM#612580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9274 JAK3 Danielle Ariti reviewed gene: JAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 14615376, 11668610; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type MIM# 600802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9274 CORO1A Danielle Ariti reviewed gene: CORO1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25073507, 2352248, 18836449; Phenotypes: Immunodeficiency 8 MIM# 615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9274 POU6F2 Chloe Stutterd reviewed gene: POU6F2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9274 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Femoral hypoplasia to Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702; Hypoplastic femurs and pelvis, MIM#619545
Mendeliome v0.9273 FGF8 Zornitza Stark edited their review of gene: FGF8: Changed phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia, MIM# 612702, Hypoplastic femurs and pelvis, MIM#619545
Mendeliome v0.9273 ARL6IP6 Zornitza Stark Gene: arl6ip6 has been classified as Red List (Low Evidence).
Mendeliome v0.9273 ARL6IP6 Zornitza Stark gene: ARL6IP6 was added
gene: ARL6IP6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARL6IP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP6 were set to 31142202
Phenotypes for gene: ARL6IP6 were set to Cutis marmorata telangiectatica congenita
Review for gene: ARL6IP6 was set to RED
Added comment: A single case reported from a consanguineous family with a homozygous nonsense variant (p.Trp64Ter).
Sources: Literature
Mendeliome v0.9272 CPE Zornitza Stark Publications for gene: CPE were set to 26120850; 32936766
Mendeliome v0.9271 CPE Zornitza Stark Classified gene: CPE as Green List (high evidence)
Mendeliome v0.9271 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Mendeliome v0.9270 CPE Arina Puzriakova reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 34383079; Phenotypes: Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9270 CSTB Zornitza Stark Marked gene: CSTB as ready
Mendeliome v0.9270 CSTB Zornitza Stark Gene: cstb has been classified as Green List (High Evidence).
Mendeliome v0.9270 CSTB Zornitza Stark Phenotypes for gene: CSTB were changed from to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800; Keratolytic winter erythema (MIM#148370)
Mendeliome v0.9269 CSTB Zornitza Stark Publications for gene: CSTB were set to
Mendeliome v0.9268 CSTB Zornitza Stark Mode of inheritance for gene: CSTB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9267 CSTB Zornitza Stark reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32920378, 18028412, 9012407, 9054946; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9267 CD3E Zornitza Stark Gene: cd3e has been classified as Green List (High Evidence).
Mendeliome v0.9267 CD3E Zornitza Stark Phenotypes for gene: CD3E were changed from to Immunodeficiency 18 MIM# 615615
Mendeliome v0.9266 CD3E Zornitza Stark Publications for gene: CD3E were set to
Mendeliome v0.9265 CD3E Zornitza Stark Mode of inheritance for gene: CD3E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9264 CD3D Zornitza Stark Gene: cd3d has been classified as Green List (High Evidence).
Mendeliome v0.9264 CD3D Zornitza Stark Phenotypes for gene: CD3D were changed from to Immunodeficiency 19 MIM# 615617
Mendeliome v0.9263 CD3D Zornitza Stark Publications for gene: CD3D were set to
Mendeliome v0.9262 CD3D Zornitza Stark Mode of inheritance for gene: CD3D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9261 ARHGAP26 Zornitza Stark Gene: arhgap26 has been classified as Red List (Low Evidence).
Mendeliome v0.9261 ARHGAP26 Zornitza Stark Classified gene: ARHGAP26 as Red List (low evidence)
Mendeliome v0.9261 ARHGAP26 Zornitza Stark Gene: arhgap26 has been classified as Red List (Low Evidence).
Mendeliome v0.9260 LEFTY2 Zornitza Stark Marked gene: LEFTY2 as ready
Mendeliome v0.9260 LEFTY2 Zornitza Stark Added comment: Comment when marking as ready: No reports since 1999.
Mendeliome v0.9260 LEFTY2 Zornitza Stark Gene: lefty2 has been classified as Red List (Low Evidence).
Mendeliome v0.9260 LEFTY2 Zornitza Stark Phenotypes for gene: LEFTY2 were changed from to Heterotaxy
Mendeliome v0.9259 LEFTY2 Zornitza Stark Publications for gene: LEFTY2 were set to
Mendeliome v0.9258 LEFTY2 Zornitza Stark Mode of inheritance for gene: LEFTY2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9257 LEFTY2 Zornitza Stark Classified gene: LEFTY2 as Red List (low evidence)
Mendeliome v0.9257 LEFTY2 Zornitza Stark Gene: lefty2 has been classified as Red List (Low Evidence).
Mendeliome v0.9256 CD3E Danielle Ariti reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: 5546002, 28597365, 8490660; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9256 CD3D Danielle Ariti reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14602880, 15546002, 21926461, 21883749; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9256 ARHGAP26 Dean Phelan reviewed gene: ARHGAP26: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.9256 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR to Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Mendeliome v0.9255 EPAS1 Zornitza Stark Phenotypes for gene: EPAS1 were changed from Familial erythrocytosis (MIM#4611783), AD to Familial erythrocytosis (MIM#611783), AD
Mendeliome v0.9254 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#1124000 to Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type MIM#112400
Mendeliome v0.9253 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 6168963; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250 to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250
Mendeliome v0.9252 MAOB Zornitza Stark Gene: maob has been classified as Red List (Low Evidence).
Mendeliome v0.9252 MAOB Zornitza Stark gene: MAOB was added
gene: MAOB was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: MAOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAOB were set to 31700678
Phenotypes for gene: MAOB were set to Cerebral palsy
Review for gene: MAOB was set to RED
Added comment: Variants identified in 2 unrelated individuals with CP (with same variant also identified in unaffected monozygotic twin).
Sources: Expert Review
Mendeliome v0.9251 ATP6V0C Zornitza Stark Marked gene: ATP6V0C as ready
Mendeliome v0.9251 ATP6V0C Zornitza Stark Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9251 ATP6V0C Zornitza Stark Classified gene: ATP6V0C as Amber List (moderate evidence)
Mendeliome v0.9251 ATP6V0C Zornitza Stark Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9250 ATP6V0C Zornitza Stark Tag SV/CNV tag was added to gene: ATP6V0C.
Mendeliome v0.9250 ATP6V0C Zornitza Stark gene: ATP6V0C was added
gene: ATP6V0C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V0C were set to 33190975; 33090716
Phenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly
Review for gene: ATP6V0C was set to AMBER
Added comment: 9 individuals reported with deletions and ID/seizures/microcephaly, minimum overlapping region implicates ATP6V0C as the causative gene. Single case report of de novo SNV and ID/seizures.
Sources: Literature
Mendeliome v0.9249 KDM7A Zornitza Stark Gene: kdm7a has been classified as Red List (Low Evidence).
Mendeliome v0.9249 KDM7A Zornitza Stark gene: KDM7A was added
gene: KDM7A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KDM7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM7A were set to 25666757
Phenotypes for gene: KDM7A were set to Cerebral palsy
Review for gene: KDM7A was set to RED
Added comment: Synonyms: JHDMID, KDM7, KIAA1718

De novo missense VUS identified in a WES CP cohort study, no other reports.
Sources: Literature
Mendeliome v0.9248 ROBO1 Zornitza Stark Gene: robo1 has been classified as Green List (High Evidence).
Mendeliome v0.9248 ROBO1 Zornitza Stark Phenotypes for gene: ROBO1 were changed from to Congenital heart disease; Pituitary anomalies
Mendeliome v0.9247 ROBO1 Zornitza Stark Publications for gene: ROBO1 were set to
Mendeliome v0.9246 ROBO1 Zornitza Stark Mode of inheritance for gene: ROBO1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9245 ROBO1 Zornitza Stark reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28592524, 30530901, 30692597, 33270637, 28402530; Phenotypes: Congenital heart disease, Pituitary anomalies; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9245 ARFGEF1 Zornitza Stark Gene: arfgef1 has been classified as Green List (High Evidence).
Mendeliome v0.9245 ARFGEF1 Zornitza Stark Classified gene: ARFGEF1 as Green List (high evidence)
Mendeliome v0.9245 ARFGEF1 Zornitza Stark Gene: arfgef1 has been classified as Green List (High Evidence).
Mendeliome v0.9244 ARFGEF1 Zornitza Stark gene: ARFGEF1 was added
gene: ARFGEF1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARFGEF1 were set to 34113008
Phenotypes for gene: ARFGEF1 were set to Intellectual disability; Epilepsy
Review for gene: ARFGEF1 was set to GREEN
Added comment: 13 individuals reported with variants in this gene and a neurodevelopmental disorder characterised by variable ID, seizures present in around half. Variants were inherited from mildly affected parents in 40% of families.
Sources: Expert Review
Mendeliome v0.9243 NPR3 Zornitza Stark Gene: npr3 has been classified as Green List (High Evidence).
Mendeliome v0.9243 NPR3 Zornitza Stark Phenotypes for gene: NPR3 were changed from to Boudin-Mortier syndrome, MIM#619543; Tall stature, skeletal abnormalities, aortic dilatation
Mendeliome v0.9242 NPR3 Zornitza Stark Publications for gene: NPR3 were set to
Mendeliome v0.9241 NPR3 Zornitza Stark Mode of inheritance for gene: NPR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9240 NPR3 Zornitza Stark reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032985; Phenotypes: Boudin-Mortier syndrome, MIM#619543, Tall stature, skeletal abnormalities, aortic dilatation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9240 PRR12 Zornitza Stark Phenotypes for gene: PRR12 were changed from Intellectual disability; Iris abnormalities; Complex microphthalmia to Neuroocular syndrome, MIM#619539; Intellectual disability; Iris abnormalities; Complex microphthalmia
Mendeliome v0.9239 PRR12 Zornitza Stark edited their review of gene: PRR12: Changed phenotypes: Neuroocular syndrome, MIM#619539, Intellectual disability, Iris abnormalities, Complex microphthalmia
Mendeliome v0.9239 KCNC3 Zornitza Stark Gene: kcnc3 has been classified as Green List (High Evidence).
Mendeliome v0.9239 KCNC3 Zornitza Stark Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM# 605259
Mendeliome v0.9238 KCNC3 Zornitza Stark Publications for gene: KCNC3 were set to
Mendeliome v0.9237 KCNC3 Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9236 KCNC3 Zornitza Stark reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16501573, 25497598, 25981959, 25981959; Phenotypes: Spinocerebellar ataxia 13, MIM# 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9236 MINPP1 Zornitza Stark Phenotypes for gene: MINPP1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 16, MIM# 619527
Mendeliome v0.9235 MINPP1 Zornitza Stark edited their review of gene: MINPP1: Changed phenotypes: Pontocerebellar hypoplasia, type 16, MIM# 619527
Mendeliome v0.9235 ZC4H2 Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence).
Mendeliome v0.9235 ZC4H2 Zornitza Stark Phenotypes for gene: ZC4H2 were changed from to Wieacker-Wolff syndrome, MIM# 314580
Mendeliome v0.9234 ZC4H2 Zornitza Stark Publications for gene: ZC4H2 were set to
Mendeliome v0.9233 ZC4H2 Zornitza Stark Mode of inheritance for gene: ZC4H2 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)
Mendeliome v0.9232 ZC4H2 Zornitza Stark reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623388, 34322088, 33949289, 31885220, 31206972; Phenotypes: Wieacker-Wolff syndrome, MIM# 314580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9232 ALG10 Zornitza Stark Gene: alg10 has been classified as Red List (Low Evidence).
Mendeliome v0.9232 ALG10 Zornitza Stark gene: ALG10 was added
gene: ALG10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ALG10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG10 were set to 33798445
Phenotypes for gene: ALG10 were set to Progressive myoclonus epilepsy; CDG
Review for gene: ALG10 was set to RED
Added comment: Single individual with homozygous variant identified in a progressive myoclonus epilepsy cohort.
Sources: Literature
Mendeliome v0.9231 LRRK1 Zornitza Stark Gene: lrrk1 has been classified as Green List (High Evidence).
Mendeliome v0.9231 LRRK1 Zornitza Stark Classified gene: LRRK1 as Green List (high evidence)
Mendeliome v0.9231 LRRK1 Zornitza Stark Gene: lrrk1 has been classified as Green List (High Evidence).
Mendeliome v0.9230 LRRK1 Zornitza Stark gene: LRRK1 was added
gene: LRRK1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRK1 were set to 27829680; 27055475; 31571209; 32119750
Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)
Review for gene: LRRK1 was set to GREEN
Added comment: At least 4 unrelated families reported.
Sources: Expert Review
Mendeliome v0.9229 KIF4A Zornitza Stark Publications for gene: KIF4A were set to 24812067
Mendeliome v0.9228 KIF4A Zornitza Stark Classified gene: KIF4A as Green List (high evidence)
Mendeliome v0.9228 KIF4A Zornitza Stark Gene: kif4a has been classified as Green List (High Evidence).
Mendeliome v0.9227 KIF4A Zornitza Stark edited their review of gene: KIF4A: Added comment: Further 11 families reported. Major structural brain abnormalities present in at least 3 (hydrocephalus), variable ID in several.; Changed rating: GREEN; Changed publications: 24812067, 34346154
Mendeliome v0.9227 HNRNPH1 Zornitza Stark Gene: hnrnph1 has been classified as Green List (High Evidence).
Mendeliome v0.9227 HNRNPH1 Zornitza Stark Classified gene: HNRNPH1 as Green List (high evidence)
Mendeliome v0.9227 HNRNPH1 Zornitza Stark Gene: hnrnph1 has been classified as Green List (High Evidence).
Mendeliome v0.9226 IRGM Zornitza Stark Gene: irgm has been classified as Red List (Low Evidence).
Mendeliome v0.9226 IRGM Zornitza Stark Phenotypes for gene: IRGM were changed from to {Inflammatory bowel disease (Crohn disease) 19} MIM#612278
Mendeliome v0.9225 IRGM Zornitza Stark Publications for gene: IRGM were set to
Mendeliome v0.9224 IRGM Zornitza Stark Classified gene: IRGM as Red List (low evidence)
Mendeliome v0.9224 IRGM Zornitza Stark Gene: irgm has been classified as Red List (Low Evidence).
Mendeliome v0.9223 UTP4 Zornitza Stark Marked gene: UTP4 as ready
Mendeliome v0.9223 UTP4 Zornitza Stark Gene: utp4 has been classified as Red List (Low Evidence).
Mendeliome v0.9223 UTP4 Zornitza Stark Phenotypes for gene: UTP4 were changed from to North American Indian childhood cirrhosis
Mendeliome v0.9222 UTP4 Zornitza Stark Publications for gene: UTP4 were set to
Mendeliome v0.9221 UTP4 Zornitza Stark Mode of inheritance for gene: UTP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9220 UTP4 Zornitza Stark Classified gene: UTP4 as Red List (low evidence)
Mendeliome v0.9220 UTP4 Zornitza Stark Gene: utp4 has been classified as Red List (Low Evidence).
Mendeliome v0.9219 UTP4 Zornitza Stark Tag refuted tag was added to gene: UTP4.
Mendeliome v0.9219 UTP4 Zornitza Stark reviewed gene: UTP4: Rating: RED; Mode of pathogenicity: None; Publications: 12417987, 27535533; Phenotypes: North American Indian childhood cirrhosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9219 IRGM Paul De Fazio reviewed gene: IRGM: Rating: RED; Mode of pathogenicity: None; Publications: 17554261, 19299395, 18985712, 20106866, 21278745, 20360734; Phenotypes: {Inflammatory bowel disease (Crohn disease) 19} MIM#612278; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9219 UTP4 Michelle Torres reviewed gene: UTP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9219 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9219 FMN1 Bryony Thompson Classified gene: FMN1 as Amber List (moderate evidence)
Mendeliome v0.9219 FMN1 Bryony Thompson Gene: fmn1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9218 FMN1 Bryony Thompson gene: FMN1 was added
gene: FMN1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: FMN1.
Mode of inheritance for gene: FMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMN1 were set to 20610440; 19383632; 15202026
Phenotypes for gene: FMN1 were set to oligosyndactyly; radioulnar synostosis; hearing loss; renal defects
Review for gene: FMN1 was set to AMBER
Added comment: A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome.
Sources: Literature
Mendeliome v0.9217 LBX1 Zornitza Stark Gene: lbx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9217 LBX1 Zornitza Stark Classified gene: LBX1 as Amber List (moderate evidence)
Mendeliome v0.9217 LBX1 Zornitza Stark Gene: lbx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9216 LBX1 Zornitza Stark gene: LBX1 was added
gene: LBX1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: LBX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LBX1 were set to 30487221
Phenotypes for gene: LBX1 were set to Central hypoventilation syndrome, congenital, 3, MIM#619483
Review for gene: LBX1 was set to AMBER
Added comment: Two siblings reported with homozygous LoF variant in this gene, supportive mouse model.
Sources: Expert Review
Mendeliome v0.9215 FBXW4 Bryony Thompson Phenotypes for gene: FBXW4 were changed from to Split-hand/foot malformation 3 syndrome MIM#246560
Mendeliome v0.9214 B9D1 Bryony Thompson Publications for gene: B9D1 were set to 24886560; 21493627; 25920555
Mendeliome v0.9213 FBXW4 Bryony Thompson Publications for gene: FBXW4 were set to
Mendeliome v0.9212 FBXW4 Bryony Thompson Classified gene: FBXW4 as Red List (low evidence)
Mendeliome v0.9212 FBXW4 Bryony Thompson Gene: fbxw4 has been classified as Red List (Low Evidence).
Mendeliome v0.9211 FBXW4 Bryony Thompson reviewed gene: FBXW4: Rating: RED; Mode of pathogenicity: None; Publications: 12913067, 16235095, 27600068; Phenotypes: Split-hand/foot malformation 3 syndrome MIM#246560; Mode of inheritance: None
Mendeliome v0.9211 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Mendeliome v0.9211 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from to Noonan syndrome 5, MIM# 611553; Cardiomyopathy, dilated, 1NN, MIM# 615916
Mendeliome v0.9210 RAF1 Zornitza Stark Publications for gene: RAF1 were set to
Mendeliome v0.9209 RAF1 Zornitza Stark Mode of pathogenicity for gene: RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v0.9208 RAF1 Zornitza Stark Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9207 RAF1 Zornitza Stark reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17603483, 17603482, 31145547, 31030682, 29271604, 24777450; Phenotypes: Noonan syndrome 5, MIM# 611553, Cardiomyopathy, dilated, 1NN, MIM# 615916; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9207 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Green List (High Evidence).
Mendeliome v0.9207 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, MIM# 130650; IMAGe syndrome, MIM# 614732; Silver-Russell syndrome
Mendeliome v0.9206 CDKN1C Zornitza Stark Publications for gene: CDKN1C were set to
Mendeliome v0.9205 CDKN1C Zornitza Stark Mode of inheritance for gene: CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.9204 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 10424811, 8841187, 22205991, 20503313, 19843502, 15372379, 23511928, 30794780, 33076988, 31976094, 31497289; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650, IMAGe syndrome, MIM# 614732, Silver-Russell syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.9204 B9D1 Bryony Thompson Classified gene: B9D1 as Green List (high evidence)
Mendeliome v0.9204 B9D1 Bryony Thompson Gene: b9d1 has been classified as Green List (High Evidence).
Mendeliome v0.9203 B9D1 Bryony Thompson changed review comment from: hNow N
PMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)
PMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.; to: 3 unrelated cases with a syndromic phenotype and a supporting null mouse model
PMID: 34338422 - compound het missense and frameshift variant in a proband with anal atresia with vestibular fistula, ventricular septal defect, and right renal agenesis (VACTERL cohort)
PMID: 24886560 - 2 Joubert syndrome cases
PMID: 21763481 - B9d1 -/- mouse displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction.
Mendeliome v0.9203 B9D1 Bryony Thompson reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763481, 24886560, 34338422; Phenotypes: Meckel syndrome, Joubert syndrome, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9203 LEFTY2 Elena Savva reviewed gene: LEFTY2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 10518210, 10053005; Phenotypes: Heterotaxy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.9203 CARMIL2 Zornitza Stark Gene: carmil2 has been classified as Green List (High Evidence).
Mendeliome v0.9203 CARMIL2 Zornitza Stark Phenotypes for gene: CARMIL2 were changed from to Immunodeficiency 58, MIM# 618131; Early onset paediatric inflammatory bowel disease
Mendeliome v0.9202 CARMIL2 Zornitza Stark Publications for gene: CARMIL2 were set to
Mendeliome v0.9201 CARMIL2 Zornitza Stark Mode of inheritance for gene: CARMIL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9200 CARMIL2 Zornitza Stark reviewed gene: CARMIL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29479355, 28112205, 27896283, 33723309; Phenotypes: Immunodeficiency 58, MIM# 618131, Early onset paediatric inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9200 PNLDC1 Zornitza Stark Gene: pnldc1 has been classified as Green List (High Evidence).
Mendeliome v0.9200 PNLDC1 Zornitza Stark Classified gene: PNLDC1 as Green List (high evidence)
Mendeliome v0.9200 PNLDC1 Zornitza Stark Gene: pnldc1 has been classified as Green List (High Evidence).
Mendeliome v0.9199 PNLDC1 Zornitza Stark gene: PNLDC1 was added
gene: PNLDC1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: PNLDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNLDC1 were set to 34347949
Phenotypes for gene: PNLDC1 were set to Spermatogenic failure 57, MIM# 619528
Review for gene: PNLDC1 was set to GREEN
Added comment: Four unrelated individuals reported.
Sources: Expert Review
Mendeliome v0.9198 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence).
Mendeliome v0.9198 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Mental retardation with language impairment and with or without autistic features, MIM# 613670
Mendeliome v0.9197 ZMYM2 Zornitza Stark edited their review of gene: ZMYM2: Changed phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522
Mendeliome v0.9197 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders
Mendeliome v0.9196 HCN2 Zornitza Stark edited their review of gene: HCN2: Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders
Mendeliome v0.9196 HSCB Zornitza Stark Gene: hscb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9196 HSCB Zornitza Stark Classified gene: HSCB as Amber List (moderate evidence)
Mendeliome v0.9196 HSCB Zornitza Stark Gene: hscb has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9195 HSCB Zornitza Stark gene: HSCB was added
gene: HSCB was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: HSCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSCB were set to 32634119
Phenotypes for gene: HSCB were set to Anaemia, sideroblastic, 5, MIM# 619523
Review for gene: HSCB was set to AMBER
Added comment: Single individual reported with compound heterozygous variants in this gene. Good functional data including animal model.
Sources: Expert list
Mendeliome v0.9194 FAM57B Zornitza Stark Phenotypes for gene: FAM57B were changed from Cone–rod dystrophy; Maculopathy to Cone-rod dystrophy 22, MIM# 619531; Maculopathy
Mendeliome v0.9193 FAM57B Zornitza Stark edited their review of gene: FAM57B: Changed phenotypes: Cone-rod dystrophy 22, MIM# 619531, Maculopathy
Mendeliome v0.9193 CADM3 Zornitza Stark Phenotypes for gene: CADM3 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519
Mendeliome v0.9192 CADM3 Zornitza Stark reviewed gene: CADM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9192 BCAP31 Zornitza Stark Gene: bcap31 has been classified as Green List (High Evidence).
Mendeliome v0.9192 BCAP31 Zornitza Stark Phenotypes for gene: BCAP31 were changed from to Deafness, dystonia, and cerebral hypomyelination, MIM# 300475
Mendeliome v0.9191 BCAP31 Zornitza Stark Publications for gene: BCAP31 were set to
Mendeliome v0.9190 BCAP31 Zornitza Stark Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9189 BCAP31 Zornitza Stark reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: 24011989, 31330203, 33603160; Phenotypes: Deafness, dystonia, and cerebral hypomyelination, MIM# 300475; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9189 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Mendeliome v0.9189 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809
Mendeliome v0.9188 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Mendeliome v0.9187 AMPD2 Zornitza Stark Mode of inheritance for gene: AMPD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9186 AMPD2 Zornitza Stark Deleted their comment
Mendeliome v0.9186 AMPD2 Zornitza Stark edited their review of gene: AMPD2: Added comment: Well established gene-disease association. Clinical features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.; Changed rating: GREEN; Changed publications: 23911318, 27066553
Mendeliome v0.9186 ALS2 Zornitza Stark Gene: als2 has been classified as Green List (High Evidence).
Mendeliome v0.9186 ALS2 Zornitza Stark Classified gene: ALS2 as Green List (high evidence)
Mendeliome v0.9186 ALS2 Zornitza Stark Gene: als2 has been classified as Green List (High Evidence).
Mendeliome v0.9185 HBG2 Zornitza Stark Gene: hbg2 has been classified as Green List (High Evidence).
Mendeliome v0.9185 HBG2 Zornitza Stark Phenotypes for gene: HBG2 were changed from to Fetal hemoglobin quantitative trait locus 1, MIM# 141749; Cyanosis, transient neonatal, MIM# 613977
Mendeliome v0.9184 HBG2 Zornitza Stark Publications for gene: HBG2 were set to
Mendeliome v0.9183 HBG2 Zornitza Stark Mode of inheritance for gene: HBG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9182 HBG2 Zornitza Stark reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26500940; Phenotypes: Fetal hemoglobin quantitative trait locus 1, MIM# 141749, Cyanosis, transient neonatal, MIM# 613977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9182 HBG1 Zornitza Stark Gene: hbg1 has been classified as Green List (High Evidence).
Mendeliome v0.9182 HBG1 Zornitza Stark Classified gene: HBG1 as Green List (high evidence)
Mendeliome v0.9182 HBG1 Zornitza Stark Gene: hbg1 has been classified as Green List (High Evidence).
Mendeliome v0.9181 HBG1 Zornitza Stark gene: HBG1 was added
gene: HBG1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: HBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HBG1 were set to 26500940
Phenotypes for gene: HBG1 were set to Fetal haemoglobin quantitative trait locus 1, 141749
Review for gene: HBG1 was set to GREEN
Added comment: Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or haematologic manifestations.
Sources: Expert Review
Mendeliome v0.9180 WNT9B Zornitza Stark Marked gene: WNT9B as ready
Mendeliome v0.9180 WNT9B Zornitza Stark Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9180 WNT9B Zornitza Stark Phenotypes for gene: WNT9B were changed from to Renal agenesis/hypoplasia/dysplasia
Mendeliome v0.9179 WNT9B Zornitza Stark Publications for gene: WNT9B were set to
Mendeliome v0.9178 WNT9B Zornitza Stark Mode of inheritance for gene: WNT9B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9177 WNT9B Zornitza Stark Classified gene: WNT9B as Amber List (moderate evidence)
Mendeliome v0.9177 WNT9B Zornitza Stark Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9176 WNT9B Zornitza Stark reviewed gene: WNT9B: Rating: AMBER; Mode of pathogenicity: None; Publications: 34145744; Phenotypes: Renal agenesis/hypoplasia/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9176 DDX23 Zornitza Stark Gene: ddx23 has been classified as Green List (High Evidence).
Mendeliome v0.9176 DDX23 Zornitza Stark Phenotypes for gene: DDX23 were changed from Developmental disorder to DDX23-associated neurodevelopmental disorder
Mendeliome v0.9175 DDX23 Zornitza Stark Publications for gene: DDX23 were set to 33057194
Mendeliome v0.9174 DDX23 Zornitza Stark Classified gene: DDX23 as Green List (high evidence)
Mendeliome v0.9174 DDX23 Zornitza Stark Gene: ddx23 has been classified as Green List (High Evidence).
Mendeliome v0.9173 DDX23 Zornitza Stark reviewed gene: DDX23: Rating: GREEN; Mode of pathogenicity: None; Publications: 34050707; Phenotypes: DDX23-associated neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9173 TAF2 Zornitza Stark Publications for gene: TAF2 were set to 21937992; 22633631; 26350204; 24084144
Mendeliome v0.9172 TAF2 Zornitza Stark Classified gene: TAF2 as Green List (high evidence)
Mendeliome v0.9172 TAF2 Zornitza Stark Gene: taf2 has been classified as Green List (High Evidence).
Mendeliome v0.9171 TAF2 Zornitza Stark edited their review of gene: TAF2: Added comment: New report of 4 individuals from 2 unrelated families, with severe intellectual disability, global developmental delay, postnatal microcephaly, feet deformities and thin corpus callosum. They had homozygous TAF2 missense variants detected by Exome Sequencing.; Changed rating: GREEN; Changed publications: 21937992, 22633631, 26350204, 24084144, 34474177
Mendeliome v0.9171 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9171 ERGIC1 Zornitza Stark Classified gene: ERGIC1 as Amber List (moderate evidence)
Mendeliome v0.9171 ERGIC1 Zornitza Stark Gene: ergic1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9170 ERGIC1 Zornitza Stark gene: ERGIC1 was added
gene: ERGIC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 28317099; 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type; OMIM # 208100
Review for gene: ERGIC1 was set to AMBER
Added comment: Reinstein et al. (2018) used WES in a large consanguineous Israeli Arab kindred consisting of 16 patients affected with the neurogenic type of arthrogryposis multiplex congenita. They identified a homozygous missense (V98E) mutation in ERGIC1 gene, which segregated with the disorder in the kindred, and was not found in the ExAC database or in 212 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed. ERGIC1 encodes a cycling membrane protein which has a possible role in transport between endoplasmic reticulum and Golgi.

Marconi et al (2021) used genome sequencing in a consanguineous family with 2 affected siblings presenting congenital arthrogryposis and some facial dysmorphism. They identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents.
Sources: Literature
Mendeliome v0.9169 HMGB1 Zornitza Stark Phenotypes for gene: HMGB1 were changed from Mirror image foot polydactyly to Mirror image foot polydactyly; Developmental delay and microcephaly, no OMIM #
Mendeliome v0.9168 HMGB1 Zornitza Stark Publications for gene: HMGB1 were set to 34159400
Mendeliome v0.9167 HMGB1 Chirag Patel reviewed gene: HMGB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34164801; Phenotypes: Developmental delay and microcephaly, no OMIM #; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9167 HMGB1 Chirag Patel Classified gene: HMGB1 as Green List (high evidence)
Mendeliome v0.9167 HMGB1 Chirag Patel Gene: hmgb1 has been classified as Green List (High Evidence).
Mendeliome v0.9166 FCGR2B Zornitza Stark Gene: fcgr2b has been classified as Red List (Low Evidence).
Mendeliome v0.9166 FCGR2B Zornitza Stark Phenotypes for gene: FCGR2B were changed from to {Systemic lupus erythematosus, susceptibility to} MIM#152700
Mendeliome v0.9165 FCGR2B Zornitza Stark Publications for gene: FCGR2B were set to
Mendeliome v0.9164 FCGR2B Zornitza Stark Mode of inheritance for gene: FCGR2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9163 FCGR2B Zornitza Stark Classified gene: FCGR2B as Red List (low evidence)
Mendeliome v0.9163 FCGR2B Zornitza Stark Gene: fcgr2b has been classified as Red List (Low Evidence).
Mendeliome v0.9162 FCGR2B Paul De Fazio reviewed gene: FCGR2B: Rating: RED; Mode of pathogenicity: None; Publications: 12115230, 15153543, 20385827; Phenotypes: {Systemic lupus erythematosus, susceptibility to} MIM#152700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9162 GPX1 Zornitza Stark Gene: gpx1 has been classified as Red List (Low Evidence).
Mendeliome v0.9162 GPX1 Zornitza Stark gene: GPX1 was added
gene: GPX1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX1 were set to 1131421; 476008; 5766310; 2492138
Phenotypes for gene: GPX1 were set to Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164
Review for gene: GPX1 was set to RED
Added comment: No individuals reported with GPX1 variants identified as the cause of Haemolytic anaemia due to glutathione peroxidase deficiency. Multiple papers report a number of cases of Haemolytic anaemia due to glutathione peroxidase deficiency, however there is no defined link or variant to GPX1 (PMID: 5766310. PMID: 1131421, PMID: 2492138, PMID: 476008)

Overall, lowered glutathione peroxidase activity has been observed in a number of individuals with haemolytic anaemia however the evidence for a cause-and-effect relationship between the enzyme deficiency and the presenting anaemia is not evident.
Sources: Expert Review
Mendeliome v0.9161 CYP51A1 Bryony Thompson Mode of inheritance for gene: CYP51A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9160 CYP51A1 Bryony Thompson reviewed gene: CYP51A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22935719, 26622071, 27878435, 25148791; Phenotypes: Congenital cataract, infantile liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9160 CYB5A Zornitza Stark Gene: cyb5a has been classified as Green List (High Evidence).
Mendeliome v0.9160 CYB5A Zornitza Stark Phenotypes for gene: CYB5A were changed from to Methemoglobinaemia and ambiguous genitalia, MIM# 250790
Mendeliome v0.9159 CYB5A Zornitza Stark Publications for gene: CYB5A were set to
Mendeliome v0.9158 CYB5A Zornitza Stark Mode of inheritance for gene: CYB5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9157 CYB5A Zornitza Stark reviewed gene: CYB5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22170710, 32051920; Phenotypes: Methemoglobinemia and ambiguous genitalia 250790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9157 COL14A1 Zornitza Stark Gene: col14a1 has been classified as Red List (Low Evidence).
Mendeliome v0.9157 COL14A1 Zornitza Stark gene: COL14A1 was added
gene: COL14A1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: COL14A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL14A1 were set to 22972947
Phenotypes for gene: COL14A1 were set to Punctate palmoplantar keratoderma type 1B
Review for gene: COL14A1 was set to RED
Added comment: 4 affected individuals and 2 unaffected controls from one Chinese PPPK family where disease locus was mapped at 8q24.13-8q24.21 by previous linkage analysis. Exome sequencing analysis identified a heterozygous variant in COL14A1 gene (c.4505C>T (p.Pro1502Leu)). The variant was shared by 4 affected individuals, but not 2 controls of the family. Sanger sequencing confirmed this variant in another four cases from this family. Variant was absent in the normal controls of this family as well as 676 unrelated normal controls and 781 patients with other disease. The missense substitution occurs at a highly conserved amino acid residue across multiple species.
Sources: Expert Review
Mendeliome v0.9156 EGLN1 Zornitza Stark Gene: egln1 has been classified as Green List (High Evidence).
Mendeliome v0.9156 EGLN1 Zornitza Stark Phenotypes for gene: EGLN1 were changed from to Erythrocytosis, familial, 3, MIM# 609820
Mendeliome v0.9155 EGLN1 Zornitza Stark Publications for gene: EGLN1 were set to
Mendeliome v0.9154 EGLN1 Zornitza Stark Mode of inheritance for gene: EGLN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9153 EGLN1 Zornitza Stark reviewed gene: EGLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19092153, 16407130, 17579185; Phenotypes: Erythrocytosis, familial, 3, MIM# 609820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9153 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Mendeliome v0.9153 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410; Apert syndrome, MIM# 101200; Beare-Stevenson cutis gyrata syndrome, MIM# 123790; Bent bone dysplasia syndrome, MIM# 614592; Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600; Craniosynostosis, nonspecific; Crouzon syndrome , MIM#123500; Jackson-Weiss syndrome,MIM# 123150; LADD syndrome, MIM# 149730; Pfeiffer syndrome,MIM# 101600; Saethre-Chotzen syndrome 101400
Mendeliome v0.9152 FGFR2 Zornitza Stark Publications for gene: FGFR2 were set to
Mendeliome v0.9151 FGFR2 Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9150 SLC4A1 Zornitza Stark Gene: slc4a1 has been classified as Green List (High Evidence).
Mendeliome v0.9150 SLC4A1 Zornitza Stark Phenotypes for gene: SLC4A1 were changed from to Cryohydrocytosis MIM# 185020; Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590; Ovalocytosis, SA type MIM# 166900; Spherocytosis, type 4 MIM# 612653; Distal renal tubular acidosis 1 MIM# 179800
Mendeliome v0.9149 SLC4A1 Zornitza Stark Publications for gene: SLC4A1 were set to
Mendeliome v0.9148 SLC4A1 Zornitza Stark Mode of inheritance for gene: SLC4A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9147 FGFR2 Chern Lim reviewed gene: FGFR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29848297, 32879300, 27323706; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.9147 SLC4A1 Danielle Ariti reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16227998, 15211439, 7949112, 8640229, 16227998, 8640229, 16227998, 33881640, 32632909; Phenotypes: Cryohydrocytosis MIM# 185020, Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590, Ovalocytosis, SA type MIM# 166900, Spherocytosis, type 4 MIM# 612653, Distal renal tubular acidosis 1 MIM# 179800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9147 STEAP3 Zornitza Stark Phenotypes for gene: STEAP3 were changed from Anemia, hypochromic microcytic, with iron overload 2, MIM# 615234 to Anaemia, hypochromic microcytic, with iron overload 2, MIM# 615234
Mendeliome v0.9146 STEAP3 Zornitza Stark Publications for gene: STEAP3 were set to 22031863; 25515317
Mendeliome v0.9145 STEAP3 Zornitza Stark Classified gene: STEAP3 as Red List (low evidence)
Mendeliome v0.9145 STEAP3 Zornitza Stark Gene: steap3 has been classified as Red List (Low Evidence).
Mendeliome v0.9144 STEAP3 Zornitza Stark changed review comment from: Single family reported. Three affected sibs, variant inherited from unaffected father. Some supportive functional evidence.; to: Single family reported. Three affected sibs, variant inherited from unaffected father. Some supportive functional evidence.

Conflicting evidence (PMID 26675350): Large Chinese study (of normal and α-thalassemia subjects) investigated the prevalence of STEAP3 mutations in humans and their physiologic consequences. Discovered a relatively high prevalence of potentially harmful recessive alleles. However, whilst the identified STEAP3 mutations exhibited impaired ferrireductase activity in vitro, they had little or no effect on erythrocyte phenotypes
Mendeliome v0.9144 STEAP3 Zornitza Stark edited their review of gene: STEAP3: Changed rating: RED; Changed publications: 22031863, 25515317, 26675350; Changed phenotypes: Anaemia, hypochromic microcytic, with iron overload 2, MIM# 615234
Mendeliome v0.9144 NT5C3A Zornitza Stark Marked gene: NT5C3A as ready
Mendeliome v0.9144 NT5C3A Zornitza Stark Gene: nt5c3a has been classified as Green List (High Evidence).
Mendeliome v0.9144 NT5C3A Zornitza Stark Phenotypes for gene: NT5C3A were changed from to Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120
Mendeliome v0.9143 NT5C3A Zornitza Stark Publications for gene: NT5C3A were set to
Mendeliome v0.9142 NT5C3A Zornitza Stark Mode of inheritance for gene: NT5C3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9141 NT5C3A Zornitza Stark reviewed gene: NT5C3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11369620, 12714505, 30951028, 25153905; Phenotypes: Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9141 IMPG1 Zornitza Stark Phenotypes for gene: IMPG1 were changed from Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200 to Macular dystrophy, vitelliform, 4, OMIM:616151; Retinitis pigmentosa, MONDO:0019200; Retinitis pigmentosa 91, MIM# 153870
Mendeliome v0.9140 IMPG1 Zornitza Stark reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 91, MIM# 153870; Mode of inheritance: None
Mendeliome v0.9140 ABCC11 Zornitza Stark Gene: abcc11 has been classified as Red List (Low Evidence).
Mendeliome v0.9140 ABCC11 Zornitza Stark Phenotypes for gene: ABCC11 were changed from to [Axillary odor, variation in] 117800; [Colostrum secretion, variation in] 117800; [Earwax, wet/dry] 117800
Mendeliome v0.9139 ABCC11 Zornitza Stark Classified gene: ABCC11 as Red List (low evidence)
Mendeliome v0.9139 ABCC11 Zornitza Stark Gene: abcc11 has been classified as Red List (Low Evidence).
Mendeliome v0.9138 ABCC11 Zornitza Stark reviewed gene: ABCC11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Axillary odor, variation in] 117800, [Colostrum secretion, variation in] 117800, [Earwax, wet/dry] 117800; Mode of inheritance: None
Mendeliome v0.9138 KCNN4 Zornitza Stark Publications for gene: KCNN4 were set to 26148990; 26198474; 26178367
Mendeliome v0.9137 KCNN4 Zornitza Stark changed review comment from: At least three families reported.
Sources: Expert list; to: Well established gene-disease association, more than 10 families and functional data.
Mendeliome v0.9137 KCNN4 Zornitza Stark edited their review of gene: KCNN4: Changed publications: 26148990, 26198474, 26178367, 33519508, 31091145, 28619848; Changed phenotypes: Dehydrated hereditary stomatocytosis 2, MIM# 616689
Mendeliome v0.9137 MTRR Zornitza Stark Marked gene: MTRR as ready
Mendeliome v0.9137 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Mendeliome v0.9137 MTRR Zornitza Stark Phenotypes for gene: MTRR were changed from to Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270
Mendeliome v0.9136 MTRR Zornitza Stark Publications for gene: MTRR were set to
Mendeliome v0.9135 MTRR Zornitza Stark Mode of inheritance for gene: MTRR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9134 MTRR Zornitza Stark reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12555939, 15714522; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9134 MTR Zornitza Stark Marked gene: MTR as ready