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Fetal anomalies v0.1972 NSD2 Zornitza Stark Gene: nsd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1971 NSD2 Zornitza Stark gene: NSD2 was added
gene: NSD2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 30345613; 31171569
Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, MIM# 619695
Review for gene: NSD2 was set to GREEN
Added comment: 7 unrelated individuals reported with LOF variants. Gene thought to be responsible for many of the features of Wolf-Hirschorn syndrome.

Prenatal growth retardation is a feature.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4433 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability
Intellectual disability syndromic and non-syndromic v0.4432 NSD2 Zornitza Stark edited their review of gene: NSD2: Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability
Microcephaly v1.92 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability
Microcephaly v1.91 NSD2 Zornitza Stark edited their review of gene: NSD2: Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability
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
Fetal anomalies v0.1970 SMAD4 Seb Lunke Marked gene: SMAD4 as ready
Fetal anomalies v0.1970 SMAD4 Seb Lunke Gene: smad4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1970 SMAD4 Seb Lunke Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME to Myhre syndrome, OMIM#139210, MONDO:0007688
Fetal anomalies v0.1969 SMAD4 Seb Lunke reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myhre syndrome, OMIM#139210, MONDO:0007688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1969 SMAD3 Seb Lunke Marked gene: SMAD3 as ready
Fetal anomalies v0.1969 SMAD3 Seb Lunke Gene: smad3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1969 SMAD3 Seb Lunke Phenotypes for gene: SMAD3 were changed from SMAD3-RELATED LOEYS-DIETZ SYNDROME to Loeys-Dietz syndrome, SMAD3 related, MIM#613795, MONDO:0018954
Fetal anomalies v0.1968 SMAD3 Seb Lunke reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome, MIM#613795, MONDO:0018954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1968 SLC33A1 Seb Lunke Marked gene: SLC33A1 as ready
Fetal anomalies v0.1968 SLC33A1 Seb Lunke Gene: slc33a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1968 SLC33A1 Seb Lunke Phenotypes for gene: SLC33A1 were changed from AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN to CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482
Fetal anomalies v0.1967 SLC33A1 Seb Lunke Publications for gene: SLC33A1 were set to
Fetal anomalies v0.1966 SLC33A1 Seb Lunke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315; Phenotypes: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OMIM#614482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10600 KISS1R Zornitza Stark Marked gene: KISS1R as ready
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
Fetal anomalies v0.1966 KISS1R Zornitza Stark Marked gene: KISS1R as ready
Fetal anomalies v0.1966 KISS1R Zornitza Stark Gene: kiss1r has been classified as Red List (Low Evidence).
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
Fetal anomalies v0.1966 KISS1R Zornitza Stark Publications for gene: KISS1R were set to
Fetal anomalies v0.1965 KCTD7 Zornitza Stark Marked gene: KCTD7 as ready
Fetal anomalies v0.1965 KCTD7 Zornitza Stark Gene: kctd7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1965 KCTD7 Zornitza Stark Phenotypes for gene: KCTD7 were changed from PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3; NEURONAL CEROID LIPOFUSCINOSIS to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726)
Fetal anomalies v0.1964 KCTD7 Zornitza Stark Publications for gene: KCTD7 were set to
Fetal anomalies v0.1963 IDH1 Zornitza Stark Marked gene: IDH1 as ready
Fetal anomalies v0.1963 IDH1 Zornitza Stark Gene: idh1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1963 IDH1 Zornitza Stark Phenotypes for gene: IDH1 were changed from Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000; Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875 to Ollier disease MONDO:0008145; Maffucci syndrome MONDO:0013808
Fetal anomalies v0.1962 IDH1 Zornitza Stark Publications for gene: IDH1 were set to 22057234; 22057236; 22025298; 24049096
Fetal anomalies v0.1961 IDH1 Zornitza Stark Mode of inheritance for gene: IDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Fetal anomalies v0.1960 IDH1 Zornitza Stark Classified gene: IDH1 as Red List (low evidence)
Fetal anomalies v0.1960 IDH1 Zornitza Stark Gene: idh1 has been classified as Red List (Low Evidence).
Mendeliome v0.10597 IDH1 Zornitza Stark Marked gene: IDH1 as ready
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.
Fetal anomalies v0.1959 HPD Zornitza Stark Marked gene: HPD as ready
Fetal anomalies v0.1959 HPD Zornitza Stark Gene: hpd has been classified as Red List (Low Evidence).
Fetal anomalies v0.1959 HPD Zornitza Stark Phenotypes for gene: HPD were changed from TYROSINEMIA TYPE 3; HAWKINSINURIA to Hawkinsinuria (MIM#140350), AD; Tyrosinemia type III (MIM#276710), AR
Fetal anomalies v0.1958 HPD Zornitza Stark Publications for gene: HPD were set to
Fetal anomalies v0.1957 HPD Zornitza Stark Mode of inheritance for gene: HPD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1956 HPD Zornitza Stark Classified gene: HPD as Red List (low evidence)
Fetal anomalies v0.1956 HPD Zornitza Stark Gene: hpd has been classified as Red List (Low Evidence).
Fetal anomalies v0.1955 HPD Zornitza Stark reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4432 HNRNPH2 Zornitza Stark Marked gene: HNRNPH2 as ready
Intellectual disability syndromic and non-syndromic v0.4432 HNRNPH2 Zornitza Stark Gene: hnrnph2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4432 HNRNPH2 Zornitza Stark Phenotypes for gene: HNRNPH2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986
Intellectual disability syndromic and non-syndromic v0.4431 HNRNPH2 Zornitza Stark Publications for gene: HNRNPH2 were set to
Intellectual disability syndromic and non-syndromic v0.4430 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)
Intellectual disability syndromic and non-syndromic v0.4429 HNRNPH2 Zornitza Stark 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)
Genetic Epilepsy v0.1420 HNRNPH2 Zornitza Stark Marked gene: HNRNPH2 as ready
Genetic Epilepsy v0.1420 HNRNPH2 Zornitza Stark Gene: hnrnph2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1420 HNRNPH2 Zornitza Stark Phenotypes for gene: HNRNPH2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986
Genetic Epilepsy v0.1419 HNRNPH2 Zornitza Stark Publications for gene: HNRNPH2 were set to
Genetic Epilepsy v0.1418 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)
Genetic Epilepsy v0.1417 HNRNPH2 Zornitza Stark 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)
Mendeliome v0.10593 HNRNPH2 Zornitza Stark Marked gene: HNRNPH2 as ready
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)
Fetal anomalies v0.1955 HNRNPH2 Zornitza Stark Marked gene: HNRNPH2 as ready
Fetal anomalies v0.1955 HNRNPH2 Zornitza Stark Gene: hnrnph2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1955 HNRNPH2 Zornitza Stark Phenotypes for gene: HNRNPH2 were changed from Neurodevelopmental Disorder in Females to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986
Fetal anomalies v0.1954 HNRNPH2 Zornitza Stark Publications for gene: HNRNPH2 were set to
Fetal anomalies v0.1953 HNRNPH2 Zornitza Stark Classified gene: HNRNPH2 as Green List (high evidence)
Fetal anomalies v0.1953 HNRNPH2 Zornitza Stark Gene: hnrnph2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1952 KCNT1 Zornitza Stark Marked gene: KCNT1 as ready
Fetal anomalies v0.1952 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1952 KCNT1 Zornitza Stark Phenotypes for gene: KCNT1 were changed from SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY to Epilepsy, nocturnal frontal lobe, 5 (MIM#615005); Epileptic encephalopathy, early infantile, 14 (MIM#614959)
Fetal anomalies v0.1951 KCNT1 Zornitza Stark Publications for gene: KCNT1 were set to
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
Genetic Epilepsy v0.1417 KCNT1 Zornitza Stark Deleted their comment
Genetic Epilepsy v0.1417 KCNT1 Zornitza Stark commented on gene: KCNT1: Multiple families reported.
Fetal anomalies v0.1950 KCNT1 Zornitza Stark Mode of inheritance for gene: KCNT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4429 TCTN1 Ain Roesley gene: TCTN1 was added
gene: TCTN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN1 were set to 31302911; 28631893; 21725307; 26477546; 34980503
Phenotypes for gene: TCTN1 were set to Joubert syndrome 13, MIM# 614173; MONDO:0013608
Penetrance for gene: TCTN1 were set to Complete
Review for gene: TCTN1 was set to GREEN
gene: TCTN1 was marked as current diagnostic
Added comment: Rare cause of JBS, at least 6 families reported, mouse model.

ID/developmental delay described in at least 3 of them
Sources: Literature
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
Fetal anomalies v0.1949 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Fetal anomalies v0.1949 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1949 KCNQ2 Zornitza Stark Phenotypes for gene: KCNQ2 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1 to Developmental and epileptic encephalopathy 7 (MIM#613720); Myokymia (MIM#121200); Seizures, benign neonatal, 1 (MIM#121200)
Fetal anomalies v0.1948 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to 30712880
Fetal anomalies v0.1947 KCNQ2 Zornitza Stark Mode of inheritance for gene: KCNQ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1946 HMGA2 Zornitza Stark Marked gene: HMGA2 as ready
Fetal anomalies v0.1946 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1946 HMGA2 Zornitza Stark Publications for gene: HMGA2 were set to 28796236; 29655892; 29453418; 25809938
Fetal anomalies v0.1945 HMGA2 Zornitza Stark Mode of inheritance for gene: HMGA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1944 HMGA2 Zornitza Stark Tag SV/CNV tag was added to gene: HMGA2.
Fetal anomalies v0.1944 HMGA2 Zornitza Stark Classified gene: HMGA2 as Green List (high evidence)
Fetal anomalies v0.1944 HMGA2 Zornitza Stark Gene: hmga2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1943 KCNJ11 Zornitza Stark Marked gene: KCNJ11 as ready
Fetal anomalies v0.1943 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1943 KCNJ11 Zornitza Stark Phenotypes for gene: KCNJ11 were changed from FAMILIAL HYPERINSULINISM; DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL to Diabetes mellitus, transient neonatal 3 (MIM#610582); Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856)
Fetal anomalies v0.1942 KCNJ11 Zornitza Stark Publications for gene: KCNJ11 were set to
Fetal anomalies v0.1941 KCNJ11 Zornitza Stark Classified gene: KCNJ11 as Amber List (moderate evidence)
Fetal anomalies v0.1941 KCNJ11 Zornitza Stark Gene: kcnj11 has been classified as Amber List (Moderate Evidence).
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
Differences of Sex Development v0.234 MAMLD1 Teresa Zhao reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26815876, PMID: 31555317, PMID: 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4429 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
Intellectual disability syndromic and non-syndromic v0.4428 PRKAR1B Zornitza Stark Publications for gene: PRKAR1B were set to https://doi.org/10.1101/2020.09.10.20190314; 33057194
Intellectual disability syndromic and non-syndromic v0.4427 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 v0.10586 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
Fetal anomalies v0.1940 NAA10 Zornitza Stark Marked gene: NAA10 as ready
Fetal anomalies v0.1940 NAA10 Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence).
Fetal anomalies v0.1940 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from X-linked anophthalmia syndrome/Lenz; X-linked anophthalmia syndrome; NONPECIFIC SEVERE ID; OGDEN SYNDROME to Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855
Fetal anomalies v0.1939 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Fetal anomalies v0.1938 NAA10 Zornitza Stark edited their review of gene: NAA10: Added comment: For Ogden association, PMID 34075687:
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; Changed publications: 30842225, 24431331, 34075687; Changed phenotypes: Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855
Intellectual disability syndromic and non-syndromic v0.4426 NAA10 Zornitza Stark Tag 5'UTR tag was added to gene: NAA10.
Intellectual disability syndromic and non-syndromic v0.4426 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800; Ogden syndrome MIM#300855
Intellectual disability syndromic and non-syndromic v0.4425 NAA10 Zornitza Stark Publications for gene: NAA10 were set to
Intellectual disability syndromic and non-syndromic v0.4424 NAA10 Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.4423 NAA10 Zornitza Stark reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842225, 34075687, 21700266; Phenotypes: Microphthalmia, syndromic 1, MIM# 309800, Ogden syndrome MIM#300855; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Polydactyly v0.246 TOPORS Zornitza Stark Marked gene: TOPORS as ready
Polydactyly v0.246 TOPORS Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence).
Polydactyly v0.246 TOPORS Zornitza Stark Classified gene: TOPORS as Amber List (moderate evidence)
Polydactyly v0.246 TOPORS Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence).
Polydactyly v0.245 TOPORS Zornitza Stark gene: TOPORS was added
gene: TOPORS was added to Polydactyly. Sources: Literature
Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOPORS were set to 34132027
Phenotypes for gene: TOPORS were set to MONDO:0005308; ciliopathy; postaxial polydactyly; multiple lingual hamartomas; dysmorphic features
Review for gene: TOPORS was set to AMBER
Added comment: PMID:34132027 - Two unrelated probands with postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features both found to be homozygous for the same missense variant (p.Pro10Gln). Suggested possible founder allele. Further search did not identify any additional publications.

Note mono-allelic variants associated with RP.
Sources: Literature
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
Angelman Rett like syndromes v1.1 SLC35F1 Zornitza Stark Marked gene: SLC35F1 as ready
Angelman Rett like syndromes v1.1 SLC35F1 Zornitza Stark Gene: slc35f1 has been classified as Red List (Low Evidence).
Angelman Rett like syndromes v1.1 SLC35F1 Zornitza Stark gene: SLC35F1 was added
gene: SLC35F1 was added to Angelman Rett like syndromes. Sources: Literature
Mode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC35F1 were set to 33821533
Phenotypes for gene: SLC35F1 were set to Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome
Review for gene: SLC35F1 was set to RED
Added comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.

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

No functional data
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4423 SLC35F1 Zornitza Stark Marked gene: SLC35F1 as ready
Intellectual disability syndromic and non-syndromic v0.4423 SLC35F1 Zornitza Stark Gene: slc35f1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4423 SLC35F1 Zornitza Stark gene: SLC35F1 was added
gene: SLC35F1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC35F1 were set to 33821533
Phenotypes for gene: SLC35F1 were set to Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome
Review for gene: SLC35F1 was set to RED
Added comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.

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

No functional data
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v0.85 MYH1 Zornitza Stark Marked gene: MYH1 as ready
Rhabdomyolysis and Metabolic Myopathy v0.85 MYH1 Zornitza Stark Gene: myh1 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.85 MYH1 Zornitza Stark gene: MYH1 was added
gene: MYH1 was added to Rhabdomyolysis. 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 rhabdomyolysis, MONDO:0005290
Review for gene: MYH1 was set to RED
Added comment: 18 yr old male from a consaguineous family. WES identified homozygous c.1295A>C:p.K432T variant. Only 1 het in gnomad v2 and v3. No functional data.
Sources: Literature
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
Autoinflammatory Disorders v0.130 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated to Autoinflammatory syndrome MONDO:0019751, TLR8-associated
Fetal anomalies v0.1938 SF3B4 Seb Lunke Marked gene: SF3B4 as ready
Fetal anomalies v0.1938 SF3B4 Seb Lunke Gene: sf3b4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1938 SF3B4 Seb Lunke Phenotypes for gene: SF3B4 were changed from Acrofacial dysostosis 1, Nager type, MIM# 154400 to Acrofacial dysostosis 1, Nager type, MIM# 154400
Fetal anomalies v0.1937 SF3B4 Seb Lunke Publications for gene: SF3B4 were set to 22541558
Fetal anomalies v0.1936 SF3B4 Seb Lunke Publications for gene: SF3B4 were set to
Fetal anomalies v0.1935 SF3B4 Seb Lunke Mode of inheritance for gene: SF3B4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1934 SF3B4 Seb Lunke Phenotypes for gene: SF3B4 were changed from ACROFACIAL DYSOSTOSIS 1, NAGER TYPE to Acrofacial dysostosis 1, Nager type, MIM# 154400
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
Chromosome Breakage Disorders v1.10 MARS Zornitza Stark Phenotypes for gene: MARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive, MIM# 619691Trichothiodystrophy 9, nonphotosensitive, MIM# 619692
Chromosome Breakage Disorders v1.9 MARS Zornitza Stark edited their review of gene: MARS: Changed phenotypes: Trichothiodystrophy, MONDO:0018053, 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 Marked gene: RNF170 as ready
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
Chromosome Breakage Disorders v1.9 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Trichothiodystrophy, MONDO:0018053 to Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 8, nonphotosensitive 619691
Chromosome Breakage Disorders v1.8 AARS Zornitza Stark edited their review of gene: AARS: Changed phenotypes: Trichothiodystrophy, MONDO:0018053, Trichothiodystrophy 8, nonphotosensitive, MIM# 619691
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
Ataxia - adult onset v0.146 RNF170 Zornitza Stark Marked gene: RNF170 as ready
Ataxia - adult onset v0.146 RNF170 Zornitza Stark Gene: rnf170 has been classified as Green List (High Evidence).
Ataxia - adult onset v0.146 RNF170 Zornitza Stark Phenotypes for gene: RNF170 were changed from Ataxia, sensory, 1, autosomal dominant; Autosomal dominant sensory ataxia 1, 608984 to Ataxia, sensory, 1, autosomal dominant, MIM# 608984
Ataxia - adult onset v0.145 RNF170 Zornitza Stark Publications for gene: RNF170 were set to
Ataxia - adult onset v0.144 RNF170 Zornitza Stark Mode of inheritance for gene: RNF170 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia - adult onset v0.143 RNF170 Zornitza Stark reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 32943585, 21115467; Phenotypes: Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - paediatric v1.23 RNF170 Zornitza Stark Phenotypes for gene: RNF170 were changed from Hereditary spastic paraplegia to Spastic paraplegia 85, autosomal recessive, MIM# 619686
Hereditary Spastic Paraplegia - paediatric v1.22 RNF170 Zornitza Stark reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 85, autosomal recessive, MIM# 619686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 ITGA8 Ain Roesley reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439109, 9054500; Phenotypes: Renal hypodysplasia/aplasia 1 MIM#191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1933 INPP5K Ain Roesley reviewed gene: INPP5K: Rating: AMBER; 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 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
Fetal anomalies v0.1933 LAMP2 Daniel Flanagan reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 25228319, 27165304, 16217705; Phenotypes: Danon disease (MIM#300257); 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 v0.10573 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
Fetal anomalies v0.1933 LAMB3 Daniel Flanagan reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 11023379, 7706760; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 LAMA3 Daniel Flanagan changed review comment from: Biallelic LAMA3 variants cause junctional epidermolysis bullosa, blistering is present at birth or shortly after.

LAMA3 also associated with Laryngoonychocutaneous syndrome, which seems to have ulceration in the first few months of life.; to: Biallelic LAMA3 variants cause epidermolysis bullosa, blistering is present at birth or shortly after.

LAMA3 also associated with Laryngoonychocutaneous syndrome, which appears to have ulceration and other features onset in the first few months of life.
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
Fetal anomalies v0.1933 IGFBP7 Ain Roesley edited their review of gene: IGFBP7: Changed publications: 34519236, 31730227, 32429784
Fetal anomalies v0.1933 LAMA3 Daniel Flanagan reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Epidermolysis bullosa, generalized atrophic benign (MIM#226650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 IGFBP7 Ain Roesley reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 614224; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1933 LAMA3 Daniel Flanagan Deleted their review
Fetal anomalies v0.1933 LAMA3 Daniel Flanagan reviewed gene: LAMA3: Rating: RED; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign (MIM#226650), Epidermolysis bullosa, junctional, Herlitz type (MIM#226700), Laryngoonychocutaneous syndrome (MIM#245660); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 KIT Daniel Flanagan reviewed gene: KIT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gastrointestinal stromal tumor, familial (MIM#606764), Mastocytosis, cutaneous (MIM#154800), Piebaldism (MIM#172800); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4422 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
Intellectual disability syndromic and non-syndromic v0.4421 VPS50 Zornitza Stark reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1417 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
Genetic Epilepsy v0.1416 VPS50 Zornitza Stark reviewed gene: VPS50: Rating: AMBER; Mode of pathogenicity: None; Publications: ; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.91 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
Microcephaly v1.90 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 v0.10573 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
Cholestasis v0.219 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
Cholestasis v0.218 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
Dystonia - complex v0.201 ATP5G3 Zornitza Stark Marked gene: ATP5G3 as ready
Dystonia - complex v0.201 ATP5G3 Zornitza Stark Gene: atp5g3 has been classified as Green List (High Evidence).
Dystonia - complex v0.201 ATP5G3 Zornitza Stark Classified gene: ATP5G3 as Green List (high evidence)
Dystonia - complex v0.201 ATP5G3 Zornitza Stark Gene: atp5g3 has been classified as Green List (High Evidence).
Dystonia - complex v0.200 ATP5G3 Zornitza Stark gene: ATP5G3 was added
gene: ATP5G3 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to 34636445; 34954817
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM# 619681
Review for gene: ATP5G3 was set to GREEN
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
Sources: Literature
Mendeliome v0.10572 ATP5G3 Zornitza Stark Tag new gene name tag was added to gene: ATP5G3.
Leukodystrophy - adult onset v0.96 AARS Zornitza Stark edited their review of gene: AARS: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - adult onset v0.96 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 to Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Leukodystrophy - adult onset v0.95 AARS Zornitza Stark Mode of inheritance for gene: AARS was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - adult onset v0.94 AARS Zornitza Stark changed review comment from: Limited evidence to link with leukodystrophy.
Sources: Expert list; to: Limited evidence to link with leukodystrophy. Single multigenerational family segregating a heterozygous missense variant.
Sources: Expert list
Leukodystrophy - adult onset v0.94 AARS Zornitza Stark edited their review of gene: AARS: Changed phenotypes: Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
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
Fetal anomalies v0.1933 KISS1R Daniel Flanagan reviewed gene: KISS1R: Rating: RED; 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
Fetal anomalies v0.1933 KCTD7 Daniel Flanagan changed review comment from: Biallelic KCTD7 variants reported in multile families with myoclonic epilepsy. No antenatally relevant features.; to: Biallelic KCTD7 variants reported in multile families with myoclonic epilepsy.

Two affected siblings had microcephaly by the age of 12 years and 10 years, but were normal at infancy.
Fetal anomalies v0.1933 KCTD7 Daniel Flanagan reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: None; Publications: 33767931, 33970744, 22693283, 22748208; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1933 IDH1 Ain Roesley reviewed gene: IDH1: Rating: RED; Mode of pathogenicity: None; Publications: 34393643, 34588213, 34624834, 34720940; Phenotypes: Ollier disease MONDO:0008145, Maffucci syndromeMONDO:0013808; Mode of inheritance: Other; Current diagnostic: yes
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
Fetal anomalies v0.1933 HPD Ain Roesley reviewed gene: HPD: Rating: RED; Mode of pathogenicity: None; Publications: 10942115, 17560158, 27604308; Phenotypes: Hawkinsinuria (MIM#140350), AD, Tyrosinemia type III (MIM#276710), AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; 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
Fetal anomalies v0.1933 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
Fetal anomalies v0.1933 KCNT1 Daniel Flanagan reviewed gene: KCNT1: Rating: RED; 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
Fetal anomalies v0.1933 KCNQ2 Daniel Flanagan reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: None; Publications: 31105003, 33134511; Phenotypes: Developmental and epileptic encephalopathy 7 (MIM#613720), Myokymia (MIM#121200), Seizures, benign neonatal, 1 (MIM#121200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1933 HMGA2 Ain Roesley reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32421827, 29655892, 25809938, 29453418, 29655892, 28796236; Phenotypes: Silver-Russel syndrome, MIM#618908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1933 KCNJ11 Daniel Flanagan reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: None; Publications: 15115830, 17327377; Phenotypes: Diabetes mellitus, transient neonatal 3 (MIM#610582), Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856); Mode of inheritance: None
Mendeliome v0.10570 CRACR2A Zornitza Stark Marked gene: CRACR2A as ready
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
Fetal anomalies v0.1933 IFT140 Zornitza Stark Marked gene: IFT140 as ready
Fetal anomalies v0.1933 IFT140 Zornitza Stark Gene: ift140 has been classified as Green List (High Evidence).
Fetal anomalies v0.1933 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from MAINZER-SALDINO SYNDROME to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
Fetal anomalies v0.1932 IFT140 Zornitza Stark Publications for gene: IFT140 were set to
Fetal anomalies v0.1931 IFT140 Zornitza Stark edited their review of gene: IFT140: Added comment: Note mono-allelic variants have been associated with renal cysts, but age of onset uncertain.; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 34890546
Renal Ciliopathies and Nephronophthisis v1.6 IFT140 Zornitza Stark Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant
Renal Ciliopathies and Nephronophthisis v1.5 IFT140 Zornitza Stark Publications for gene: IFT140 were set to 22503633; 23418020
Renal Ciliopathies and Nephronophthisis v1.4 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.3 IFT140 Zornitza Stark Deleted their comment
Renal Ciliopathies and Nephronophthisis v1.3 IFT140 Zornitza Stark changed review comment from: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature.; to: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature, with early progressive renal disease.
Renal Ciliopathies and Nephronophthisis v1.3 IFT140 Zornitza Stark edited their review of gene: IFT140: Added comment: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts. Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, where renal cysts are a feature.; Changed publications: 22503633, 23418020, 34890546; Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, MONDO:0009964, Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.22 IFT140 Zornitza Stark edited their review of gene: IFT140: Changed phenotypes: Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant, Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781
Ciliopathies v1.22 IFT140 Zornitza Stark 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, IFT140-associated, dominant
Ciliopathies v1.21 IFT140 Zornitza Stark Publications for gene: IFT140 were set to 22503633; 23418020; 28288023; 28724397; 26216056; 26968735
Ciliopathies v1.20 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ciliopathies v1.19 IFT140 Zornitza Stark edited their review of gene: IFT140: Added comment: PMID 34890546: Monoallelic variants described in 12 unrelated families with mild PKD associated with mild PKD with large cysts, limited kidney insufficiency, and few liver cysts.

Bilallelic variants associated with Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 34890546; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Intellectual disability syndromic and non-syndromic v0.4421 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770
Intellectual disability syndromic and non-syndromic v0.4420 PRDM13 Zornitza Stark Tag founder tag was added to gene: PRDM13.
Mendeliome v0.10567 PRDM13 Zornitza Stark Tag founder tag was added to gene: PRDM13.
Differences of Sex Development v0.234 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 Marked gene: PRDM13 as ready
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).
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence)
Combined Immunodeficiency v1.10 PI4KA Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.9 PI4KA Zornitza Stark gene: PI4KA was added
gene: PI4KA was added to Combined Immunodeficiency. Sources: Literature
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679
Review for gene: PI4KA was set to AMBER
Added comment: 8 families reported with biallelic variants in this gene (Salter et al 2021). Affected individuals presented with CNS abnormalities but also with immune deficits (2 individuals from separate families) and intestinal disease (multiple families, including IBD, and 1 family with multiple intestinal atresia).
Sources: Literature
Fetal anomalies v0.1931 PI4KA Zornitza Stark Marked gene: PI4KA as ready
Fetal anomalies v0.1931 PI4KA Zornitza Stark Gene: pi4ka has been classified as Green List (High Evidence).
Fetal anomalies v0.1931 PI4KA Zornitza Stark Classified gene: PI4KA as Green List (high evidence)
Fetal anomalies v0.1931 PI4KA Zornitza Stark Gene: pi4ka has been classified as Green List (High Evidence).
Fetal anomalies v0.1930 PI4KA Zornitza Stark gene: PI4KA was added
gene: PI4KA was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679
Review for gene: PI4KA was set to GREEN
Added comment: 8 families reported with CNS abnormalities.
Sources: Expert Review
Mendeliome v0.10564 PI4KA Zornitza Stark Publications for gene: PI4KA were set to 25855803; 34415322
Mitochondrial disease v0.685 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 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
Differences of Sex Development v0.234 PRDM13 Seb Lunke Marked gene: PRDM13 as ready
Differences of Sex Development v0.234 PRDM13 Seb Lunke Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.234 PRDM13 Seb Lunke Classified gene: PRDM13 as Amber List (moderate evidence)
Differences of Sex Development v0.234 PRDM13 Seb Lunke Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.233 PRDM13 Seb Lunke gene: PRDM13 was added
gene: PRDM13 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 34730112
Phenotypes for gene: PRDM13 were set to congenital hypogonadotropic hypogonadism, MONDO:0015770
Review for gene: PRDM13 was set to AMBER
Added comment: Recessive disease causing ID and DSD described in three supposedly unrelated families (2 consanguine), 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.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4420 CCND2 Alison Yeung Marked gene: CCND2 as ready
Intellectual disability syndromic and non-syndromic v0.4420 CCND2 Alison Yeung Gene: ccnd2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4420 CCND2 Alison Yeung Added comment: Comment on phenotypes: Distal variants associated with Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

Proximal variants associated with reciprocal phenotype of mild neurodevelopment disorder with microcephaly and short stature
Intellectual disability syndromic and non-syndromic v0.4420 CCND2 Alison Yeung Phenotypes for gene: CCND2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938; Neurodevelopmental disorder, CCND2-related MONDO: 0700092; Microcephaly, MONDO: 0001149
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
Intellectual disability syndromic and non-syndromic v0.4419 CCND2 Alison Yeung Mode of inheritance for gene: CCND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10561 CCND2 Alison Yeung Marked gene: CCND2 as ready
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
Early-onset Dementia v0.153 PPIA Seb Lunke Marked gene: PPIA as ready
Early-onset Dementia v0.153 PPIA Seb Lunke Gene: ppia has been classified as Red List (Low Evidence).
Early-onset Dementia v0.153 PPIA Seb Lunke Phenotypes for gene: PPIA were changed from amyotrophic lateral sclerosis, MONDO:0004976 to amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated
Early-onset Dementia v0.152 PPIA Seb Lunke gene: PPIA was added
gene: PPIA was added to Early-onset Dementia. Sources: Literature
Mode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPIA were set to 34972208
Phenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976
Review for gene: PPIA was set to RED
Added comment: Sources: Literature
Mendeliome v0.10560 CCND2 Alison Yeung Mode of inheritance for gene: CCND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.90 CCND2 Alison Yeung Marked gene: CCND2 as ready
Microcephaly v1.90 CCND2 Alison Yeung Gene: ccnd2 has been classified as Green List (High Evidence).
Microcephaly v1.90 CCND2 Alison Yeung Classified gene: CCND2 as Green List (high evidence)
Microcephaly v1.90 CCND2 Alison Yeung Gene: ccnd2 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.8 CRACR2A Seb Lunke Marked gene: CRACR2A as ready
Combined Immunodeficiency v1.8 CRACR2A Seb Lunke Gene: cracr2a has been classified as Red List (Low Evidence).
Combined Immunodeficiency v1.8 CRACR2A Seb Lunke Phenotypes for gene: CRACR2A were changed from HP:0005387; late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; late onset combined immunodeficiency
Renal Macrocystic Disease v0.42 IFT140 Alison Yeung Marked gene: IFT140 as ready
Renal Macrocystic Disease v0.42 IFT140 Alison Yeung Gene: ift140 has been classified as Green List (High Evidence).
Renal Macrocystic Disease v0.42 IFT140 Alison Yeung Classified gene: IFT140 as Green List (high evidence)
Renal Macrocystic Disease v0.42 IFT140 Alison Yeung Gene: ift140 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.7 CRACR2A Seb Lunke Classified gene: CRACR2A as Red List (low evidence)
Combined Immunodeficiency v1.7 CRACR2A Seb Lunke Gene: cracr2a has been classified as Red List (Low Evidence).
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
Ciliopathies v1.19 TOPORS Seb Lunke Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31 (MIM#609923) to ciliopathy, MONDO:0005308, TOPORS-associated; postaxial polydactyly, MONDO:0020927, TOPORS-related; multiple lingual hamartomas
Ciliopathies v1.18 TOPORS Seb Lunke Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552
Intellectual disability syndromic and non-syndromic v0.4418 NAA10 Alison Yeung Marked gene: NAA10 as ready
Intellectual disability syndromic and non-syndromic v0.4418 NAA10 Alison Yeung Gene: naa10 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.6 CRACR2A Dean Phelan gene: CRACR2A was added
gene: CRACR2A was added to Combined Immunodeficiency. 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 HP:0005387; late onset combined immunodeficiency
Review for gene: CRACR2A was set to RED
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
Ciliopathies v1.17 TOPORS Seb Lunke Mode of inheritance for gene: TOPORS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.16 TOPORS Seb Lunke Classified gene: TOPORS as Amber List (moderate evidence)
Ciliopathies v1.16 TOPORS Seb Lunke Added comment: Comment on list classification: Amber for recessive ciliopathy
Ciliopathies v1.16 TOPORS Seb Lunke Gene: topors has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10558 PPIA Seb Lunke Marked gene: PPIA as ready
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
Ciliopathies v1.15 TOPORS Dean Phelan reviewed gene: TOPORS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:34132027; Phenotypes: MONDO:0005308, ciliopathy, postaxial polydactyly, multiple lingual hamartomas, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10558 RPL10L Alison Yeung Marked gene: RPL10L as ready
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 Marked gene: DNHD1 as ready
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).
Craniosynostosis v1.32 CHD7 Seb Lunke Marked gene: CHD7 as ready
Craniosynostosis v1.32 CHD7 Seb Lunke Gene: chd7 has been classified as Green List (High Evidence).
Craniosynostosis v1.32 CHD7 Seb Lunke Phenotypes for gene: CHD7 were changed from CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures to CHARGE syndrome, MIM#214800; bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated
Craniosynostosis v1.31 CHD7 Seb Lunke Classified gene: CHD7 as Green List (high evidence)
Craniosynostosis v1.31 CHD7 Seb Lunke Gene: chd7 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Marked gene: TLR8 as ready
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Gene: tlr8 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Phenotypes for gene: TLR8 were changed from Severe autoimmune hemolytic anemia and autoinflammation to periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated
Autoinflammatory Disorders v0.128 TLR8 Seb Lunke Classified gene: TLR8 as Red List (low evidence)
Autoinflammatory Disorders v0.128 TLR8 Seb Lunke Gene: tlr8 has been classified as Red List (Low 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
Intellectual disability syndromic and non-syndromic v0.4418 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
Intellectual disability syndromic and non-syndromic v0.4418 NAA10 Ain Roesley reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34075687; Phenotypes: syndromic intellectual disability MONDO:0000508; 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 v0.10556 SLC35F1 Seb Lunke Marked gene: SLC35F1 as ready
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
Intellectual disability syndromic and non-syndromic v0.4418 PRKAR1B Paul De Fazio Deleted their review
Craniosynostosis v1.30 CHD7 Ee Ming Wong changed review comment from: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature; to: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4418 PRDM13 Alison Yeung Marked gene: PRDM13 as ready
Intellectual disability syndromic and non-syndromic v0.4418 PRDM13 Alison Yeung Gene: prdm13 has been classified as Amber List (Moderate Evidence).
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).
Intellectual disability syndromic and non-syndromic v0.4418 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
Craniosynostosis v1.30 CHD7 Ee Ming Wong changed review comment from: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature; to: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature
Mendeliome v0.10554 MYH1 Seb Lunke Marked gene: MYH1 as ready
Mendeliome v0.10554 MYH1 Seb Lunke Gene: myh1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres reviewed gene: TLR8: Rating: RED; Mode of pathogenicity: None; Publications: 34981838; Phenotypes: Severe autoimmune hemolytic anemia and autoinflammation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10554 CRACR2A Alison Yeung Marked gene: CRACR2A as ready
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
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres Deleted their review
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).
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres changed review comment from: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic 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.
Sources: Literature; to: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic 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.
Sources: Literature
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).
Microcephaly v1.89 CCND2 Alison Yeung gene: CCND2 was added
gene: CCND2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCND2 were set to 34087052
Phenotypes for gene: CCND2 were set to Neurodevelopmental disorder, CCND2-related MONDO# 0700092; Microcephaly, MONDO# 0001149
Review for gene: CCND2 was set to GREEN
Added comment: Novel phenotype of microcephaly and mild developmental delay described in three unrelated families. Variants associated with this phenotype located in the proximal region of the gene.

Variants in distal region of gene associated with a reciprocal phenotype of macrocephaly/megalencephaly with severe cortical malformation.
Sources: Literature
Craniosynostosis v1.30 CHD7 Ee Ming Wong gene: CHD7 was added
gene: CHD7 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD7 were set to PMID: 33844462; 30498854; 33288889
Phenotypes for gene: CHD7 were set to CHARGE syndrome; bi-coronal craniosynostosis; premature synostosis of the left lambdoid and squamous sutures
Penetrance for gene: CHD7 were set to Complete
Review for gene: CHD7 was set to GREEN
gene: CHD7 was marked as current diagnostic
Added comment: - Siakallis et al (2019): 18-month old boy diagnosed with CHARGE syndrome and subsequently diagnosed with bicoronal craniosynostosis, premature synostosis of the left lambdoid and squamous sutures resulting in a turricephalic appearance of the cranial vault. He was found to carry a CHD7 stopgain variant.
- Tonne et al (2020): De novo CHD7 frameshift variant identified in individual with CHARGE syndrome and late occurrence of craniosynostosis at 5 years.
- De Luca et al (2021): De novo CHD7 stopgain variant identified in one newborn with CHARGE syndrome with bi-coronal craniosynostosis. Authors considered the diagnosis of craniosynostosis to be potentially independant of CHARGE syndrome.
Sources: Literature
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres gene: TLR8 was added
gene: TLR8 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 34981838
Phenotypes for gene: TLR8 were set to Severe autoimmune hemolytic anemia and autoinflammation
Review for gene: TLR8 was set to AMBER
Added comment: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic 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.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4418 PRDM13 Seb Lunke Phenotypes for gene: PRDM13 were changed from intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770
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
Intellectual disability syndromic and non-syndromic v0.4417 PRDM13 Seb Lunke Classified gene: PRDM13 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4417 PRDM13 Seb Lunke Added comment: Comment on list classification: Potential founder variant?
Intellectual disability syndromic and non-syndromic v0.4417 PRDM13 Seb Lunke Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4416 PRDM13 Seb Lunke Tag founder was removed from gene: PRDM13.
Intellectual disability syndromic and non-syndromic v0.4416 PRDM13 Seb Lunke gene: PRDM13 was added
gene: PRDM13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
founder tags were added to gene: PRDM13.
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 34730112
Phenotypes for gene: PRDM13 were set to intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia
Review for gene: PRDM13 was set to AMBER
Added comment: Recessive disease causing ID and DSD described in three supposedly unrelated families (2 consanguine), 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.
Sources: Literature
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
Renal Macrocystic Disease v0.41 IFT140 Alison Yeung gene: IFT140 was added
gene: IFT140 was added to Renal Macrocystic Disease. Sources: Literature
Mode of inheritance for gene: IFT140 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IFT140 were set to 34890546
Phenotypes for gene: IFT140 were set to Cystic Kidney Disease, MONDO# 0002473
Review for gene: IFT140 was set to GREEN
Added comment: 12 unrelated families reported with monoallelic variants causing mild polycystic kidney disease with large cysts, limited kidney insufficiency, and few liver cysts.
Sources: Literature
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
Fetal anomalies v0.1929 GNAS Zornitza Stark Marked gene: GNAS as ready
Fetal anomalies v0.1929 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Fetal anomalies v0.1929 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from ALBRIGHT HEREDITARY OSTEODYSTROPHY; GNAS HYPERFUNCTION; PSEUDOHYPOPARATHYROIDISM TYPE 1B; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA to Pseudohypoparathyroidism Ia, MIM# 103580
Fetal anomalies v0.1928 GNAS Zornitza Stark Publications for gene: GNAS were set to
Fetal anomalies v0.1927 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1926 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
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
Fetal anomalies v0.1926 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Fetal anomalies v0.1926 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1926 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from EPILEPTIC ENCEPHALOPATHY to Epileptic encephalopathy, early infantile, 17, MIM#615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493
Fetal anomalies v0.1925 GNAO1 Zornitza Stark Publications for gene: GNAO1 were set to
Fetal anomalies v0.1924 GNAO1 Zornitza Stark Mode of inheritance for gene: GNAO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1923 GNAO1 Zornitza Stark changed review comment from: Loss of function mutations (PTCs and missense) cause EEIE, and gain of function mutations (missense, inframe deletion) cause NDIM. Almost all reports are de novo, rare parental mosaicism also reported (PMID: 30682224); to: Loss of function mutations (PTCs and missense) cause EEIE, and gain of function mutations (missense, inframe deletion) cause NDIM. Almost all reports are de novo, rare parental mosaicism also reported (PMID: 30682224)

Microcephaly reported in some individuals.
Fetal anomalies v0.1923 GNAO1 Zornitza Stark edited their review of gene: GNAO1: Changed phenotypes: Epileptic encephalopathy, early infantile, 17, MIM#615473, Neurodevelopmental disorder with involuntary movements, MIM# 617493
Mendeliome v0.10551 PAK2 Zornitza Stark Marked gene: PAK2 as ready
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
Mitochondrial disease v0.685 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
Mitochondrial disease v0.684 OGDH Zornitza Stark edited their review of gene: OGDH: Changed phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740, Developmental delay, ataxia, seizure, raised lactate
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
Fetal anomalies v0.1923 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Fetal anomalies v0.1923 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Fetal anomalies v0.1923 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
Fetal anomalies v0.1922 GMPPB Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, severe end of the spectrum can present with congenital anomalies.
Fetal anomalies v0.1922 GMPPB Zornitza Stark edited their review of gene: GMPPB: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350
Fetal anomalies v0.1922 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Fetal anomalies v0.1922 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1922 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199
Fetal anomalies v0.1921 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Fetal anomalies v0.1920 GLIS3 Zornitza Stark changed review comment from: Significant proportion of affected children described as having developmental delay.; to: Renal cystic dysplasia is a feature.
Fetal anomalies v0.1920 GLI3 Zornitza Stark Marked gene: GLI3 as ready
Fetal anomalies v0.1920 GLI3 Zornitza Stark Gene: gli3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1920 GLI3 Zornitza Stark Phenotypes for gene: GLI3 were changed from GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV to Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly
Fetal anomalies v0.1919 GLI3 Zornitza Stark Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1918 GLI3 Zornitza Stark changed review comment from: Not a ciliopathy, but relatively common condition with phenotypic overlap.
Sources: Expert list; to: Limb anomalies would be identifiable prenatally.
Sources: Expert list
Fetal anomalies v0.1918 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Fetal anomalies v0.1918 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1918 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE to Lethal congenital contracture syndrome 1, MIM# 253310
Fetal anomalies v0.1917 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Fetal anomalies v0.1916 GLDN Zornitza Stark Marked gene: GLDN as ready
Fetal anomalies v0.1916 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Fetal anomalies v0.1916 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from Lethal arthroogryposis to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Fetal anomalies v0.1915 GLDN Zornitza Stark Publications for gene: GLDN were set to
Fetal anomalies v0.1914 GJA8 Zornitza Stark Marked gene: GJA8 as ready
Fetal anomalies v0.1914 GJA8 Zornitza Stark Gene: gja8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1914 GJA8 Zornitza Stark Phenotypes for gene: GJA8 were changed from CATARACT ZONULAR PULVERULENT TYPE 1; CATARACT-MICROCORNEA SYNDROME to Cataract 1, multiple types, MIM# 116200; Microphthalmia
Fetal anomalies v0.1913 GJA8 Zornitza Stark Publications for gene: GJA8 were set to
Fetal anomalies v0.1912 GJA8 Zornitza Stark Mode of inheritance for gene: GJA8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1911 GJA1 Zornitza Stark changed review comment from: Gene is associated with a large number of phenotypes, but ID is not a typical feature of any of these conditions.; to: Gene is associated with a large number of fatally-relevant phenotypes.
Fetal anomalies v0.1911 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Fetal anomalies v0.1911 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1911 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME; AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Syndactyly, type III, MIM# 186100
Fetal anomalies v0.1910 GJA1 Zornitza Stark edited their review of gene: GJA1: Changed phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Syndactyly, type III, MIM# 186100
Fetal anomalies v0.1910 GJA1 Zornitza Stark edited their review of gene: GJA1: Changed phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100
Fetal anomalies v0.1910 GJA1 Zornitza Stark edited their review of gene: GJA1: Changed rating: GREEN
Fetal anomalies v0.1910 GDF5 Zornitza Stark Marked gene: GDF5 as ready
Fetal anomalies v0.1910 GDF5 Zornitza Stark Gene: gdf5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1910 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from MULTIPLE SYNOSTOSES SYNDROME TYPE 2; ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE; BRACHYDACTYLY TYPE A1; SYMPHALANGISM PROXIMAL SYNDROME; DU PAN SYNDROME; BRACHYDACTYLY TYPE C; ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE; BRACHYDACTYLY TYPE A2 to Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900)
Fetal anomalies v0.1909 GDF5 Zornitza Stark Publications for gene: GDF5 were set to
Fetal anomalies v0.1908 GDF5 Zornitza Stark Mode of inheritance for gene: GDF5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 Marked gene: SLC27A4 as ready
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
Fetal anomalies v0.1907 EDN1 Zornitza Stark Marked gene: EDN1 as ready
Fetal anomalies v0.1907 EDN1 Zornitza Stark Gene: edn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1907 EDN1 Zornitza Stark Phenotypes for gene: EDN1 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 3, MIM# 615706
Fetal anomalies v0.1906 EDN1 Zornitza Stark Mode of inheritance for gene: EDN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1905 SLC25A24 Zornitza Stark Publications for gene: SLC25A24 were set to
Fetal anomalies v0.1904 SLC25A24 Zornitza Stark Mode of inheritance for gene: SLC25A24 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1903 SLC25A24 Zornitza Stark edited their review of gene: SLC25A24: Changed rating: GREEN
Fetal anomalies v0.1903 SLC25A24 Zornitza Stark Deleted their comment
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
Macrocephaly_Megalencephaly v0.99 WDFY3 Zornitza Stark Marked gene: WDFY3 as ready
Macrocephaly_Megalencephaly v0.99 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Amber List (Moderate Evidence).
Macrocephaly_Megalencephaly v0.99 WDFY3 Zornitza Stark Classified gene: WDFY3 as Amber List (moderate evidence)
Macrocephaly_Megalencephaly v0.99 WDFY3 Zornitza Stark Gene: wdfy3 has been classified as Amber List (Moderate Evidence).
Ataxia - paediatric v0.303 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Ataxia - paediatric v0.303 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.303 GEMIN5 Zornitza Stark Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Cerebellar and Pontocerebellar Hypoplasia v1.29 GEMIN5 Zornitza Stark Marked gene: GEMIN5 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.29 GEMIN5 Zornitza Stark Gene: gemin5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.29 GEMIN5 Zornitza Stark Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Fetal anomalies v0.1903 SLC25A20 Zornitza Stark Marked gene: SLC25A20 as ready
Fetal anomalies v0.1903 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1903 SLC25A20 Zornitza Stark Phenotypes for gene: SLC25A20 were changed from CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY to Carnitine-acylcarnitine translocase deficiency, MIM#212138
Fetal anomalies v0.1902 SLC25A20 Zornitza Stark Publications for gene: SLC25A20 were set to
Fetal anomalies v0.1901 SLC25A20 Zornitza Stark Classified gene: SLC25A20 as Amber List (moderate evidence)
Fetal anomalies v0.1901 SLC25A20 Zornitza Stark Gene: slc25a20 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1900 SLC25A20 Zornitza Stark changed review comment from: Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.; to: Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.

Unclear if can present antenatally.
Fetal anomalies v0.1900 SLC25A20 Zornitza Stark edited their review of gene: SLC25A20: Changed rating: AMBER; Changed publications: 34784499, 32337051
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
Fetal anomalies v0.1900 SLC25A20 Zornitza Stark edited their review of gene: SLC25A20: Added comment: Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.; Changed rating: GREEN
Fetal anomalies v0.1900 SLC27A4 Seb Lunke Marked gene: SLC27A4 as ready
Fetal anomalies v0.1900 SLC27A4 Seb Lunke Gene: slc27a4 has been classified as Green List (High Evidence).
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
Fetal anomalies v0.1900 SLC27A4 Seb Lunke Phenotypes for gene: SLC27A4 were changed from ICHTHYOSIS PREMATURITY SYNDROME to Ichthyosis prematurity syndrome, MIM#608649
Fetal anomalies v0.1899 SLC27A4 Seb Lunke Publications for gene: SLC27A4 were set to
Fetal anomalies v0.1898 SLC25A20 Zornitza Stark Deleted their comment
Fetal anomalies v0.1898 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
Fetal anomalies v0.1898 TRPV4 Zornitza Stark Phenotypes for gene: TRPV4 were changed from METATROPIC DYSPLASIA; SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE to Brachyolmia type 3, MIM# 113500; Metatropic dysplasia, MIM# 156530; SED, Maroteaux type, MIM# 184095; Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252
Fetal anomalies v0.1897 TRPV4 Zornitza Stark Mode of inheritance for gene: TRPV4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1896 TRPV6 Zornitza Stark commented on gene: TRPV6: The bi-allleic disorder is pertinent to this panel.
Fetal anomalies v0.1896 TRPV6 Zornitza Stark Phenotypes for gene: TRPV6 were changed from Hyperparathyroidism, transient neonatal, 618188; Transient Neonatal Hyperparathyroidism to Hyperparathyroidism, transient neonatal, MIM#618188
Fetal anomalies v0.1895 TRPV6 Zornitza Stark Publications for gene: TRPV6 were set to 29861107
Fetal anomalies v0.1894 TRPV6 Zornitza Stark Mode of inheritance for gene: TRPV6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1893 TRPV6 Zornitza Stark reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1893 TSC1 Zornitza Stark Phenotypes for gene: TSC1 were changed from TUBEROUS SCLEROSIS TYPE 1 to Tuberous sclerosis-1, MIM# 191100
Fetal anomalies v0.1892 TSC1 Zornitza Stark Mode of inheritance for gene: TSC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1891 TSC2 Zornitza Stark Phenotypes for gene: TSC2 were changed from TUBEROUS SCLEROSIS TYPE 2; LYMPHANGIOLEIOMYOMATOSIS to Tuberous sclerosis-2, MIM# 613254
Fetal anomalies v0.1890 TSC2 Zornitza Stark Mode of inheritance for gene: TSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1889 EDN1 Belinda Chong reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23315542 23913798 24268655; Phenotypes: Auriculocondylar syndrome 3, MIM# 615706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1889 SLC26A3 Seb Lunke Marked gene: SLC26A3 as ready
Fetal anomalies v0.1889 SLC26A3 Seb Lunke Gene: slc26a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1889 SLC26A3 Seb Lunke Phenotypes for gene: SLC26A3 were changed from Chloride diarrhea, congenital, Finnish type 214700 to Diarrhea 1, secretory chloride, congenital, MIM#214700
Fetal anomalies v0.1888 SLC26A3 Seb Lunke Publications for gene: SLC26A3 were set to
Fetal anomalies v0.1887 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from TRICHOHEPATOENTERIC SYNDROME to Trichohepatoenteric syndrome 1, MIM# 222470
Fetal anomalies v0.1886 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Fetal anomalies v0.1885 SLC26A3 Seb Lunke reviewed gene: SLC26A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31325522, 31477378, 21394828; Phenotypes: Diarrhea 1, secretory chloride, congenital, MIM#214700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1885 TTC7A Zornitza Stark Phenotypes for gene: TTC7A were changed from INTESTINAL ATRESIA, MULTIPLE to Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150
Fetal anomalies v0.1884 TTC7A Zornitza Stark Publications for gene: TTC7A were set to
Mendeliome v0.10542 SMAD6 Zornitza Stark Marked gene: SMAD6 as ready
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
Skeletal dysplasia v0.152 SMAD6 Zornitza Stark Marked gene: SMAD6 as ready
Skeletal dysplasia v0.152 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.152 SMAD6 Zornitza Stark Phenotypes for gene: SMAD6 were changed from 179300 to {Radioulnar synostosis, nonsyndromic} 179300
Mendeliome v0.10539 SLC26A2 Seb Lunke Marked gene: SLC26A2 as ready
Mendeliome v0.10539 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.151 SMAD6 Zornitza Stark Classified gene: SMAD6 as Green List (high evidence)
Skeletal dysplasia v0.151 SMAD6 Zornitza Stark Gene: smad6 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
Fetal anomalies v0.1883 SLC26A2 Seb Lunke Marked gene: SLC26A2 as ready
Fetal anomalies v0.1883 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1883 SLC26A2 Seb Lunke Phenotypes for gene: SLC26A2 were changed from ACHONDROGENESIS TYPE 1B; DIASTROPHIC DYSPLASIA; ATELOSTEOGENESIS TYPE 2; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 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
Fetal anomalies v0.1882 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
Skeletal dysplasia v0.150 SMAD6 Zornitza Stark reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radio-ulnar synostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1881 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: None
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
Fetal anomalies v0.1881 TUBA1A Zornitza Stark Phenotypes for gene: TUBA1A were changed from INTELLECTUAL DISABILITY; LISSENCEPHALY TYPE 3 to Lissencephaly 3, MIM# 611603
Fetal anomalies v0.1880 TUBA1A Zornitza Stark Publications for gene: TUBA1A were set to
Fetal anomalies v0.1879 TUBA1A Zornitza Stark Mode of inheritance for gene: TUBA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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).
Fetal anomalies v0.1878 TUBA8 Zornitza Stark Phenotypes for gene: TUBA8 were changed from Cortical dysplasia, complex, with other brain malformations 8, 613180; POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA to Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180
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
Fetal anomalies v0.1877 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM to Leukodystrophy, hypomyelinating, 6, MIM# 602662
Fetal anomalies v0.1876 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
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
Fetal anomalies v0.1875 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746 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 v0.10530 SLC25A24 Seb Lunke Marked gene: SLC25A24 as ready
Mendeliome v0.10530 SLC25A24 Seb Lunke Gene: slc25a24 has been classified as Green List (High Evidence).
Fetal anomalies v0.1874 SLC25A24 Seb Lunke Marked gene: SLC25A24 as ready
Fetal anomalies v0.1874 SLC25A24 Seb Lunke Gene: slc25a24 has been classified as Green List (High Evidence).
Fetal anomalies v0.1874 TWIST1 Zornitza Stark Tag SV/CNV tag was added to gene: TWIST1.
Tag 5'UTR tag was added to gene: TWIST1.
Fetal anomalies v0.1874 SLC25A24 Seb Lunke Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, MIM#612289
Fetal anomalies v0.1873 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from SAETHRE-CHOTZEN SYNDROME; CRANIOSYNOSTOSIS, TYPE 1 to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746
Mendeliome v0.10530 SLC25A24 Seb Lunke Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, MIM#612289
Fetal anomalies v0.1872 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Fetal anomalies v0.1871 SLC25A24 Seb Lunke reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100093, 29100094, 29100094, 31775791, 32732226, 32860237; Phenotypes: FONTAINE PROGEROID SYNDROME, MIM#612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1871 UROS Zornitza Stark Phenotypes for gene: UROS were changed from CONGENITAL ERYTHROPOIETIC PORPHYRIA to Porphyria, congenital erythropoietic, MIM# 263700
Fetal anomalies v0.1870 UROS Zornitza Stark Publications for gene: UROS were set to
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
Macrocephaly_Megalencephaly v0.98 WDFY3 Ain Roesley gene: WDFY3 was added
gene: WDFY3 was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDFY3 were set to 31327001
Phenotypes for gene: WDFY3 were set to Neurodevelopmental disorder with macrocephaly
Penetrance for gene: WDFY3 were set to unknown
Review for gene: WDFY3 was set to AMBER
gene: WDFY3 was marked as current diagnostic
Added comment: De novo (And 2x inherited from similarly affected parent) variants reported in individuals described to have macrocephaly, mostly PTCs and missense not in the PH domain (where microcephaly variants are reported) .
But OFC doesn't sound very macro (5/9 >97th percentile and 4/9 between 87th and 95th percentiles).

Het +/- mice displayed megalencephaly
Sources: Literature
Ataxia - paediatric v0.302 GEMIN5 Chirag Patel Classified gene: GEMIN5 as Green List (high evidence)
Ataxia - paediatric v0.302 GEMIN5 Chirag Patel Gene: gemin5 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.301 GEMIN5 Chirag Patel gene: GEMIN5 was added
gene: GEMIN5 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported by Kour et al (2021).

Saida et al (2021) report compound heterozygous GEMIN5 variants in 2 individuals with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype.
Sources: Literature
Cerebellar and Pontocerebellar Hypoplasia v1.28 GEMIN5 Chirag Patel Classified gene: GEMIN5 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.28 GEMIN5 Chirag Patel Gene: gemin5 has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.27 GEMIN5 Chirag Patel gene: GEMIN5 was added
gene: GEMIN5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to PMID: 34569062, 33963192
Phenotypes for gene: GEMIN5 were set to Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333
Review for gene: GEMIN5 was set to GREEN
Added comment: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy. 30 individuals from 22 unrelated families reported by Kour et al (2021).

Saida et al (2021) report compound heterozygous GEMIN5 variants in 2 individuals with cerebellar atrophy/hypoplasia. Three novel truncating variants and one previously reported missense variant were identified. Western blotting analysis using lymphoblastoid cell lines derived from both affected individuals showed significantly reduced levels of GEMIN5 protein. Zebrafish model for null variants p.(Arg733Thrfs*6) and p.(Ala1305Leufs*14) exhibited complete lethality at 2 weeks and recapitulated a distinct dysplastic phenotype.
Sources: Literature
Fetal anomalies v0.1869 SLC25A20 Seb Lunke reviewed gene: SLC25A20: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carnitine-acylcarnitine translocase deficiency, MIM#212138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1869 TRPV4 Alison Yeung Marked gene: TRPV4 as ready
Fetal anomalies v0.1869 TRPV4 Alison Yeung Gene: trpv4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1869 TRPV4 Alison Yeung reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachyolmia type 3, MIM# 113500, Metatropic dysplasia, MIM# 156530, SED, Maroteaux type, MIM# 184095, Spondylometaphyseal dysplasia, Kozlowski type, MIM# 184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1869 TRPV6 Alison Yeung Marked gene: TRPV6 as ready
Fetal anomalies v0.1869 TRPV6 Alison Yeung Gene: trpv6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1869 TRPV6 Alison Yeung Mode of inheritance for gene: TRPV6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1869 TRPV6 Alison Yeung Mode of inheritance for gene: TRPV6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1868 TRPV6 Alison Yeung reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383311, 31930989, 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188, Early onset chronic pancreatitis susceptibility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1868 TSC1 Alison Yeung Marked gene: TSC1 as ready
Fetal anomalies v0.1868 TSC1 Alison Yeung Gene: tsc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1868 TSC1 Alison Yeung reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1868 TSC2 Alison Yeung Marked gene: TSC2 as ready
Fetal anomalies v0.1868 TSC2 Alison Yeung Gene: tsc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1868 TSC2 Alison Yeung reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2, MIM# 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly v0.43 TSC2 Alison Yeung commented on gene: TSC2
Fetal anomalies v0.1868 TTC37 Alison Yeung Marked gene: TTC37 as ready
Fetal anomalies v0.1868 TTC37 Alison Yeung Gene: ttc37 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1868 TTC37 Alison Yeung Classified gene: TTC37 as Red List (low evidence)
Fetal anomalies v0.1868 TTC37 Alison Yeung Gene: ttc37 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1867 TTC37 Alison Yeung reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1867 TTC7A Alison Yeung Marked gene: TTC7A as ready
Fetal anomalies v0.1867 TTC7A Alison Yeung Gene: ttc7a has been classified as Green List (High Evidence).
Fetal anomalies v0.1867 TTC7A Alison Yeung reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24417819, 24292712, 23830146, 29174094, 31743734; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Skeletal dysplasia v0.150 SMAD6 Chris Richmond gene: SMAD6 was added
gene: SMAD6 was added to Skeletal dysplasia. Sources: Expert Review
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 31138930
Phenotypes for gene: SMAD6 were set to 179300
Penetrance for gene: SMAD6 were set to Incomplete
Review for gene: SMAD6 was set to GREEN
gene: SMAD6 was marked as current diagnostic
Added comment: Yang et al. (2019) performed exome sequencing on 117 patients with sporadic RUS and found significant enrichment for loss-of-function variants in the SMAD6 gene. Identified 22 SMAD6 rare variants (with a minor allele frequency of less than 0.0001) that occurred in 22 nonsyndromic RUS patients. Logistic regression showed that SMAD6 loss-of-function variants were significantly associated with increased risk of nonsyndromic RUS (OR 430; 95% CI 237.5-780.1; p less than 0.000001). Some inherited from unaffected parents.
Sources: Expert Review
Fetal anomalies v0.1867 TUBA1A Alison Yeung Marked gene: TUBA1A as ready
Fetal anomalies v0.1867 TUBA1A Alison Yeung Gene: tuba1a has been classified as Green List (High Evidence).
Fetal anomalies v0.1867 TUBA1A Alison Yeung reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30517687, 20466733; Phenotypes: Lissencephaly 3, MIM# 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.10527 ARHGEF10 Zornitza Stark Phenotypes for gene: ARHGEF10 were changed from to Slowed nerve conduction velocity, MIM# 608236
Fetal anomalies v0.1867 TUBA8 Alison Yeung Classified gene: TUBA8 as Red List (low evidence)
Fetal anomalies v0.1867 TUBA8 Alison Yeung Gene: tuba8 has been classified as Red List (Low Evidence).
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
Fetal anomalies v0.1866 TUBA8 Alison Yeung Marked gene: TUBA8 as ready
Fetal anomalies v0.1866 TUBA8 Alison Yeung Gene: tuba8 has been classified as Green List (High Evidence).
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
Fetal anomalies v0.1866 TUBA8 Alison Yeung reviewed gene: TUBA8: Rating: RED; Mode of pathogenicity: None; Publications: 28388629; Phenotypes: ; Mode of inheritance: Unknown
Fetal anomalies v0.1866 TUBB4A Alison Yeung Marked gene: TUBB4A as ready
Fetal anomalies v0.1866 TUBB4A Alison Yeung Gene: tubb4a has been classified as Green List (High Evidence).
Fetal anomalies v0.1866 TUBB4A Alison Yeung reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27809427; Phenotypes: Leukodystrophy, hypomyelinating, 6, MIM# 602662; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.10523 MBNL1 Zornitza Stark Marked gene: MBNL1 as ready
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
Fetal anomalies v0.1866 TWIST1 Alison Yeung Marked gene: TWIST1 as ready
Fetal anomalies v0.1866 TWIST1 Alison Yeung Gene: twist1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1866 TWIST1 Alison Yeung 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Fetal anomalies v0.1866 UROS Alison Yeung Marked gene: UROS as ready
Fetal anomalies v0.1866 UROS Alison Yeung Gene: uros has been classified as Red List (Low Evidence).
Fetal anomalies v0.1866 UROS Alison Yeung Classified gene: UROS as Red List (low evidence)
Fetal anomalies v0.1866 UROS Alison Yeung Added comment: Comment on list classification: fetal anomalies not a typical finding.
Fetal anomalies v0.1866 UROS Alison Yeung Gene: uros has been classified as Red List (Low Evidence).
Fetal anomalies v0.1865 UROS Alison Yeung reviewed gene: UROS: Rating: RED; Mode of pathogenicity: None; Publications: 24027798, 12533808; Phenotypes: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (MIM #263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10522 PDK3 Zornitza Stark Marked gene: PDK3 as ready
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 Marked gene: PRDM9 as ready
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 Marked gene: DZIP1L as ready
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
Fetal anomalies v0.1865 DZIP1L Zornitza Stark Marked gene: DZIP1L as ready
Fetal anomalies v0.1865 DZIP1L Zornitza Stark Gene: dzip1l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10514 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Mendeliome v0.10514 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1865 DZIP1L Zornitza Stark Publications for gene: DZIP1L were set to
Fetal anomalies v0.1864 DZIP1L Zornitza Stark reviewed gene: DZIP1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Cardiomyopathy_Paediatric v0.119 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Cardiomyopathy_Paediatric v0.119 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.119 PPA2 Zornitza Stark Publications for gene: PPA2 were set to 27523598
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 PRDM9 Zornitza Stark Phenotypes for gene: PRDM9 were changed from Premature ovarian insufficiency, no OMIM # to Inherited primary ovarian failure MONDO:0019852
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Zornitza Stark Marked gene: PRDM9 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence).
Mendeliome v0.10511 NAA20 Zornitza Stark Marked gene: NAA20 as ready
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
Intellectual disability syndromic and non-syndromic v0.4415 NAA20 Zornitza Stark Marked gene: NAA20 as ready
Intellectual disability syndromic and non-syndromic v0.4415 NAA20 Zornitza Stark Gene: naa20 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4415 NAA20 Zornitza Stark reviewed gene: NAA20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive developmental delay, intellectual disability, and microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1864 REN Zornitza Stark Marked gene: REN as ready
Fetal anomalies v0.1864 REN Zornitza Stark Gene: ren has been classified as Green List (High Evidence).
Fetal anomalies v0.1864 REN Zornitza Stark Phenotypes for gene: REN were changed from Renal tubular dysgenesis 267430 to Renal tubular dysgenesis, MIM#267430
Fetal anomalies v0.1863 REN Zornitza Stark Publications for gene: REN were set to 31736371
Fetal anomalies v0.1862 REN Zornitza Stark reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10509 PLA2G7 Zornitza Stark Marked gene: PLA2G7 as ready
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).
Fetal anomalies v0.1862 RELN Zornitza Stark Marked gene: RELN as ready
Fetal anomalies v0.1862 RELN Zornitza Stark Gene: reln has been classified as Green List (High Evidence).
Fetal anomalies v0.1862 RELN Zornitza Stark Phenotypes for gene: RELN were changed from LISSENCEPHALY 2 to Lissencephaly 2 (Norman-Roberts type), MIM# 257320
Fetal anomalies v0.1861 RELN Zornitza Stark Publications for gene: RELN were set to
Intellectual disability syndromic and non-syndromic v0.4415 RAB23 Zornitza Stark Marked gene: RAB23 as ready
Intellectual disability syndromic and non-syndromic v0.4415 RAB23 Zornitza Stark Gene: rab23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4415 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from to Carpenter syndrome (MIM#201000)
Intellectual disability syndromic and non-syndromic v0.4414 RAB23 Zornitza Stark Publications for gene: RAB23 were set to
Intellectual disability syndromic and non-syndromic v0.4413 RAB23 Zornitza Stark Mode of inheritance for gene: RAB23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4412 RAB23 Zornitza Stark reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Craniosynostosis v1.30 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from 201000 CARPENTER SYNDROME to Carpenter syndrome (MIM#201000)
Fetal anomalies v0.1860 RAB23 Zornitza Stark Marked gene: RAB23 as ready
Fetal anomalies v0.1860 RAB23 Zornitza Stark Gene: rab23 has been classified as Green List (High Evidence).
Fetal anomalies v0.1860 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from ACROCEPHALOPOLYSYNDACTYLY TYPE 2 to Carpenter syndrome (MIM#201000)
Fetal anomalies v0.1859 RAB23 Zornitza Stark Publications for gene: RAB23 were set to
Fetal anomalies v0.1858 DZIP1L Belinda Chong 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; Current diagnostic: yes
Mendeliome v0.10505 RAB23 Zornitza Stark Marked gene: RAB23 as ready
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
Fetal anomalies v0.1858 KCNJ10 Zornitza Stark Marked gene: KCNJ10 as ready
Fetal anomalies v0.1858 KCNJ10 Zornitza Stark Gene: kcnj10 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1858 KCNJ10 Zornitza Stark Phenotypes for gene: KCNJ10 were changed from SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE to SESAME syndrome (MIM#612780); Enlarged vestibular aqueduct, digenic (MIM#600791)
Fetal anomalies v0.1857 KCNJ10 Zornitza Stark Publications for gene: KCNJ10 were set to
Mendeliome v0.10502 DSG1 Zornitza Stark Marked gene: DSG1 as ready
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
Fetal anomalies v0.1856 DSG1 Zornitza Stark Marked gene: DSG1 as ready
Fetal anomalies v0.1856 DSG1 Zornitza Stark Gene: dsg1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1856 DSG1 Zornitza Stark Phenotypes for gene: DSG1 were changed from SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508)
Fetal anomalies v0.1855 DSG1 Zornitza Stark Publications for gene: DSG1 were set to
Fetal anomalies v0.1854 DSG1 Zornitza Stark reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26288349; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1854 DPF2 Zornitza Stark Marked gene: DPF2 as ready
Fetal anomalies v0.1854 DPF2 Zornitza Stark Gene: dpf2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1854 DPF2 Zornitza Stark Phenotypes for gene: DPF2 were changed from Coffin Siris like disorder to Coffin-Siris syndrome 7, MIM#618027
Fetal anomalies v0.1853 DPF2 Zornitza Stark Publications for gene: DPF2 were set to
Intellectual disability syndromic and non-syndromic v0.4412 DPF2 Zornitza Stark Marked gene: DPF2 as ready
Intellectual disability syndromic and non-syndromic v0.4412 DPF2 Zornitza Stark Gene: dpf2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4412 DPF2 Zornitza Stark Phenotypes for gene: DPF2 were changed from to Coffin-Siris syndrome 7, MIM#618027
Intellectual disability syndromic and non-syndromic v0.4411 DPF2 Zornitza Stark Publications for gene: DPF2 were set to
Intellectual disability syndromic and non-syndromic v0.4410 DPF2 Zornitza Stark Mode of inheritance for gene: DPF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10499 DPF2 Zornitza Stark Marked gene: DPF2 as ready
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
Fetal anomalies v0.1852 DPF2 Zornitza Stark Classified gene: DPF2 as Green List (high evidence)
Fetal anomalies v0.1852 DPF2 Zornitza Stark Gene: dpf2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1851 DPF2 Zornitza Stark reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 7, MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1851 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Fetal anomalies v0.1851 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1851 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to
Fetal anomalies v0.1850 DNAJC19 Zornitza Stark Classified gene: DNAJC19 as Green List (high evidence)
Fetal anomalies v0.1850 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1849 DNAJC19 Zornitza Stark reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10496 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
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
Cardiomyopathy_Paediatric v0.118 PPA2 Chirag Patel reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34400813; Phenotypes: Sudden cardiac failure, infantile, OMM # 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Chirag Patel Classified gene: PRDM9 as Green List (high evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.282 PRDM9 Chirag Patel Gene: prdm9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.281 PRDM9 Chirag Patel gene: PRDM9 was added
gene: PRDM9 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM9 were set to PMID: 34257419
Phenotypes for gene: PRDM9 were set to Premature ovarian insufficiency, no OMIM #
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
Intellectual disability syndromic and non-syndromic v0.4409 NAA20 Chirag Patel Classified gene: NAA20 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4409 NAA20 Chirag Patel Gene: naa20 has been classified as Green List (High Evidence).
Microcephaly v1.88 NAA20 Chirag Patel Classified gene: NAA20 as Green List (high evidence)
Microcephaly v1.88 NAA20 Chirag Patel Gene: naa20 has been classified as Green List (High Evidence).
Microcephaly v1.87 NAA20 Chirag Patel gene: NAA20 was added
gene: NAA20 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAA20 were set to PMID: 34230638
Phenotypes for gene: NAA20 were set to Autosomal recessive developmental delay, intellectual disability, and microcephaly
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
Intellectual disability syndromic and non-syndromic v0.4408 NAA20 Chirag Patel gene: NAA20 was added
gene: NAA20 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAA20 were set to PMID: 34230638
Phenotypes for gene: NAA20 were set to Autosomal recessive developmental delay, intellectual disability, and microcephaly
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
Fetal anomalies v0.1849 REN Naomi Baker reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: 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
Fetal anomalies v0.1849 RELN Naomi Baker reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973257, 29671837, 16958033, 31805691; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1849 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 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
Fetal anomalies v0.1849 KCNJ10 Daniel Flanagan reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 19426954; Phenotypes: SESAME syndrome (MIM#612780), Enlarged vestibular aqueduct, digenic (MIM#600791); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1849 JAGN1 Zornitza Stark Marked gene: JAGN1 as ready
Fetal anomalies v0.1849 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1849 JAGN1 Zornitza Stark Phenotypes for gene: JAGN1 were changed from SEVERE CONGENITAL NEUTROPENIA to Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022)
Fetal anomalies v0.1848 JAGN1 Zornitza Stark Publications for gene: JAGN1 were set to
Fetal anomalies v0.1847 JAGN1 Zornitza Stark Classified gene: JAGN1 as Amber List (moderate evidence)
Fetal anomalies v0.1847 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1846 Zornitza Stark removed gene:KCNE1 from the panel
Intellectual disability syndromic and non-syndromic v0.4407 KCNC1 Zornitza Stark Marked gene: KCNC1 as ready
Intellectual disability syndromic and non-syndromic v0.4407 KCNC1 Zornitza Stark Gene: kcnc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4407 KCNC1 Zornitza Stark Phenotypes for gene: KCNC1 were changed from to Intellectual disability; Movement disorders; Epilepsy, progressive myoclonic 7 (MIM#616187)
Intellectual disability syndromic and non-syndromic v0.4406 KCNC1 Zornitza Stark Publications for gene: KCNC1 were set to
Intellectual disability syndromic and non-syndromic v0.4405 KCNC1 Zornitza Stark Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4404 KCNC1 Zornitza Stark reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28145425, 31353862, 25401298; Phenotypes: Intellectual disability, Movement disorders, Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1416 KCNC1 Zornitza Stark Marked gene: KCNC1 as ready
Genetic Epilepsy v0.1416 KCNC1 Zornitza Stark Gene: kcnc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1416 KCNC1 Zornitza Stark Phenotypes for gene: KCNC1 were changed from to Epilepsy, progressive myoclonic 7 (MIM#616187); Intellectual disability; Movement disorders
Fetal anomalies v0.1845 Zornitza Stark removed gene:KCNC1 from the panel
Genetic Epilepsy v0.1415 KCNC1 Zornitza Stark Publications for gene: KCNC1 were set to 28145425; 31353862; 25401298
Genetic Epilepsy v0.1415 KCNC1 Zornitza Stark Publications for gene: KCNC1 were set to
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
Fetal anomalies v0.1844 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
Genetic Epilepsy v0.1414 KCNC1 Zornitza Stark Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1413 KCNC1 Zornitza Stark reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28145425, 31353862, 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187), Intellectual disability, Movement disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10493 KCNC1 Zornitza Stark Marked gene: KCNC1 as ready
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
Fetal anomalies v0.1844 KBTBD13 Zornitza Stark Marked gene: KBTBD13 as ready
Fetal anomalies v0.1844 KBTBD13 Zornitza Stark Gene: kbtbd13 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1844 KBTBD13 Zornitza Stark Phenotypes for gene: KBTBD13 were changed from NEMALINE MYOPATHY 6 to Nemaline myopathy 6, autosomal dominant (MIM#609273)
Fetal anomalies v0.1843 KBTBD13 Zornitza Stark Publications for gene: KBTBD13 were set to
Fetal anomalies v0.1842 KBTBD13 Zornitza Stark Mode of inheritance for gene: KBTBD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10489 JAK3 Zornitza Stark Marked gene: JAK3 as ready
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
Fetal anomalies v0.1841 Zornitza Stark removed gene:JAK3 from the panel
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
Fetal anomalies v0.1840 GDF1 Zornitza Stark Marked gene: GDF1 as ready
Fetal anomalies v0.1840 GDF1 Zornitza Stark Gene: gdf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1840 GDF1 Zornitza Stark Phenotypes for gene: GDF1 were changed from Right atrial isomerism (Ivemark); Congenital heart defects, multiple types to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530
Fetal anomalies v0.1839 GDF1 Zornitza Stark Publications for gene: GDF1 were set to 17924340; PMID: 20413652; 28991257
Mendeliome v0.10486 GBE1 Zornitza Stark Marked gene: GBE1 as ready
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
Fetal anomalies v0.1838 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Fetal anomalies v0.1838 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1838 GBE1 Zornitza Stark Publications for gene: GBE1 were set to 21620786
Fetal anomalies v0.1837 GBE1 Zornitza Stark Deleted their comment
Fetal anomalies v0.1837 GBE1 Zornitza Stark edited their review of gene: GBE1: Added comment: Three unrelated families reported with severe prenatal presentation of this muscle disorder causing fetal akinesia.; Changed rating: GREEN; Changed publications: 30303820; Changed phenotypes: Glycogen storage disease IV, MIM#232500, Fetal akinesia
Fetal anomalies v0.1837 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Fetal anomalies v0.1837 GBA2 Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1837 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. to Spastic paraplegia 46, autosomal recessive, MIM#614409
Fetal anomalies v0.1836 GBA2 Zornitza Stark Classified gene: GBA2 as Red List (low evidence)
Fetal anomalies v0.1836 GBA2 Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1835 GBA2 Zornitza Stark changed review comment from: Progressive neurodegenerative condition with childhood onset rather than truly ID.; to: Progressive neurodegenerative condition with childhood onset.
Fetal anomalies v0.1835 GBA Zornitza Stark Marked gene: GBA as ready
Fetal anomalies v0.1835 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Fetal anomalies v0.1835 GBA Zornitza Stark Publications for gene: GBA were set to 30712880
Fetal anomalies v0.1834 GBA Zornitza Stark edited their review of gene: GBA: Changed publications: 12838552
Fetal anomalies v0.1834 GBA Zornitza Stark Phenotypes for gene: GBA were changed from GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE to Gaucher disease, perinatal lethal, MIM# 608013
Fetal anomalies v0.1833 GBA Zornitza Stark Deleted their comment
Fetal anomalies v0.1833 GBA Zornitza Stark edited their review of gene: GBA: Added comment: Multiple reports of perinatal lethal cases. IUGR, hydrops, polyhydramnios, decreased fetal movements.; Changed rating: GREEN; Changed phenotypes: Gaucher disease, perinatal lethal, MIM# 608013
Fetal anomalies v0.1833 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Fetal anomalies v0.1833 GATA6 Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1833 GATA6 Zornitza Stark Phenotypes for gene: GATA6 were changed from ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9 to Pancreatic agenesis and congenital heart defects, MIM# 600001
Fetal anomalies v0.1832 GATA6 Zornitza Stark Publications for gene: GATA6 were set to
Fetal anomalies v0.1831 GATA6 Zornitza Stark Mode of inheritance for gene: GATA6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1830 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Fetal anomalies v0.1830 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1830 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from EMBERGER SYNDROME to Emberger syndrome, MIM# 614038
Fetal anomalies v0.1829 GATA2 Zornitza Stark Publications for gene: GATA2 were set to
Fetal anomalies v0.1828 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1827 GATA2 Zornitza Stark Classified gene: GATA2 as Amber List (moderate evidence)
Fetal anomalies v0.1827 GATA2 Zornitza Stark Gene: gata2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1826 GALC Zornitza Stark Marked gene: GALC as ready
Fetal anomalies v0.1826 GALC Zornitza Stark Gene: galc has been classified as Red List (Low Evidence).
Fetal anomalies v0.1826 GALC Zornitza Stark Classified gene: GALC as Red List (low evidence)
Fetal anomalies v0.1826 GALC Zornitza Stark Gene: galc has been classified as Red List (Low Evidence).
Fetal anomalies v0.1825 GALC Zornitza Stark changed review comment from: Cannot find reports of hydrops with this specific lysosomal storage disorder.
Sources: Expert list; to: Cannot find reports of hydrops with this specific lysosomal storage disorder.

Progressive post-natal course.

Sources: Expert list
Fetal anomalies v0.1825 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Fetal anomalies v0.1825 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1825 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541
Fetal anomalies v0.1824 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Fetal anomalies v0.1823 G6PC3 Zornitza Stark Deleted their comment
Fetal anomalies v0.1823 G6PC3 Zornitza Stark edited their review of gene: G6PC3: Added comment: Congenital heart defects are a feature.; Changed rating: GREEN
Fetal anomalies v0.1823 KCNE1 Daniel Flanagan reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (MIM#612347), Long QT syndrome 5 (MIM#613695); Mode of inheritance: BOTH monoallelic and 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
Progressive Myoclonic Epilepsy v0.13 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
Fetal anomalies v0.1823 KCNC1 Daniel Flanagan reviewed gene: KCNC1: Rating: RED; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1823 KBTBD13 Daniel Flanagan reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: 11731279, 21104864; Phenotypes: Nemaline myopathy 6, autosomal dominant (MIM#609273); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1823 JAK3 Daniel Flanagan reviewed gene: JAK3: Rating: RED; Mode of pathogenicity: None; Publications: 7659163, 7481768; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type (MIM#600802); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1823 FYCO1 Zornitza Stark Marked gene: FYCO1 as ready
Fetal anomalies v0.1823 FYCO1 Zornitza Stark Gene: fyco1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1823 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from Cataract 18 (MIN#610019) AR to Cataract 18 (MIM#610019) AR
Fetal anomalies v0.1822 FYCO1 Zornitza Stark Phenotypes for gene: FYCO1 were changed from CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 to Cataract 18 (MIN#610019) AR
Fetal anomalies v0.1821 FYCO1 Zornitza Stark Publications for gene: FYCO1 were set to
Fetal anomalies v0.1820 FTL Zornitza Stark Marked gene: FTL as ready
Fetal anomalies v0.1820 FTL Zornitza Stark Gene: ftl has been classified as Green List (High Evidence).
Fetal anomalies v0.1820 FTL Zornitza Stark Phenotypes for gene: FTL were changed from HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME to Hyperferritinemia-cataract syndrome, MIM# 600886
Fetal anomalies v0.1819 FTL Zornitza Stark Mode of inheritance for gene: FTL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1818 FTL Zornitza Stark Deleted their comment
Fetal anomalies v0.1818 FTL Zornitza Stark edited their review of gene: FTL: Added comment: Cataracts are congenital in some and may be detectable antenatally.; Changed rating: GREEN; Changed phenotypes: Hyperferritinemia-cataract syndrome, MIM# 600886; Changed 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
Intellectual disability syndromic and non-syndromic v0.4404 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
Fetal anomalies v0.1818 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
Fetal anomalies v0.1818 FRMD4A Zornitza Stark Marked gene: FRMD4A as ready
Fetal anomalies v0.1818 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1818 FRMD4A Zornitza Stark Phenotypes for gene: FRMD4A were changed from ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819
Fetal anomalies v0.1817 FRMD4A Zornitza Stark Classified gene: FRMD4A as Amber List (moderate evidence)
Fetal anomalies v0.1817 FRMD4A Zornitza Stark Gene: frmd4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10483 FREM1 Zornitza Stark Marked gene: FREM1 as ready
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
Fetal anomalies v0.1816 FREM1 Zornitza Stark Mode of inheritance for gene: FREM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1815 FREM1 Zornitza Stark Marked gene: FREM1 as ready
Fetal anomalies v0.1815 FREM1 Zornitza Stark Gene: frem1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1815 FREM1 Zornitza Stark Phenotypes for gene: FREM1 were changed from MANITOBA OCULOTRICHOANAL SYNDROME to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485
Fetal anomalies v0.1814 FREM1 Zornitza Stark Publications for gene: FREM1 were set to
Fetal anomalies v0.1813 FREM1 Zornitza Stark changed review comment from: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes.
Sources: Literature; to: Single individual reported with compound het variants in this gene and CDH, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes.
Sources: Literature
Fetal anomalies v0.1813 FREM1 Zornitza Stark edited their review of gene: FREM1: Added comment: Bi-allelic variants are associated with multiple congenital anomaly syndromes (MOTA and BNAR), which likely represent a spectrum.

Three families reported with trigonocephaly and single missense variants.; Changed rating: GREEN; Changed publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Changed phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485
Fetal anomalies v0.1813 JAGN1 Daniel Flanagan reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25129144; Phenotypes: Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10480 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
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
Fetal anomalies v0.1813 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Fetal anomalies v0.1813 FRAS1 Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1813 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from FRASER SYNDROME to Fraser syndrome 1, MIM#219000
Fetal anomalies v0.1812 FRAS1 Zornitza Stark changed review comment from: ID is part of the phenotype; to: Multiple congenital anomalies syndrome.
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Mitochondrial disease v0.683 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
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
Mitochondrial disease v0.682 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.681 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.218 SGPL1 Seb Lunke Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Fetal anomalies v0.1812 SGPL1 Seb Lunke Marked gene: SGPL1 as ready
Fetal anomalies v0.1812 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Marked gene: SGPL1 as ready
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1812 SGPL1 Seb Lunke Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome type 14, 617575; Fetal hydrops to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Classified gene: SGPL1 as Green List (high evidence)
Combined Immunodeficiency v1.6 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1811 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Fetal anomalies v0.1811 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1811 SGPL1 Seb Lunke Publications for gene: SGPL1 were set to
Hydrops fetalis v0.217 SGPL1 Seb Lunke Publications for gene: SGPL1 were set to 28165343
Fetal anomalies v0.1810 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Fetal anomalies v0.1809 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
Fetal anomalies v0.1809 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Combined Immunodeficiency v1.5 SGPL1 Seb Lunke gene: SGPL1 was added
gene: SGPL1 was added to Combined Immunodeficiency. Sources: Expert Review,Literature
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 33074640
Phenotypes for gene: SGPL1 were set to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Review for gene: SGPL1 was set to GREEN
gene: SGPL1 was marked as current diagnostic
Added comment: From Gene Reviews: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy. Steroid-resistant nephrotic syndrome (37/46), Immunodeficiency (31/46), Primary adrenal insufficiency (31/46), cryptorchidism and/or micropenis (6/26), Developmental delay (9/46), Regression/progressive neurologic involvement (6/46), Peripheral motor & sensory neuropathy (5/46). Other symptoms include ichthyosis, SNHL, Hypothyroidism.
Sources: Expert Review, Literature
Fetal anomalies v0.1808 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; Current diagnostic: yes
Hydrops fetalis v0.216 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 v0.10477 SGPL1 Seb Lunke Marked gene: SGPL1 as ready
Mendeliome v0.10477 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1808 DNAJB11 Zornitza Stark Marked gene: DNAJB11 as ready
Fetal anomalies v0.1808 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
Mendeliome v0.10477 SGPL1 Seb Lunke Publications for gene: SGPL1 were set to
Fetal anomalies v0.1808 DNAJB11 Zornitza Stark Publications for gene: DNAJB11 were set to
Fetal anomalies v0.1807 DNAJB11 Zornitza Stark Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10476 SGPL1 Seb Lunke Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1806 DNAJB11 Zornitza Stark Classified gene: DNAJB11 as Green List (high evidence)
Fetal anomalies v0.1806 DNAJB11 Zornitza Stark Gene: dnajb11 has been classified as Green List (High Evidence).
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
Fetal anomalies v0.1805 LRIG2 Zornitza Stark Marked gene: LRIG2 as ready
Fetal anomalies v0.1805 LRIG2 Zornitza Stark Gene: lrig2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1805 LRIG2 Zornitza Stark Phenotypes for gene: LRIG2 were changed from UROFACIAL SYNDROME to Urofacial syndrome 2 (MIM#615112)
Fetal anomalies v0.1804 LRIG2 Zornitza Stark Publications for gene: LRIG2 were set to
Fetal anomalies v0.1803 LRIG2 Zornitza Stark Classified gene: LRIG2 as Green List (high evidence)
Fetal anomalies v0.1803 LRIG2 Zornitza Stark Gene: lrig2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4404 SGPL1 Seb Lunke Publications for gene: SGPL1 were set to
Intellectual disability syndromic and non-syndromic v0.4403 SGPL1 Seb Lunke Marked gene: SGPL1 as ready
Intellectual disability syndromic and non-syndromic v0.4403 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4403 SGPL1 Seb Lunke Phenotypes for gene: SGPL1 were changed from to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575
Intellectual disability syndromic and non-syndromic v0.4402 SGPL1 Seb Lunke Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4401 SGPL1 Seb Lunke reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1802 DNAJB11 Belinda Chong reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351, 29777155, 33129895, 34177435; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1802 LRIG2 Daniel Flanagan reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313374, 27855655, 30885509; Phenotypes: Urofacial syndrome 2 (MIM#615112); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10475 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
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
Hydrops fetalis v0.216 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Hydrops fetalis v0.216 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Hydrops fetalis v0.216 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Hydrops fetalis v0.215 FOXP3 Zornitza Stark Publications for gene: FOXP3 were set to
Hydrops fetalis v0.214 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.213 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33637067, 30813833, 33330291; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1802 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Fetal anomalies v0.1802 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1802 FOXP3 Zornitza Stark Publications for gene: FOXP3 were set to 28425981
Fetal anomalies v0.1801 FOXP3 Zornitza Stark Classified gene: FOXP3 as Green List (high evidence)
Fetal anomalies v0.1801 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1800 FOXP3 Zornitza Stark Deleted their comment
Fetal anomalies v0.1800 FOXP3 Zornitza Stark edited their review of gene: FOXP3: Added comment: Multiple reports of hydrops (over 10 individuals).; Changed rating: GREEN; Changed publications: 33637067, 30813833, 33330291
Fetal anomalies v0.1800 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from IPEX SYNDROME to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Fetal anomalies v0.1799 FOXP3 Zornitza Stark Classified gene: FOXP3 as Red List (low evidence)
Fetal anomalies v0.1799 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1798 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1798 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Fetal anomalies v0.1798 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1798 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968
Fetal anomalies v0.1797 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1796 FOXE3 Zornitza Stark Publications for gene: FOXE3 were set to
Mendeliome v0.10472 MMP3 Zornitza Stark Marked gene: MMP3 as ready
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).
Polymicrogyria and Schizencephaly v0.168 PI4KA Zornitza Stark Publications for gene: PI4KA were set to 25855803
Cerebellar and Pontocerebellar Hypoplasia v1.26 PI4KA Zornitza Stark Publications for gene: PI4KA were set to 25855803
Cerebellar and Pontocerebellar Hypoplasia v1.25 PI4KA Zornitza Stark Classified gene: PI4KA as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.25 PI4KA Zornitza Stark Gene: pi4ka has been classified as Green List (High 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
Polymicrogyria and Schizencephaly v0.167 PI4KA Paul De Fazio reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 34415322; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebellar and Pontocerebellar Hypoplasia v1.24 PI4KA Paul De Fazio reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415322; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1795 Zornitza Stark removed gene:LRAT from the panel
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
Fetal anomalies v0.1794 Zornitza Stark removed gene:LIPN from the panel
Skeletal dysplasia v0.150 GPX4 Ain Roesley changed review comment from: PMID: 24706940
2x families.
The first, maternally inherited splice and a de novo splice
The second is a consaguineous family was a hom nonsense but DNA from deceased infant and parents were sequenced

PMID: 32827718
1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant; to: PMID: 24706940
2x families.
The first, maternally inherited splice and a de novo splice
The second is a consaguineous family was a hom nonsense but DNA from deceased infant was unavailable and parents were sequenced

PMID: 32827718
1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant
Fetal anomalies v0.1793 GZF1 Zornitza Stark Marked gene: GZF1 as ready
Fetal anomalies v0.1793 GZF1 Zornitza Stark Gene: gzf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1793 GZF1 Zornitza Stark Publications for gene: GZF1 were set to
Fetal anomalies v0.1792 GZF1 Zornitza Stark Classified gene: GZF1 as Green List (high evidence)
Fetal anomalies v0.1792 GZF1 Zornitza Stark Gene: gzf1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1791 GSC Zornitza Stark Marked gene: GSC as ready
Fetal anomalies v0.1791 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Fetal anomalies v0.1791 GSC Zornitza Stark Publications for gene: GSC were set to
Fetal anomalies v0.1790 GSC Zornitza Stark Classified gene: GSC as Green List (high evidence)
Fetal anomalies v0.1790 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Mendeliome v0.10466 GRM1 Zornitza Stark Marked gene: GRM1 as ready
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
Fetal anomalies v0.1789 GRM1 Zornitza Stark Marked gene: GRM1 as ready
Fetal anomalies v0.1789 GRM1 Zornitza Stark Gene: grm1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1789 GRM1 Zornitza Stark Phenotypes for gene: GRM1 were changed from CONGENITAL CEREBELLAR ATAXIA to Spinocerebellar ataxia, autosomal recessive 13 MIM#614831
Fetal anomalies v0.1788 GRM1 Zornitza Stark Publications for gene: GRM1 were set to
Fetal anomalies v0.1787 GRM1 Zornitza Stark Classified gene: GRM1 as Red List (low evidence)
Fetal anomalies v0.1787 GRM1 Zornitza Stark Gene: grm1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1786 GRM1 Zornitza Stark reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.65 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to 25152456
Ectodermal Dysplasia v0.64 GRHL2 Zornitza Stark Classified gene: GRHL2 as Green List (high evidence)
Ectodermal Dysplasia v0.64 GRHL2 Zornitza Stark Gene: grhl2 has been classified as Green List (High Evidence).
Mendeliome v0.10463 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to 25152456; 29499165
Fetal anomalies v0.1786 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950 to Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950
Fetal anomalies v0.1785 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to 19412178; 31338833
Fetal anomalies v0.1784 LRAT Daniel Flanagan reviewed gene: LRAT: Rating: RED; 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: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1784 SLC25A38 Zornitza Stark Classified gene: SLC25A38 as Amber List (moderate evidence)
Fetal anomalies v0.1784 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1783 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: AMBER; Mode of pathogenicity: None; Publications: 34298585; Phenotypes: Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10462 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to 10581036; 10947946; 33862140
Fetal anomalies v0.1783 GREB1L Zornitza Stark Marked gene: GREB1L as ready
Fetal anomalies v0.1783 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Fetal anomalies v0.1783 GREB1L Zornitza Stark Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, 617805; renal agenesis to Renal hypodysplasia/aplasia 3, MIM#617805; renal agenesis
Fetal anomalies v0.1782 GREB1L Zornitza Stark Publications for gene: GREB1L were set to 29261186; 32378186; 31974414; 31424080; 29100091
Fetal anomalies v0.1781 GREB1L Zornitza Stark Mode of inheritance for gene: GREB1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1780 GREB1L Zornitza Stark Classified gene: GREB1L as Green List (high evidence)
Fetal anomalies v0.1780 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Fetal anomalies v0.1779 GREB1L Zornitza Stark reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.150 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Skeletal dysplasia v0.150 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.150 GPX4 Zornitza Stark Phenotypes for gene: GPX4 were changed from Spondylometaphyseal dysplasia, Sedaghatian type 250220 to Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220
Fetal anomalies v0.1779 LIPN Daniel Flanagan reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: None; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8 (MIM#613943); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.149 GPX4 Zornitza Stark Publications for gene: GPX4 were set to 24706940
Skeletal dysplasia v0.148 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Skeletal dysplasia v0.148 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1779 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Fetal anomalies v0.1779 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1779 GPX4 Zornitza Stark Phenotypes for gene: GPX4 were changed from SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE to Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220
Fetal anomalies v0.1778 GPX4 Zornitza Stark Publications for gene: GPX4 were set to
Fetal anomalies v0.1777 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Fetal anomalies v0.1777 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Mendeliome v0.10461 GPX4 Zornitza Stark Marked gene: GPX4 as ready
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
Fetal anomalies v0.1776 GPKOW Zornitza Stark Marked gene: GPKOW as ready
Fetal anomalies v0.1776 GPKOW Zornitza Stark Gene: gpkow has been classified as Red List (Low Evidence).
Fetal anomalies v0.1776 GPKOW Zornitza Stark Classified gene: GPKOW as Red List (low evidence)
Fetal anomalies v0.1776 GPKOW Zornitza Stark Gene: gpkow has been classified as Red List (Low Evidence).
Mendeliome v0.10457 GPKOW Zornitza Stark Marked gene: GPKOW as ready
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).
Fetal anomalies v0.1775 GPC6 Zornitza Stark Tag SV/CNV tag was added to gene: GPC6.
Fetal anomalies v0.1775 GPC6 Zornitza Stark Marked gene: GPC6 as ready
Fetal anomalies v0.1775 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1775 GPC6 Zornitza Stark Publications for gene: GPC6 were set to
Fetal anomalies v0.1774 GPC6 Zornitza Stark reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Omodysplasia 1, MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1774 GPC6 Zornitza Stark Classified gene: GPC6 as Green List (high evidence)
Fetal anomalies v0.1774 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1773 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Fetal anomalies v0.1773 GNA11 Zornitza Stark Gene: gna11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1773 GNA11 Zornitza Stark Phenotypes for gene: GNA11 were changed from Congenital Hemangioma to Hypocalcemia, autosomal dominant 2 MIM#615361; Hypocalciuric hypercalcemia, type II MIM#145981; Congenital Haemangioma
Fetal anomalies v0.1772 GNA11 Zornitza Stark Publications for gene: GNA11 were set to 23802536; 23802516; 24823460; 26818911; 27334330
Fetal anomalies v0.1771 GNA11 Zornitza Stark changed review comment from: Post-natal presentation.; to: Post-natal presentation for calcium disorders.

Somatic variants present in cutaneous haemangiomas, which can be of perinatal onset.
Fetal anomalies v0.1771 GNA11 Zornitza Stark edited their review of gene: GNA11: Changed publications: 34040639
Fetal anomalies v0.1771 GNA11 Zornitza Stark Publications for gene: GNA11 were set to
Fetal anomalies v0.1770 GNA11 Zornitza Stark Mode of pathogenicity for gene: GNA11 was changed from to Other
Fetal anomalies v0.1769 GNA11 Zornitza Stark Mode of inheritance for gene: GNA11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1768 GNA11 Zornitza Stark Classified gene: GNA11 as Red List (low evidence)
Fetal anomalies v0.1768 GNA11 Zornitza Stark Gene: gna11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1767 GNA11 Zornitza Stark reviewed gene: GNA11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10456 GNA11 Zornitza Stark Marked gene: GNA11 as ready
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
Fetal anomalies v0.1767 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Fetal anomalies v0.1767 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1767 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from LYMPHEDEMA-DISTICHIASIS SYNDROME; HEREDITARY LYMPHEDEMA II to Lymphoedema-distichiasis syndrome, MIM# 153400
Fetal anomalies v0.1766 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Fetal anomalies v0.1765 FOXC2 Zornitza Stark changed review comment from: Single individual reported with CDH, some supportive functional data.
Sources: Literature; to: Lymphoedema-distichiasis is an autosomal dominant disorder that classically presents as lymphoedema of the limbs and double rows of eyelashes (distichiasis). Other features that may present antenatally include cardiac defects, cleft palate, spinal extradural cysts, and CDH. Well established gene-disease association, multiple families reported.
Sources: Literature
Fetal anomalies v0.1765 FOXC2 Zornitza Stark edited their review of gene: FOXC2: Changed rating: GREEN; Changed publications: 33461977, 27663689, 11078474, 11694548, 11371511; Changed phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400
Fetal anomalies v0.1765 GZF1 Ain Roesley reviewed gene: GZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33009817, 28475863; Phenotypes: Joint laxity, short stature, and myopia, MIM# 617662, Larsen-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1765 GSC Ain Roesley reviewed gene: GSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24290375; Phenotypes: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, MIM# 602471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10452 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
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
Fetal anomalies v0.1765 GRM1 Ain Roesley reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: 22901947, 26308914; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1765 FOXC1 Zornitza Stark Marked gene: FOXC1 as ready
Fetal anomalies v0.1765 FOXC1 Zornitza Stark Gene: foxc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1765 FOXC1 Zornitza Stark Phenotypes for gene: FOXC1 were changed from AXENFELD-RIEGER SYNDROME TYPE 3; IRIDOGONIODYSGENESIS ANOMALY; PETERS ANOMALY to Axenfeld-Rieger syndrome, type 3, MIM# 602482
Fetal anomalies v0.1764 FOXC1 Zornitza Stark Publications for gene: FOXC1 were set to 32720677
Fetal anomalies v0.1763 FOXC1 Zornitza Stark Mode of inheritance for gene: FOXC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1762 FOXC1 Zornitza Stark edited their review of gene: FOXC1: Added comment: ARS can present antenatally with congenital heart disease and umbilical defects.; Changed rating: GREEN; Changed publications: 30255586; Changed phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1762 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 19415813, 25152456; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1762 FOXC1 Zornitza Stark Deleted their comment
Fetal anomalies v0.1762 FOLR1 Zornitza Stark Marked gene: FOLR1 as ready
Fetal anomalies v0.1762 FOLR1 Zornitza Stark Gene: folr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1762 FOLR1 Zornitza Stark Phenotypes for gene: FOLR1 were changed from NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY to Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley changed review comment from: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. Originally described in PMID: 19415813; to: 2 more unrelated probands with ectodermal dysplasia/short stature syndrome. 1x originally described in PMID: 19415813
Fetal anomalies v0.1761 FOLR1 Zornitza Stark Publications for gene: FOLR1 were set to
Fetal anomalies v0.1760 FOLR1 Zornitza Stark Classified gene: FOLR1 as Red List (low evidence)
Fetal anomalies v0.1760 FOLR1 Zornitza Stark Gene: folr1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1759 FOLR1 Zornitza Stark changed review comment from: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Recognition and diagnosis of this disorder is critical because folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function.; to: Onset is apparent in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy. Not pertinent to fetal panel.
Fetal anomalies v0.1759 FOLR1 Zornitza Stark edited their review of gene: FOLR1: Changed rating: RED
Fetal anomalies v0.1759 GRHL2 Ain Roesley Deleted their review
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley edited their review of gene: GRHL2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ectodermal Dysplasia v0.63 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: ; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: None; Current diagnostic: yes
Fetal anomalies v0.1759 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 25152456, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, 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
Fetal anomalies v0.1759 SLC25A38 Seb Lunke Marked gene: SLC25A38 as ready
Fetal anomalies v0.1759 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1759 SLC25A38 Seb Lunke Phenotypes for gene: SLC25A38 were changed from ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950
Fetal anomalies v0.1758 SLC25A38 Seb Lunke Publications for gene: SLC25A38 were set to
Fetal anomalies v0.1757 SLC25A38 Seb Lunke Classified gene: SLC25A38 as Red List (low evidence)
Fetal anomalies v0.1757 SLC25A38 Seb Lunke Added comment: Comment on list classification: Red for fetal anomalies panel as no conclusive detectable fetal presentation
Fetal anomalies v0.1757 SLC25A38 Seb Lunke Gene: slc25a38 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1756 SLC25A38 Seb Lunke reviewed gene: SLC25A38: Rating: RED; Mode of pathogenicity: None; Publications: 19412178, 31338833; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950; 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
Fetal anomalies v0.1756 SLC17A5 Seb Lunke Marked gene: SLC17A5 as ready
Fetal anomalies v0.1756 SLC17A5 Seb Lunke Gene: slc17a5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1756 SLC17A5 Seb Lunke Phenotypes for gene: SLC17A5 were changed from SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISORDER to Sialic acid storage disorder, infantile, MIM#269920; MONDO:0010027
Fetal anomalies v0.1755 SLC17A5 Seb Lunke Publications for gene: SLC17A5 were set to
Fetal anomalies v0.1754 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140, 10581036, 10947946; Phenotypes: Sialic acid storage disorder, infantile, MIM#269920, MONDO:0010027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1754 GREB1L Ain Roesley reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100091, 29955957, 32585897; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805, Deafness, autosomal dominant 80, MIM# 619274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Skeletal dysplasia v0.147 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
Fetal anomalies v0.1754 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 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
Fetal anomalies v0.1754 SLC12A6 Seb Lunke Marked gene: SLC12A6 as ready
Fetal anomalies v0.1754 SLC12A6 Seb Lunke Gene: slc12a6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1754 SLC12A6 Seb Lunke Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Fetal anomalies v0.1753 SLC12A6 Seb Lunke reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1753 GPKOW Ain Roesley reviewed gene: GPKOW: Rating: RED; Mode of pathogenicity: None; Publications: 28612833; Phenotypes: male-lethal microcephaly with intrauterine growth restriction; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; 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
Fetal anomalies v0.1753 GPC6 Ain Roesley reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1753 GNA11 Ain Roesley reviewed gene: GNA11: Rating: AMBER; 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 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
Fetal anomalies v0.1753 Zornitza Stark removed gene:HPS1 from the panel
Fetal anomalies v0.1752 Zornitza Stark removed gene:HPRT1 from the panel
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Marked gene: HOXC13 as ready
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Gene: hoxc13 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.63 HOXC13 Zornitza Stark Phenotypes for gene: HOXC13 were changed from Ectodermal dysplasia 9 to Ectodermal dysplasia 9, hair/nail type MIM#614931
Ectodermal Dysplasia v0.62 HOXC13 Zornitza Stark Publications for gene: HOXC13 were set to
Ectodermal Dysplasia v0.61 HOXC13 Zornitza Stark edited their review of gene: HOXC13: Added comment: Four unrelated families reported.; Changed publications: 23063621, 23315978, 29278420
Ectodermal Dysplasia v0.61 HOXC13 Zornitza Stark reviewed gene: HOXC13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia 9, hair/nail type MIM#614931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10448 HOXC13 Zornitza Stark Marked gene: HOXC13 as ready
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
Fetal anomalies v0.1751 Zornitza Stark removed gene:HOXC13 from the panel
Fetal anomalies v0.1750 Zornitza Stark removed gene:HLCS from the panel
Fetal anomalies v0.1749 Zornitza Stark removed gene:HINT1 from the panel
Fetal anomalies v0.1748 Zornitza Stark removed gene:HAX1 from the panel
Fetal anomalies v0.1747 Zornitza Stark removed gene:GRM6 from the panel
Fetal anomalies v0.1746 Zornitza Stark removed gene:GJB2 from the panel
Fetal anomalies v0.1745 Zornitza Stark removed gene:GCH1 from the panel
Mendeliome v0.10445 FZD6 Zornitza Stark Marked gene: FZD6 as ready
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
Fetal anomalies v0.1744 Zornitza Stark removed gene:FZD6 from the panel
Fetal anomalies v0.1743 Zornitza Stark removed gene:FTCD from the panel
Fetal anomalies v0.1742 Zornitza Stark removed gene:FOXN1 from the panel
Fetal anomalies v0.1741 Zornitza Stark removed gene:FHL1 from the panel
Fetal anomalies v0.1740 Zornitza Stark removed gene:FGD4 from the panel
Fetal anomalies v0.1739 Zornitza Stark removed gene:FAM161A from the panel
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
Fetal anomalies v0.1738 DHTKD1 Zornitza Stark Marked gene: DHTKD1 as ready
Fetal anomalies v0.1738 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1738 DHTKD1 Zornitza Stark Phenotypes for gene: DHTKD1 were changed from 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism
Fetal anomalies v0.1737 DHTKD1 Zornitza Stark Publications for gene: DHTKD1 were set to
Fetal anomalies v0.1736 DHTKD1 Zornitza Stark reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria MIM#204750, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1736 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
Deafness_IsolatedAndComplex v1.110 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Mendeliome v0.10442 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Fetal anomalies v0.1736 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Clefting disorders v0.165 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Clefting disorders v0.165 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Clefting disorders v0.165 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from BOR2; BRANCHIOOTORENAL SYNDROME 2 to Branchiootorenal syndrome 2, MIM# 610896
Clefting disorders v0.164 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Clefting disorders v0.163 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.162 SIX5 Zornitza Stark Classified gene: SIX5 as Red List (low evidence)
Clefting disorders v0.162 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Clefting disorders v0.161 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.102 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.101 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.100 SIX5 Zornitza Stark Classified gene: SIX5 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.100 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 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.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: AMBER
Fetal anomalies v0.1736 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Fetal anomalies v0.1735 SIX5 Zornitza Stark Classified gene: SIX5 as Red List (low evidence)
Fetal anomalies v0.1735 SIX5 Zornitza Stark Gene: six5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1734 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: RED
Fetal anomalies v0.1734 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed phenotypes: Branchiootorenal syndrome 2, MIM#610896
Fetal anomalies v0.1734 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.99 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 v0.10440 SIX5 Zornitza Stark Marked gene: SIX5 as ready
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
Fetal anomalies v0.1734 Zornitza Stark removed gene:FMR1 from the panel
Fetal anomalies v0.1733 Zornitza Stark removed gene:FBP1 from the panel
Fetal anomalies v0.1732 Zornitza Stark removed gene:FAM20A from the panel
Fetal anomalies v0.1731 Zornitza Stark removed gene:EDAR from the panel
Fetal anomalies v0.1730 Zornitza Stark removed gene:EDA from the panel
Fetal anomalies v0.1729 Zornitza Stark removed gene:DSPP from the panel
Fetal anomalies v0.1728 Zornitza Stark removed gene:DOCK8 from the panel
Fetal anomalies v0.1727 Zornitza Stark removed gene:CRX from the panel
Fetal anomalies v0.1726 Zornitza Stark removed gene:CRB1 from the panel
Fetal anomalies v0.1725 DLX5 Belinda Chong 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; Current diagnostic: yes
Fetal anomalies v0.1725 DLX5 Belinda Chong Deleted their review
Fetal anomalies v0.1725 DLX5 Belinda Chong reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10436 SKI Seb Lunke Marked gene: SKI as ready
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
Fetal anomalies v0.1725 SKI Seb Lunke Marked gene: SKI as ready
Fetal anomalies v0.1725 SKI Seb Lunke Gene: ski has been classified as Green List (High Evidence).
Fetal anomalies v0.1725 SKI Seb Lunke Publications for gene: SKI were set to 15884042; 23023332
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.
Fetal anomalies v0.1724 SKI Seb Lunke Added comment: Comment on mode of pathogenicity: 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.
Fetal anomalies v0.1724 SKI Seb Lunke Mode of pathogenicity for gene: SKI was changed from to None
Fetal anomalies v0.1723 DHTKD1 Belinda Chong reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141294, 29661920, 28902413, 27604308, 23141293, 25860818; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025, Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
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
Fetal anomalies v0.1723 SKI Seb Lunke Phenotypes for gene: SKI were changed from SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Shprintzen-Goldberg syndrome, MIM#182212
Fetal anomalies v0.1722 SKI Seb Lunke Publications for gene: SKI were set to
Fetal anomalies v0.1721 SKI Seb Lunke Mode of inheritance for gene: SKI was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1720 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
Fetal anomalies v0.1720 SIX5 Seb Lunke Marked gene: SIX5 as ready
Fetal anomalies v0.1720 SIX5 Seb Lunke Gene: six5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1720 SIX5 Seb Lunke Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME TYPE 2 to Branchiootorenal syndrome 2, MIM#610896
Fetal anomalies v0.1719 SIX5 Seb Lunke reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootorenal syndrome 2, MIM#610896; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10433 KEL Zornitza Stark Marked gene: KEL as ready
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
Regression v0.391 COX15 Zornitza Stark Marked gene: COX15 as ready
Regression v0.391 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Regression v0.391 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
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).
Regression v0.390 COX15 Zornitza Stark Publications for gene: COX15 were set to
Regression v0.389 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4401 COX15 Zornitza Stark Publications for gene: COX15 were set to
Regression v0.388 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
Intellectual disability syndromic and non-syndromic v0.4401 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4400 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4399 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
Callosome v0.354 COX15 Zornitza Stark Marked gene: COX15 as ready
Callosome v0.354 COX15 Zornitza Stark Gene: cox15 has been classified as Red List (Low Evidence).
Callosome v0.354 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Callosome v0.353 COX15 Zornitza Stark Publications for gene: COX15 were set to
Callosome v0.352 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.351 COX15 Zornitza Stark Classified gene: COX15 as Red List (low evidence)
Callosome v0.351 COX15 Zornitza Stark Gene: cox15 has been classified as Red List (Low Evidence).
Callosome v0.350 COX15 Zornitza Stark reviewed gene: COX15: Rating: RED; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.681 COX15 Zornitza Stark Marked gene: COX15 as ready
Mitochondrial disease v0.681 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Mitochondrial disease v0.681 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mitochondrial disease v0.680 COX15 Zornitza Stark Publications for gene: COX15 were set to
Mitochondrial disease v0.679 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.678 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
Fetal anomalies v0.1719 COX15 Zornitza Stark Marked gene: COX15 as ready
Fetal anomalies v0.1719 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1719 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Fetal anomalies v0.1718 COX15 Zornitza Stark Publications for gene: COX15 were set to
Fetal anomalies v0.1717 COX15 Zornitza Stark Classified gene: COX15 as Amber List (moderate evidence)
Fetal anomalies v0.1717 COX15 Zornitza Stark Gene: cox15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10431 COX15 Zornitza Stark Marked gene: COX15 as ready
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
Fetal anomalies v0.1716 COX15 Zornitza Stark reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 33746038, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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
Fetal anomalies v0.1716 COX10 Zornitza Stark Marked gene: COX10 as ready
Fetal anomalies v0.1716 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1716 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Fetal anomalies v0.1715 COX10 Zornitza Stark Publications for gene: COX10 were set to
Fetal anomalies v0.1714 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Fetal anomalies v0.1714 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1713 COX10 Zornitza Stark changed review comment from: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.; to: More than 5 unrelated families reported, mitochondrial encephalopathy including developmental delay in some, though early severe multi-system disease or regression are the typical patterns of neurological involvement.

At least one individual reported with severe HCM in neonatal period.
Fetal anomalies v0.1713 COX10 Zornitza Stark edited their review of gene: COX10: Changed rating: AMBER
Fetal anomalies v0.1713 Zornitza Stark removed gene:COQ8A from the panel
Fetal anomalies v0.1712 Zornitza Stark removed gene:COQ2 from the panel
Fetal anomalies v0.1711 COQ2 Zornitza Stark Deleted their comment
Fetal anomalies v0.1711 Zornitza Stark removed gene:COMP from the panel
Fetal anomalies v0.1710 Zornitza Stark removed gene:COL9A3 from the panel
Fetal anomalies v0.1709 Zornitza Stark removed gene:COL5A2 from the panel
Fetal anomalies v0.1708 Zornitza Stark removed gene:COL5A1 from the panel
Fetal anomalies v0.1707 Zornitza Stark removed gene:COL4A4 from the panel
Fetal anomalies v0.1706 Zornitza Stark removed gene:COL4A3 from the panel
Fetal anomalies v0.1705 Zornitza Stark removed gene:COL25A1 from the panel
Fetal anomalies v0.1704 Zornitza Stark removed gene:CHRNA4 from the panel
Fetal anomalies v0.1703 CLTC Zornitza Stark Marked gene: CLTC as ready
Fetal anomalies v0.1703 CLTC Zornitza Stark Gene: cltc has been classified as Green List (High Evidence).
Fetal anomalies v0.1703 CLTC Zornitza Stark Phenotypes for gene: CLTC were changed from Fetal growth restriction; Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia to Mental retardation, autosomal dominant 56, MIM# 617854
Fetal anomalies v0.1702 CLTC Zornitza Stark Publications for gene: CLTC were set to 33743358
Fetal anomalies v0.1701 CLTC Zornitza Stark Classified gene: CLTC as Green List (high evidence)
Fetal anomalies v0.1701 CLTC Zornitza Stark Gene: cltc has been classified as Green List (High Evidence).
Fetal anomalies v0.1700 CLTC Zornitza Stark edited their review of gene: CLTC: Added comment: PMID 34230591: review of previously reported cases and report of 3 new cases, including one with prenatally ascertained brain and renal abnormalities.; Changed rating: GREEN; Changed publications: 29100083, 26822784, 34230591
Fetal anomalies v0.1700 Zornitza Stark removed gene:CHRNB2 from the panel
Fetal anomalies v0.1699 Zornitza Stark removed gene:CLN8 from the panel
Fetal anomalies v0.1698 Zornitza Stark removed gene:CLN6 from the panel
Fetal anomalies v0.1697 Zornitza Stark removed gene:CLN5 from the panel
Fetal anomalies v0.1696 Zornitza Stark removed gene:CLN3 from the panel
Fetal anomalies v0.1695 Zornitza Stark removed gene:CLDN19 from the panel
Fetal anomalies v0.1694 Zornitza Stark removed gene:CISD2 from the panel
Fetal anomalies v0.1693 CISD2 Zornitza Stark changed review comment from: Neurodegenerative disorder with hearing and visual impairment, but intellectual disability is not a feature.; to: Neurodegenerative disorder with hearing and visual impairment.
Fetal anomalies v0.1693 Zornitza Stark removed gene:CIB2 from the panel
Fetal anomalies v0.1692 CHRNA4 Zornitza Stark Marked gene: CHRNA4 as ready
Fetal anomalies v0.1692 CHRNA4 Zornitza Stark Gene: chrna4 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1692 CHRNA4 Zornitza Stark Phenotypes for gene: CHRNA4 were changed from NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 to Epilepsy, nocturnal frontal lobe, 1, MIM# 600513
Fetal anomalies v0.1691 CHRNA4 Zornitza Stark Publications for gene: CHRNA4 were set to
Fetal anomalies v0.1690 CHRNA4 Zornitza Stark Mode of inheritance for gene: CHRNA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1689 CHRNA4 Zornitza Stark changed review comment from: ID only reported in one family with this condition.; to: Post-natal onset.
Fetal anomalies v0.1689 CHRDL1 Zornitza Stark Marked gene: CHRDL1 as ready
Fetal anomalies v0.1689 CHRDL1 Zornitza Stark Gene: chrdl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1689 CHRDL1 Zornitza Stark Phenotypes for gene: CHRDL1 were changed from MEGALOCORNEA, X-LINKED to Megalocornea 1, X-linked, MIM# 309300
Fetal anomalies v0.1688 CHRDL1 Zornitza Stark reviewed gene: CHRDL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalocornea 1, X-linked, MIM# 309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Catecholaminergic Polymorphic Ventricular Tachycardia v0.31 TECRL Zornitza Stark Publications for gene: TECRL were set to 17666061; 27861123; 30790670
Catecholaminergic Polymorphic Ventricular Tachycardia v0.30 TECRL Zornitza Stark reviewed gene: TECRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33367594; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021; 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
Fetal anomalies v0.1688 CHD2 Zornitza Stark changed review comment from: Post-natal onset.; to: Post-natal onset for DDE.

Association with ARVC rated LIMITED by ClinGen.
Fetal anomalies v0.1688 CHD2 Zornitza Stark Marked gene: CHD2 as ready
Fetal anomalies v0.1688 CHD2 Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1688 CHD2 Zornitza Stark Phenotypes for gene: CHD2 were changed from EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 94, MIM# 615369
Fetal anomalies v0.1687 CHD2 Zornitza Stark Mode of inheritance for gene: CHD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1686 CHD2 Zornitza Stark reviewed gene: CHD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 94, MIM# 615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1686 CCNO Zornitza Stark Marked gene: CCNO as ready
Fetal anomalies v0.1686 CCNO Zornitza Stark Gene: ccno has been classified as Red List (Low Evidence).
Fetal anomalies v0.1686 CCNO Zornitza Stark Phenotypes for gene: CCNO were changed from CILIARY DYSKINESIA, PRIMARY, 29 to Ciliary dyskinesia, primary, 29 615872
Fetal anomalies v0.1685 CCNO Zornitza Stark Publications for gene: CCNO were set to 30166424
Heterotaxy v1.13 CCDC65 Zornitza Stark Classified gene: CCDC65 as Red List (low evidence)
Heterotaxy v1.13 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Red List (Low Evidence).
Heterotaxy v1.12 CCDC65 Zornitza Stark changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.

Situs inversus not reported.
Heterotaxy v1.12 CCDC65 Zornitza Stark edited their review of gene: CCDC65: Changed rating: RED
Fetal anomalies v0.1684 CCDC65 Zornitza Stark Marked gene: CCDC65 as ready
Fetal anomalies v0.1684 CCDC65 Zornitza Stark Gene: ccdc65 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1684 CCDC65 Zornitza Stark Phenotypes for gene: CCDC65 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 27, MIM# 615504
Fetal anomalies v0.1683 CCDC65 Zornitza Stark Publications for gene: CCDC65 were set to 30166424
Fetal anomalies v0.1682 CCDC65 Zornitza Stark changed review comment from: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.; to: Same homozygous PTC (p.I293Pfs*2) reported in 3 Ashkenzi Jewish families. PMID: 24094744 performs functional assay on null zebrafish model - replicates human phenotype supporting LOF. Three different LoF reported in context of primary ciliary dyskinesia by diagnostic laboratories in ClinVar.

Situs inversus not reported.
Fetal anomalies v0.1682 CCDC65 Zornitza Stark edited their review of gene: CCDC65: Changed rating: RED
Mendeliome v0.10426 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
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
Fetal anomalies v0.1682 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
Fetal anomalies v0.1682 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1682 CCDC115 Zornitza Stark Phenotypes for gene: CCDC115 were changed from Disorder of Golgi homeostasis to Congenital disorder of glycosylation, type IIo, MIM# 616828
Fetal anomalies v0.1681 CCDC115 Zornitza Stark Publications for gene: CCDC115 were set to
Fetal anomalies v0.1680 CCDC115 Zornitza Stark reviewed gene: CCDC115: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIo, MIM# 616828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1680 CC2D1A Zornitza Stark Marked gene: CC2D1A as ready
Fetal anomalies v0.1680 CC2D1A Zornitza Stark Gene: cc2d1a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1680 CC2D1A Zornitza Stark Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Mental retardation, autosomal recessive 3, MIM# 608443
Fetal anomalies v0.1679 CC2D1A Zornitza Stark Publications for gene: CC2D1A were set to
Fetal anomalies v0.1678 CC2D1A Zornitza Stark reviewed gene: CC2D1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 3, MIM# 608443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1678 CBS Zornitza Stark Marked gene: CBS as ready
Fetal anomalies v0.1678 CBS Zornitza Stark Gene: cbs has been classified as Red List (Low Evidence).
Fetal anomalies v0.1678 CBS Zornitza Stark Phenotypes for gene: CBS were changed from CYSTATHIONINE BETA-SYNTHASE DEFICIENCY to Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200
Fetal anomalies v0.1677 CBS Zornitza Stark reviewed gene: CBS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1677 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Fetal anomalies v0.1677 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1677 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 613327 to Lipodystrophy, congenital generalized, type 4 , MIM# 613327
Fetal anomalies v0.1676 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1676 CALCRL Zornitza Stark Marked gene: CALCRL as ready
Fetal anomalies v0.1676 CALCRL Zornitza Stark Gene: calcrl has been classified as Red List (Low Evidence).
Fetal anomalies v0.1676 CAD Zornitza Stark Marked gene: CAD as ready
Fetal anomalies v0.1676 CAD Zornitza Stark Gene: cad has been classified as Red List (Low Evidence).
Fetal anomalies v0.1676 CAD Zornitza Stark Phenotypes for gene: CAD were changed from Uridine-responsive epileptic encephalopathy to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457
Fetal anomalies v0.1675 CAD Zornitza Stark Publications for gene: CAD were set to
Fetal anomalies v0.1674 CAD Zornitza Stark changed review comment from: Four unrelated families (two with same variant and Roma background, likely founder).
Sources: Expert list; to: Four unrelated families (two with same variant and Roma background, likely founder). Onset in infancy.
Sources: Expert list
Fetal anomalies v0.1674 CAD Zornitza Stark edited their review of gene: CAD: Changed rating: RED
Fetal anomalies v0.1674 Zornitza Stark removed gene:C4orf26 from the panel
Fetal anomalies v0.1673 Zornitza Stark removed gene:C2orf71 from the panel
Skeletal dysplasia v0.147 Zornitza Stark removed gene:C2orf71 from the panel
Mendeliome v0.10423 C2orf71 Zornitza Stark Marked gene: C2orf71 as ready
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
Fetal anomalies v0.1672 C2orf71 Zornitza Stark Marked gene: C2orf71 as ready
Fetal anomalies v0.1672 C2orf71 Zornitza Stark Gene: c2orf71 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1672 C2orf71 Zornitza Stark Phenotypes for gene: C2orf71 were changed from RETINITIS PIGMENTOSA 54 to Retinitis pigmentosa 54, MIM# 613428
Fetal anomalies v0.1671 C2orf71 Zornitza Stark edited their review of gene: C2orf71: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1671 C2orf71 Zornitza Stark reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
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
Fetal anomalies v0.1671 SETBP1 Zornitza Stark commented on gene: SETBP1: 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. This disorder typically presents post-natally.
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
Fetal anomalies v0.1671 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150 to Schinzel-Giedion midface retraction syndrome, MIM# 269150
Fetal anomalies v0.1670 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1669 SETBP1 Zornitza Stark reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1669 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Fetal anomalies v0.1668 SCO2 Zornitza Stark Publications for gene: SCO2 were set to 15210538; 18924171
Fetal anomalies v0.1667 SCO2 Zornitza Stark Classified gene: SCO2 as Green List (high evidence)
Fetal anomalies v0.1667 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1666 SCO2 Zornitza Stark changed review comment from: Typically manifests post-natally though rare fetal presentations reported, PMID 15210538.; to: Severe neonatal presentations, and at least two reports of fetal presentations.
Fetal anomalies v0.1666 SCO2 Zornitza Stark edited their review of gene: SCO2: Changed publications: 15210538, 18924171, 22231385
Fetal anomalies v0.1666 SCO2 Zornitza Stark edited their review of gene: SCO2: Changed rating: GREEN; Changed publications: 15210538, 18924171
Fetal anomalies v0.1666 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15210538; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10414 SCN4A Zornitza Stark Marked gene: SCN4A as ready
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
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Marked gene: TRAP1 as ready
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Classified gene: TRAP1 as Green List (high evidence)
Fetal anomalies v0.1666 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1665 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 v0.10410 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
Fetal anomalies v0.1665 SH3PXD2B Seb Lunke Marked gene: SH3PXD2B as ready
Fetal anomalies v0.1665 SH3PXD2B Seb Lunke Gene: sh3pxd2b has been classified as Green List (High Evidence).
Fetal anomalies v0.1665 SH3PXD2B Seb Lunke Phenotypes for gene: SH3PXD2B were changed from FRANK-TER HAAR SYNDROME to Frank-ter Haar syndrome, MIM#249420
Fetal anomalies v0.1664 SH3PXD2B Seb Lunke Publications for gene: SH3PXD2B were set to
Fetal anomalies v0.1663 SH3PXD2B Seb Lunke reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523657, 24105366; Phenotypes: Frank-ter Haar syndrome, MIM#249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1663 SETBP1 Seb Lunke Marked gene: SETBP1 as ready
Fetal anomalies v0.1663 SETBP1 Seb Lunke Added comment: Comment when marking as ready: Well established gene disease association with facial and skeletal abnormalities detectable in utero.
Fetal anomalies v0.1663 SETBP1 Seb Lunke Gene: setbp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1663 SETBP1 Seb Lunke Publications for gene: SETBP1 were set to
Fetal anomalies v0.1662 SETBP1 Seb Lunke Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME to DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150
Fetal anomalies v0.1661 SCO2 Seb Lunke Marked gene: SCO2 as ready
Fetal anomalies v0.1661 SCO2 Seb Lunke Gene: sco2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1661 SCO2 Seb Lunke Phenotypes for gene: SCO2 were changed from FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY
Fetal anomalies v0.1660 SCO2 Seb Lunke Classified gene: SCO2 as Amber List (moderate evidence)
Fetal anomalies v0.1660 SCO2 Seb Lunke Added comment: Comment on list classification: Generally severe, rapidly progressive hypertrophic cardiomyopathy that presents in the neonatal period, early spontaneous abortions and fetal wastage described in one family.
Fetal anomalies v0.1660 SCO2 Seb Lunke Gene: sco2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1659 SCO2 Seb Lunke Publications for gene: SCO2 were set to 15210538; 18924171
Fetal anomalies v0.1658 SCN4A Seb Lunke Marked gene: SCN4A as ready
Fetal anomalies v0.1658 SCN4A Seb Lunke Gene: scn4a has been classified as Green List (High Evidence).
Fetal anomalies v0.1658 SCN4A Seb Lunke Phenotypes for gene: SCN4A were changed from HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS to Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198
Fetal anomalies v0.1657 SCN4A Seb Lunke Publications for gene: SCN4A were set to
Fetal anomalies v0.1656 SCN4A Seb Lunke Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1655 SCN4A Seb Lunke reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26700687; Phenotypes: Congenital myopathy, Myasthenic syndrome, congenital, 16 MIM#614198; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4399 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Intellectual disability syndromic and non-syndromic v0.4399 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4399 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659
Intellectual disability syndromic and non-syndromic v0.4398 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Intellectual disability syndromic and non-syndromic v0.4397 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)
Intellectual disability syndromic and non-syndromic v0.4396 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)
Fetal anomalies v0.1655 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1654 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Fetal anomalies v0.1653 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from tellectual developmental disorder, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, MIM# 300659
Mendeliome v0.10407 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
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)
Overgrowth v1.7 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from Mental retardation, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, OMIM # 300659
Overgrowth v1.6 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to 17668385
Overgrowth v1.5 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Overgrowth v1.4 BRWD3 Zornitza Stark edited their review of gene: BRWD3: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1652 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Fetal anomalies v0.1652 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1652 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from MENTAL RETARDATION X-LINKED TYPE 93 to tellectual developmental disorder, X-linked 93, MIM# 300659
Fetal anomalies v0.1651 BRWD3 Zornitza Stark Classified gene: BRWD3 as Amber List (moderate evidence)
Fetal anomalies v0.1651 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1650 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM# 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10404 ING1 Seb Lunke Deleted their comment
Mendeliome v0.10404 ING1 Seb Lunke Marked gene: ING1 as ready
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).
Fetal anomalies v0.1650 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Fetal anomalies v0.1650 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1650 BRCA1 Zornitza Stark Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY to Fanconi anaemia, complementation group S, MIM# 617883
Fetal anomalies v0.1649 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Fetal anomalies v0.1649 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1648 BRCA1 Zornitza Stark reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group S, MIM# 617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10403 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
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
Fetal anomalies v0.1648 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Fetal anomalies v0.1648 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Red List (Low Evidence).
Fetal anomalies v0.1648 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from MAPLE SYRUP URINE DISEASE to Maple syrup urine disease, type Ib, MIM# 248600
Fetal anomalies v0.1647 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10400 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
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
Fetal anomalies v0.1647 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Fetal anomalies v0.1647 BCKDHA Zornitza Stark Gene: bckdha has been classified as Red List (Low Evidence).
Fetal anomalies v0.1647 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from MAPLE SYRUP URINE DISEASE to Maple syrup urine disease, type Ia, MIM# 248600
Fetal anomalies v0.1646 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10397 FSCN2 Seb Lunke Marked gene: FSCN2 as ready
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).
Retinitis pigmentosa_Autosomal Dominant v0.34 FSCN2 Seb Lunke Marked gene: FSCN2 as ready
Retinitis pigmentosa_Autosomal Dominant v0.34 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.34 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from Retinitis pigmentosa 30, 607921 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
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
Macular Dystrophy/Stargardt Disease v0.31 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from Retinitis pigmentosa 30, 607921 to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Cerebellar and Pontocerebellar Hypoplasia v1.24 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
Cerebellar and Pontocerebellar Hypoplasia v1.23 AUTS2 Zornitza Stark reviewed gene: AUTS2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: None
Cerebral Palsy v1.21 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
Cerebral Palsy v1.20 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Intellectual disability syndromic and non-syndromic v0.4396 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
Intellectual disability syndromic and non-syndromic v0.4395 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Tag SV/CNV tag was added to gene: AUTS2.
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Marked gene: AUTS2 as ready
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Added comment: Comment when marking as ready: Note CNVs common.
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Gene: auts2 has been classified as Green List (High Evidence).
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
Fetal anomalies v0.1646 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Fetal anomalies v0.1645 AUTS2 Zornitza Stark Publications for gene: AUTS2 were set to
Fetal anomalies v0.1644 AUTS2 Zornitza Stark Mode of inheritance for gene: AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1643 AUTS2 Zornitza Stark Classified gene: AUTS2 as Green List (high evidence)
Fetal anomalies v0.1643 AUTS2 Zornitza Stark Gene: auts2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1642 AUTS2 Zornitza Stark changed review comment from: Mental retardation, autosomal dominant 26, MIM#615834; to: Low birth weight and microcephaly reported.
Fetal anomalies v0.1642 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 Marked gene: AUH as ready
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
Fetal anomalies v0.1642 AUH Zornitza Stark Marked gene: AUH as ready
Fetal anomalies v0.1642 AUH Zornitza Stark Gene: auh has been classified as Red List (Low Evidence).
Fetal anomalies v0.1642 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-METHYLGLUTACONIC ACIDURIA TYPE 1 to 3-methylglutaconic aciduria, type I, MIM# 250950
Fetal anomalies v0.1641 AUH Zornitza Stark reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.218 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Cholestasis v0.218 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Cholestasis v0.218 ATP8B1 Zornitza Stark Publications for gene: ATP8B1 were set to
Cholestasis v0.217 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
Cholestasis v0.216 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 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.
Cholestasis v0.216 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.
Cholestasis v0.216 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, 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
Cholestasis v0.216 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
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
Cholestasis v0.215 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Cholestasis v0.214 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: 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
Cholestasis v0.214 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 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
Fetal anomalies v0.1641 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Fetal anomalies v0.1641 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1641 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, progressive familial intrahepatic 1, MIM# 211600
Fetal anomalies v0.1640 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1640 ATP6V1B1 Zornitza Stark Marked gene: ATP6V1B1 as ready
Fetal anomalies v0.1640 ATP6V1B1 Zornitza Stark Gene: atp6v1b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1640 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Fetal anomalies v0.1639 ATP6V1B1 Zornitza Stark reviewed gene: ATP6V1B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1639 ATP1A3 Zornitza Stark Marked gene: ATP1A3 as ready
Fetal anomalies v0.1639 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1639 ATP1A3 Zornitza Stark Phenotypes for gene: ATP1A3 were changed from RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, MIM# 619606; Polymicrogyria
Fetal anomalies v0.1638 ATP1A3 Zornitza Stark Publications for gene: ATP1A3 were set to
Fetal anomalies v0.1637 ATP1A3 Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1636 ATP1A3 Zornitza Stark Classified gene: ATP1A3 as Green List (high evidence)
Fetal anomalies v0.1636 ATP1A3 Zornitza Stark Gene: atp1a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1635 ATP1A3 Zornitza Stark edited their review of gene: ATP1A3: Added comment: Individuals with PMG reported.; Changed publications: 33762331, 33880529; Changed phenotypes: Developmental and epileptic encephalopathy 99, MIM# 619606, Polymicrogyria
Fetal anomalies v0.1635 ATP1A3 Zornitza Stark Deleted their comment
Fetal anomalies v0.1635 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Fetal anomalies v0.1635 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1635 ATP13A2 Zornitza Stark Phenotypes for gene: ATP13A2 were changed from PARKINSON DISEASE 9 to Kufor-Rakeb syndrome, MIM# 606693; Spastic paraplegia 78, autosomal recessive, MIM# 617225
Fetal anomalies v0.1634 ATP13A2 Zornitza Stark reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693, Spastic paraplegia 78, autosomal recessive, MIM# 617225; Mode of inheritance: None
Fetal anomalies v0.1634 ATM Zornitza Stark Marked gene: ATM as ready
Fetal anomalies v0.1634 ATM Zornitza Stark Gene: atm has been classified as Red List (Low Evidence).
Fetal anomalies v0.1634 ATM Zornitza Stark Phenotypes for gene: ATM were changed from ATAXIA-TELANGIECTASIA to Ataxia-telangiectasia, MIM# 208900
Fetal anomalies v0.1633 ATM Zornitza Stark reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia-telangiectasia, MIM# 208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1633 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Fetal anomalies v0.1633 ACAT1 Zornitza Stark Gene: acat1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1633 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from ALPHA-METHYLACETOACETIC ACIDURIA to Alpha-methylacetoacetic aciduria, MIM# 203750
Fetal anomalies v0.1632 ACADS Zornitza Stark Marked gene: ACADS as ready
Fetal anomalies v0.1632 ACADS Zornitza Stark Gene: acads has been classified as Red List (Low Evidence).
Fetal anomalies v0.1632 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Fetal anomalies v0.1631 ACADM Zornitza Stark Marked gene: ACADM as ready
Fetal anomalies v0.1631 ACADM Zornitza Stark Gene: acadm has been classified as Red List (Low Evidence).
Fetal anomalies v0.1631 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Mendeliome v0.10384 RNF213 Zornitza Stark Marked gene: RNF213 as ready
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 Marked gene: DRD5 as ready
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 Marked gene: AXIN1 as ready
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
Fetal anomalies v0.1630 ASL Zornitza Stark Marked gene: ASL as ready
Fetal anomalies v0.1630 ASL Zornitza Stark Gene: asl has been classified as Red List (Low Evidence).
Mendeliome v0.10378 ASL Zornitza Stark Marked gene: ASL as ready
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
Fetal anomalies v0.1630 ASL Zornitza Stark Phenotypes for gene: ASL were changed from ARGININOSUCCINATE LYASE DEFICIENCY to Argininosuccinic aciduria, MIM#207900
Mendeliome v0.10376 ASL Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1629 ASL Zornitza Stark changed review comment from: Intellectual disability is a feature of this metabolic condition.; to: Onset is typically post-natal.
Fetal anomalies v0.1629 ASL Zornitza Stark edited their review of gene: ASL: Changed rating: RED
Mendeliome v0.10375 ARG1 Zornitza Stark Marked gene: ARG1 as ready
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
Fetal anomalies v0.1629 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Fetal anomalies v0.1629 ARG1 Zornitza Stark Gene: arg1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1629 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from ARGININEMIA to Argininaemia, MIM# 207800
Fetal anomalies v0.1628 ARG1 Zornitza Stark reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia, MIM# 207800; Mode of inheritance: 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
Fetal anomalies v0.1628 TWIST2 Zornitza Stark Publications for gene: TWIST2 were set to 26119818
Fetal anomalies v0.1627 TWIST2 Zornitza Stark Mode of inheritance for gene: TWIST2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to 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
Ataxia - paediatric v0.300 APTX Zornitza Stark Marked gene: APTX as ready
Ataxia - paediatric v0.300 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Ataxia - paediatric v0.300 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Ataxia with Oculomotor Apraxia; Early onset ataxia with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Ataxia - paediatric v0.299 APTX Zornitza Stark Publications for gene: APTX were set to
Ataxia - paediatric v0.298 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 v0.10369 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
Fetal anomalies v0.1626 APTX Zornitza Stark Marked gene: APTX as ready
Fetal anomalies v0.1626 APTX Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence).
Fetal anomalies v0.1626 APTX Zornitza Stark Phenotypes for gene: APTX were changed from ATAXIA WITH OCULOMOTOR APRAXIA 1 to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920
Fetal anomalies v0.1625 APTX Zornitza Stark edited their review of gene: APTX: Changed phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia, MIM#208920
Fetal anomalies v0.1625 APTX Zornitza Stark changed review comment from: Progressive neurological condition, including cognitive deterioration in some but not truly intellectual disability.; to: Progressive neurological condition, post-natal onset.
Fetal anomalies v0.1625 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Fetal anomalies v0.1625 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1625 APOPT1 Zornitza Stark Phenotypes for gene: APOPT1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061
Fetal anomalies v0.1624 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to
Fetal anomalies v0.1623 APOPT1 Zornitza Stark changed review comment from: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.

Clinical presentation is typically in childhood.; to: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.

Clinical presentation is typically in early childhood.
Fetal anomalies v0.1623 APOPT1 Zornitza Stark changed review comment from: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.; to: 6 individuals from 5 unrelated families reported, presenting in late infancy or early childhood with evidence of complex IV deficiency. Phenotype varied widely. Five individuals had episodes of neurologic regression manifest as gait difficulties and spastic tetraparesis, sensorimotor polyneuropathy, and dysarthria that in some cases improved over time. The sixth individual never developed neurologic signs. Three had normal cognition and 3 had impaired cognition. Brain imaging showed a cavitating leukodystrophy, predominantly affecting the posterior cerebral white matter and corpus callosum, that stabilized or even improved over time.

Clinical presentation is typically in childhood.
Fetal anomalies v0.1623 APOPT1 Zornitza Stark edited their review of gene: APOPT1: Changed rating: RED
Fetal anomalies v0.1623 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Fetal anomalies v0.1623 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1623 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from Hermansky-Pudlak syndrome 2 608233 to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Fetal anomalies v0.1622 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Fetal anomalies v0.1621 AP3B1 Zornitza Stark reviewed gene: AP3B1: Rating: RED; Mode of pathogenicity: None; Publications: 10024875, 11809908, 14566336; Phenotypes: Hermansky-Pudlak syndrome 2, MIM# 608233, MONDO:0011997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1621 ANO5 Zornitza Stark Marked gene: ANO5 as ready
Fetal anomalies v0.1621 ANO5 Zornitza Stark Gene: ano5 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1621 ANO5 Zornitza Stark Phenotypes for gene: ANO5 were changed from GNATHODIAPHYSEAL DYSPLASIA; MIYOSHI MUSCULAR DYSTROPHY TYPE 3 to Gnathodiaphyseal dysplasia, MIM# 166260; Miyoshi muscular dystrophy 3, MIM# 613319; Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307
Fetal anomalies v0.1620 ANO5 Zornitza Stark reviewed gene: ANO5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gnathodiaphyseal dysplasia, MIM# 166260, Miyoshi muscular dystrophy 3, MIM# 613319, Muscular dystrophy, limb-girdle, autosomal recessive 12, MIM# 611307; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1620 ALS2 Zornitza Stark Marked gene: ALS2 as ready
Fetal anomalies v0.1620 ALS2 Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1620 ALS2 Zornitza Stark Phenotypes for gene: ALS2 were changed from ALS2-RELATED DISORDERS to Spastic paralysis, infantile onset ascending, MIM#607225
Fetal anomalies v0.1619 ALS2 Zornitza Stark changed review comment from: Progressive neurological conditions, but cognition is normal.; to: Progressive neurological condition, onset is post-natal.
Fetal anomalies v0.1619 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Fetal anomalies v0.1619 ALDOB Zornitza Stark Gene: aldob has been classified as Red List (Low Evidence).
Fetal anomalies v0.1619 ALDOB Zornitza Stark Phenotypes for gene: ALDOB were changed from HEREDITARY FRUCTOSE INTOLERANCE to Fructose intolerance, hereditary, MIM#229600
Fetal anomalies v0.1618 ALDOB Zornitza Stark changed review comment from: ID is not an intrinsic feature of this condition; most reported individuals have had normal cognition; to: Presentation is typically post-natal.
Fetal anomalies v0.1618 ALDOB Zornitza Stark Deleted their comment
Fetal anomalies v0.1618 ALDH5A1 Zornitza Stark Marked gene: ALDH5A1 as ready
Fetal anomalies v0.1618 ALDH5A1 Zornitza Stark Gene: aldh5a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1618 ALDH5A1 Zornitza Stark Phenotypes for gene: ALDH5A1 were changed from SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Fetal anomalies v0.1617 ALDH5A1 Zornitza Stark Publications for gene: ALDH5A1 were set to
Fetal anomalies v0.1616 ALDH5A1 Zornitza Stark changed review comment from: Over 50 unrelated families reported. Intellectual disability is part of the phenotype, which also includes developmental delay, hypotonia, ataxia, seizures, hyperkinetic behaviour, aggression, and sleep disturbances.; to: Over 50 unrelated families reported. Typically presents post-natally with intellectual disability, hypotonia, ataxia, seizures, hyperkinetic behaviour, aggression, and sleep disturbances.
Fetal anomalies v0.1616 ALDH5A1 Zornitza Stark edited their review of gene: ALDH5A1: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.4395 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Intellectual disability syndromic and non-syndromic v0.4395 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4395 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Intellectual disability syndromic and non-syndromic v0.4394 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to
Intellectual disability syndromic and non-syndromic v0.4393 ALDH4A1 Zornitza Stark Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4392 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9700195, 34037900, 31884946; Phenotypes: Hyperprolinemia, type II MIM#239510, disorders of ornithine or proline metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
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
Fetal anomalies v0.1616 TWIST2 Alison Yeung Marked gene: TWIST2 as ready
Fetal anomalies v0.1616 TWIST2 Alison Yeung Added comment: Comment when marking as ready: Congenital conditions associated with multiple fetal anomalies including ambiguous genitalia, microtia, macrostomia
Fetal anomalies v0.1616 TWIST2 Alison Yeung Gene: twist2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1616 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Fetal anomalies v0.1616 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1616 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from HYPERPROLINEMIA TYPE 2 to Hyperprolinaemia, type II, MIM# 239510
Fetal anomalies v0.1615 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1615 TWIST2 Alison Yeung reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403; 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; Current diagnostic: yes
Fetal anomalies v0.1615 TXNL4A Zornitza Stark Tag SV/CNV tag was added to gene: TXNL4A.
Tag 5'UTR tag was added to gene: TXNL4A.
Fetal anomalies v0.1615 TXNL4A Zornitza Stark Phenotypes for gene: TXNL4A were changed from BURN MCKEOWN SYNDROME to Burn-McKeown syndrome, MIM# 608572
Fetal anomalies v0.1614 TXNL4A Zornitza Stark Publications for gene: TXNL4A were set to
Fetal anomalies v0.1613 TXNL4A Zornitza Stark Deleted their review
Mendeliome v0.10363 VLDLR Zornitza Stark Marked gene: VLDLR as ready
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
Fetal anomalies v0.1613 VLDLR Zornitza Stark Deleted their review
Fetal anomalies v0.1613 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Fetal anomalies v0.1612 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Fetal anomalies v0.1611 TXNL4A Alison Yeung Marked gene: TXNL4A as ready
Fetal anomalies v0.1611 TXNL4A Alison Yeung Gene: txnl4a has been classified as Green List (High Evidence).
Fetal anomalies v0.1611 TXNL4A Alison Yeung reviewed gene: TXNL4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25434003; Phenotypes: BURN-MCKEOWN SYNDROME, MIM# 608572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1611 VLDLR Alison Yeung Marked gene: VLDLR as ready
Fetal anomalies v0.1611 VLDLR Alison Yeung Gene: vldlr has been classified as Green List (High Evidence).
Fetal anomalies v0.1611 VLDLR Alison Yeung 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; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Marked gene: CSTF2 as ready
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Classified gene: CSTF2 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4392 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4391 CSTF2 Zornitza Stark gene: CSTF2 was added
gene: CSTF2 was added to Intellectual disability syndromic and non-syndromic. 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 v0.10360 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 Marked gene: ALAD as ready
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
Fetal anomalies v0.1611 ALAD Zornitza Stark Marked gene: ALAD as ready
Fetal anomalies v0.1611 ALAD Zornitza Stark Gene: alad has been classified as Red List (Low Evidence).
Fetal anomalies v0.1611 ALAD Zornitza Stark Phenotypes for gene: ALAD were changed from ACUTE HEPATIC PORPHYRIA to Porphyria, acute hepatic , MIM#612740
Fetal anomalies v0.1610 ALAD Zornitza Stark reviewed gene: ALAD: Rating: RED; Mode of pathogenicity: None; Publications: ; 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 Marked gene: HMGCR as ready
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
Intellectual disability syndromic and non-syndromic v0.4390 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Intellectual disability syndromic and non-syndromic v0.4390 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4390 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Intellectual disability syndromic and non-syndromic v0.4389 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Intellectual disability syndromic and non-syndromic v0.4388 FLVCR2 Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4387 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
Hydrocephalus_Ventriculomegaly v0.110 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Hydrocephalus_Ventriculomegaly v0.110 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.110 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Hydrocephalus_Ventriculomegaly v0.109 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Hydrocephalus_Ventriculomegaly v0.108 FLVCR2 Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus_Ventriculomegaly v0.107 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 v0.10352 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
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
Fetal anomalies v0.1610 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Fetal anomalies v0.1610 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1610 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Fetal anomalies v0.1609 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Fetal anomalies v0.1608 FLVCR2 Zornitza Stark edited their review of gene: FLVCR2: Added comment: The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a (usually) prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation.

At least 5 unrelated families reported.; Changed rating: GREEN; Changed publications: 30712878, 20206334, 20518025, 20690116, 25677735; Changed phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
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
Fetal anomalies v0.1608 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Fetal anomalies v0.1608 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1608 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from MILROY DISEASE to Congenital heart defects, multiple types, 7, MIM# 618780; Lymphatic malformation 1, MIM# 153100
Fetal anomalies v0.1607 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Fetal anomalies v0.1606 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1605 FLT4 Zornitza Stark reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9817924, 10835628, 12960217; Phenotypes: Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1605 FLNB Zornitza Stark Marked gene: FLNB as ready
Fetal anomalies v0.1605 FLNB Zornitza Stark Gene: flnb has been classified as Green List (High Evidence).
Fetal anomalies v0.1605 FLNB Zornitza Stark Phenotypes for gene: FLNB were changed from BOOMERANG DYSPLASIA; SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; ATELOSTEOGENESIS TYPE 3; AUTOSOMAL DOMINANT LARSEN SYNDROME; ATELOSTEOGENESIS TYPE 1 to Larsen syndrome, MIM#150250; Atelosteogenesis, type I, MIM# 108720; Atelosteogenesis, type III, MIM# 108721; Boomerang dysplasia, MIM# 112310; Spondylocarpotarsal synostosis syndrome, MIM# 272460
Fetal anomalies v0.1604 FLNB Zornitza Stark changed review comment from: Gene associated with a number of skeletal dysplasias, ID not typically a feature.; to: Gene associated with a number of skeletal dysplasias, which are relevant to the pre-natal setting.
Fetal anomalies v0.1604 FLNB Zornitza Stark edited their review of gene: FLNB: Changed rating: GREEN; Changed phenotypes: Larsen syndrome, MIM#150250, Atelosteogenesis, type I, MIM# 108720, Atelosteogenesis, type III, MIM# 108721, Boomerang dysplasia, MIM# 112310, Spondylocarpotarsal synostosis syndrome, MIM# 272460; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark Deleted their review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark edited their review of gene: STAG3: Changed phenotypes: Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.280 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672 to Premature ovarian failure 8 MIM#615723
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.279 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903; 31125047; 31682730; 32634216
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.278 STAG3 Zornitza Stark Deleted their comment
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
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.278 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
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.277 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.276 STAG3 Zornitza Stark Mode of inheritance for gene: STAG3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.275 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
Fetal anomalies v0.1604 FLNA Zornitza Stark Marked gene: FLNA as ready
Fetal anomalies v0.1604 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Fetal anomalies v0.1604 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from PERIVENTRICULAR NODULAR HETEROTOPIA TYPE 1; EPILEPTIC ENCEPHALOPATHY; FG SYNDROME TYPE 2; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION; MELNICK-NEEDLES SYNDROME; FRONTOMETAPHYSEAL DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 2; TERMINAL OSSEOUS DYSPLASIA; OTOPALATODIGITAL SYNDROME TYPE 1 to Melnick-Needles syndrome, 309350; Otopalatodigital syndrome, type I 311300; Otopalatodigital syndrome, type II 304120; Terminal osseous dysplasia 300244; Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400
Fetal anomalies v0.1603 FLNA Zornitza Stark Publications for gene: FLNA were set to 30712878; 28425981
Fetal anomalies v0.1602 FLNA Zornitza Stark changed review comment from: Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs
Sources: Expert list; to: Multiple FLNA-related disorders are relevant to this panel.

Melnick-Needles associated with radial shortening in affected women. Male fetuses reported with absent thumbs
Sources: Expert list
Fetal anomalies v0.1602 FLNA Zornitza Stark edited their review of gene: FLNA: Changed phenotypes: Melnick-Needles syndrome, 309350, Otopalatodigital syndrome, type I 311300, Otopalatodigital syndrome, type II 304120, Terminal osseous dysplasia 300244, Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400
Fetal anomalies v0.1602 FKTN Zornitza Stark Marked gene: FKTN as ready
Fetal anomalies v0.1602 FKTN Zornitza Stark Gene: fktn has been classified as Green List (High Evidence).
Fetal anomalies v0.1602 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4; CARDIOMYOPATHY DILATED TYPE 1X; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Fetal anomalies v0.1601 FKTN Zornitza Stark Publications for gene: FKTN were set to
Fetal anomalies v0.1600 FKTN Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Brain abnormalities are part of the more severe end of the spectrum.
Fetal anomalies v0.1600 FKTN Zornitza Stark edited their review of gene: FKTN: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Fetal anomalies v0.1600 FKRP Zornitza Stark Marked gene: FKRP as ready
Fetal anomalies v0.1600 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Fetal anomalies v0.1600 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
Fetal anomalies v0.1599 FKRP Zornitza Stark Publications for gene: FKRP were set to
Fetal anomalies v0.1598 FKRP Zornitza Stark edited their review of gene: FKRP: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
Fetal anomalies v0.1598 FKRP Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Brain abnormalities at the more severe end of the spectrum.
Fetal anomalies v0.1598 FH Zornitza Stark Marked gene: FH as ready
Fetal anomalies v0.1598 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Fetal anomalies v0.1598 FH Zornitza Stark Phenotypes for gene: FH were changed from FUMARASE DEFICIENCY to Fumarase deficiency, MIM# 606812
Fetal anomalies v0.1597 FH Zornitza Stark Publications for gene: FH were set to
Fetal anomalies v0.1596 FH Zornitza Stark changed review comment from: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.
Sources: Expert list; to: Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.

Polymicrogyria and CC abnormalities reported.

Sources: Expert list
Fetal anomalies v0.1596 FH Zornitza Stark edited their review of gene: FH: Changed rating: GREEN; Changed phenotypes: Fumarase deficiency, MIM# 606812
Fetal anomalies v0.1596 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Fetal anomalies v0.1596 FGFR3 Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1596 FGFR3 Zornitza Stark Phenotypes for gene: FGFR3 were changed from CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; ACHONDROPLASIA; THANATOPHORIC DYSPLASIA TYPE 2; HYPOCHONDROPLASIA; MUENKE SYNDROME; THANATOPHORIC DYSPLASIA TYPE 1; CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS to LADD syndrome, MIM#149730; Achondroplasia, MIM# 100800; Thanatophoric dysplasia, type I, MIM# 187600; Thanatophoric dysplasia, type II, MIM# 187601
Fetal anomalies v0.1595 FGFR3 Zornitza Stark Mode of inheritance for gene: FGFR3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1594 FGFR3 Zornitza Stark changed review comment from: Well established gene-disease association. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome.
Sources: Expert list; to: Well established gene-disease association with skeletal dysplasias of variable severity, including perinatal lethal. Variable radial ray defects (at the most severe, bilateral radial aplasia) are a feature of LADD syndrome.
Sources: Expert list
Fetal anomalies v0.1594 FGFR3 Zornitza Stark edited their review of gene: FGFR3: Changed phenotypes: LADD syndrome, MIM#149730, Achondroplasia, MIM# 100800, Thanatophoric dysplasia, type I, MIM# 187600, Thanatophoric dysplasia, type II, MIM# 187601
Fetal anomalies v0.1594 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Fetal anomalies v0.1594 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1594 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from JACKSON-WEISS SYNDROME; FAMILIAL SCAPHOCEPHALY SYNDROME; CROUZON SYNDROME; LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME; BEARE-STEVENSON CUTIS GYRATA SYNDROME; ACROCEPHALOSYNDACTYLY TYPE V; APERT SYNDROME; ANTLEY-BIXLER SYNDROME to LADD syndrome, MIM#149730; Apert syndrome, MIM# 101200; Crouzon syndrome, MIM# 123500; Jackson-Weiss syndrome, MIM# 123150; Pfeiffer syndrome, MIM# 101600; Saethre-Chotzen syndrome, MIM# 101400
Fetal anomalies v0.1593 FGFR2 Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1592 FGFR2 Zornitza Stark changed review comment from: Well established gene-disease association. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list; to: Well established gene-disease association with multiple craniosynostosis syndromes. Radial ray abnormalities are a feature of LADD syndrome.
Sources: Expert list
Fetal anomalies v0.1592 FGFR2 Zornitza Stark edited their review of gene: FGFR2: Changed phenotypes: LADD syndrome, MIM#149730, Apert syndrome, MIM# 101200, Crouzon syndrome, MIM# 123500, Jackson-Weiss syndrome, MIM# 123150, Pfeiffer syndrome, MIM# 101600, Saethre-Chotzen syndrome, MIM# 101400
Fetal anomalies v0.1592 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Fetal anomalies v0.1592 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1592 FGFR1 Zornitza Stark Phenotypes for gene: FGFR1 were changed from Hartsfield syndrome; Encephalocraniocutaneous lipomatosis; OSTEOGLOPHONIC DYSPLASIA; KALLMANN SYNDROME TYPE 2; PFEIFFER SYNDROME; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM to Pfeiffer syndrome, MIM# 101600
Fetal anomalies v0.1591 FGFR1 Zornitza Stark Mode of pathogenicity for gene: FGFR1 was changed from to Other
Fetal anomalies v0.1590 FGFR1 Zornitza Stark Mode of inheritance for gene: FGFR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1589 FGF3 Zornitza Stark Marked gene: FGF3 as ready
Fetal anomalies v0.1589 FGF3 Zornitza Stark Gene: fgf3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1589 FGF3 Zornitza Stark Phenotypes for gene: FGF3 were changed from DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706
Fetal anomalies v0.1588 FGF3 Zornitza Stark Publications for gene: FGF3 were set to
Fetal anomalies v0.1587 FGF3 Zornitza Stark changed review comment from: Most features would not be detectable antenatally, but micrognathia may be evident.; to: Most features would not be detectable antenatally, but micrognathia may be evident.

Over 50 affected individuals reported, functional data including animal models, expression studies and in vitro functional assays.
Fetal anomalies v0.1587 FGF3 Zornitza Stark edited their review of gene: FGF3: Changed publications: 21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125
Fetal anomalies v0.1587 FGF3 Zornitza Stark changed review comment from: Delay in gross motor skills thought to be related to balance issues, not truly ID.; to: Most features would not be detectable antenatally, but micrognathia may be evident.
Fetal anomalies v0.1587 FGF3 Zornitza Stark edited their review of gene: FGF3: Changed rating: GREEN
Fetal anomalies v0.1587 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Fetal anomalies v0.1587 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Fetal anomalies v0.1587 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from LADD SYNDROME to Lacrimoauriculodentodigital syndrome (149730)
Fetal anomalies v0.1586 FGF10 Zornitza Stark Publications for gene: FGF10 were set to
Fetal anomalies v0.1585 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1584 FGD1 Zornitza Stark Marked gene: FGD1 as ready
Fetal anomalies v0.1584 FGD1 Zornitza Stark Gene: fgd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1584 FGD1 Zornitza Stark Phenotypes for gene: FGD1 were changed from AARSKOG-SCOTT SYNDROME to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400
Fetal anomalies v0.1583 FGD1 Zornitza Stark Publications for gene: FGD1 were set to
Fetal anomalies v0.1582 FGD1 Zornitza Stark changed review comment from: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature.

Numerous cases reported with variants in FGD1 gene with replication over time.; to: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature.

Cleft lip/palate reported.

Numerous cases reported with variants in FGD1 gene with replication over time.
Fetal anomalies v0.1582 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Fetal anomalies v0.1582 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1582 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Fetal anomalies v0.1581 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Fetal anomalies v0.1580 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Fetal anomalies v0.1580 FBN2 Zornitza Stark Gene: fbn2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1580 FBN2 Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.1579 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Fetal anomalies v0.1579 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1579 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Marfan syndrome, MIM# 154700
Fetal anomalies v0.1578 FBN1 Zornitza Stark Publications for gene: FBN1 were set to 30266093
Cutis Laxa v0.10 FBLN5 Zornitza Stark changed review comment from: >3 families reported and functional data including mouse model.
Sources: Expert list; to: >3 families reported and functional data including mouse model.

Single report of mono-allelic variant (large intragenic duplication).

Sources: Expert list
Cutis Laxa v0.10 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Cutis Laxa v0.10 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Cutis Laxa v0.10 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434 to Cutis laxa, autosomal recessive, type IA MIM#219100; Cutis laxa, autosomal dominant 2 MIM#614434
Cutis Laxa v0.9 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Genetic Epilepsy v0.1413 CSNK2B Emma Goss reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34041744 DOI: 10.1111/epi.16931; Phenotypes: genetic epilepsy, developmental delay, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10341 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
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
Fetal anomalies v0.1577 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Fetal anomalies v0.1577 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1577 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from Cutis laxa 219100; Cutis laxa 614434 to Cutis laxa, autosomal recessive, type IA, MIM#219100
Fetal anomalies v0.1576 FBLN5 Zornitza Stark changed review comment from: ID is not typically a feature.; to: Fetal overgrowth, CDH and joint dislocations/bone fractures reported.
Fetal anomalies v0.1576 FBLN5 Zornitza Stark edited their review of gene: FBLN5: Changed rating: GREEN
Fetal anomalies v0.1576 FAR1 Zornitza Stark Marked gene: FAR1 as ready
Fetal anomalies v0.1576 FAR1 Zornitza Stark Gene: far1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1576 FAR1 Zornitza Stark Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338
Fetal anomalies v0.1575 FAR1 Zornitza Stark Publications for gene: FAR1 were set to
Fetal anomalies v0.1574 FAR1 Zornitza Stark Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1573 FANCI Zornitza Stark Marked gene: FANCI as ready
Fetal anomalies v0.1573 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Fetal anomalies v0.1573 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from FANCI-RELATED FANCONI ANEMIA; FANCONI ANEMIA to Fanconi anaemia, complementation group I, MIM# 609053; MONDO:0012186
Fetal anomalies v0.1572 FANCI Zornitza Stark Publications for gene: FANCI were set to
Fetal anomalies v0.1571 FANCG Zornitza Stark Marked gene: FANCG as ready
Fetal anomalies v0.1571 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Fetal anomalies v0.1571 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP G to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Fetal anomalies v0.1570 FANCG Zornitza Stark Publications for gene: FANCG were set to
Fetal anomalies v0.1569 FANCF Zornitza Stark Marked gene: FANCF as ready
Fetal anomalies v0.1569 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Fetal anomalies v0.1569 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP F to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Fetal anomalies v0.1568 FANCF Zornitza Stark Publications for gene: FANCF were set to
Fetal anomalies v0.1567 FANCE Zornitza Stark Marked gene: FANCE as ready
Fetal anomalies v0.1567 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Fetal anomalies v0.1567 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP E to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Fetal anomalies v0.1566 FANCE Zornitza Stark Publications for gene: FANCE were set to
Fetal anomalies v0.1565 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Fetal anomalies v0.1565 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1565 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP D2 to Fanconi anaemia, complementation group D2, MIM# 227646
Fetal anomalies v0.1564 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Fetal anomalies v0.1563 FANCC Zornitza Stark Marked gene: FANCC as ready
Fetal anomalies v0.1563 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Fetal anomalies v0.1563 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP C to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Fetal anomalies v0.1562 FANCC Zornitza Stark Publications for gene: FANCC were set to
Fetal anomalies v0.1561 FANCB Zornitza Stark Marked gene: FANCB as ready
Fetal anomalies v0.1561 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Fetal anomalies v0.1561 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from FANCB-RELATED FANCONI ANEMIA to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351
Fetal anomalies v0.1560 FANCB Zornitza Stark Publications for gene: FANCB were set to 28425981
Fetal anomalies v0.1559 FANCA Zornitza Stark Marked gene: FANCA as ready
Fetal anomalies v0.1559 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Fetal anomalies v0.1559 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP A to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Fetal anomalies v0.1558 FANCA Zornitza Stark Publications for gene: FANCA were set to
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).
Additional findings_Paediatric v0.266 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from Myopathy and cardiomyopathy MIM#160760 to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262
Additional findings_Paediatric v0.265 MYH7 Zornitza Stark edited their review of gene: MYH7: Changed phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600, Laing early-onset distal myopathy, MONDO:0008050, Left ventricular noncompaction 5, OMIM:613426, Cardiomyopathy, dilated, 1S, OMIM:613426, Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262
Additional findings_Paediatric v0.265 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600 Laing early-onset distal myopathy, MONDO:0008050 Left ventricular noncompaction 5, OMIM:613426 Cardiomyopathy, dilated, 1S, OMIM:613426 Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262; Mode of inheritance: None
Fetal anomalies v0.1557 SCN2A Zornitza Stark reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: None
Fetal anomalies v0.1557 SCN2A Zornitza Stark Phenotypes for gene: SCN2A were changed from Developmental and epileptic encephalopathy 11, MIM#182390 to Developmental and epileptic encephalopathy 11, MIM#613721
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
Fetal anomalies v0.1556 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from Progressive cerebella-cerebral atrophy type 2; PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to Pontocerebellar hypoplasia, type 2E, OMIM #615851
Fetal anomalies v0.1555 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Fetal anomalies v0.1555 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
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Marked gene: VPS53 as ready
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Gene: vps53 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4387 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, OMIM #615851
Intellectual disability syndromic and non-syndromic v0.4386 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Intellectual disability syndromic and non-syndromic v0.4385 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4384 VPS53 Zornitza Stark changed review comment from: Multiple Moroccan Jewish families reported, segregating two founder variants.; to: Multiple Moroccan Jewish families reported, segregating two founder variants. ID is part of the phenotype.
Intellectual disability syndromic and non-syndromic v0.4384 VPS53 Zornitza Stark 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 v0.10330 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 Marked gene: NKX2-6 as ready
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
Congenital Heart Defect v0.168 NKX2-6 Zornitza Stark Marked gene: NKX2-6 as ready
Congenital Heart Defect v0.168 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.168 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Congenital Heart Defect v0.167 NKX2-6 Zornitza Stark Publications for gene: NKX2-6 were set to
Congenital Heart Defect v0.166 NKX2-6 Zornitza Stark Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1555 NKX2-6 Zornitza Stark Publications for gene: NKX2-6 were set to 24421281; 15649947
Fetal anomalies v0.1554 NKX2-6 Zornitza Stark Classified gene: NKX2-6 as Green List (high evidence)
Fetal anomalies v0.1554 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1553 NKX2-6 Zornitza Stark Deleted their comment
Fetal anomalies v0.1553 NKX2-6 Zornitza Stark edited their review of gene: NKX2-6: Changed rating: GREEN
Fetal anomalies v0.1553 WNT10B Zornitza Stark Publications for gene: WNT10B were set to
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
Fetal anomalies v0.1552 WRAP53 Zornitza Stark Phenotypes for gene: WRAP53 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 to Dyskeratosis congenita, autosomal recessive 3, OMIM #613988
Fetal anomalies v0.1551 WRAP53 Zornitza Stark Publications for gene: WRAP53 were set to
Fetal anomalies v0.1550 YY1 Zornitza Stark Publications for gene: YY1 were set to
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark edited their review of gene: YY1: Changed publications: 28575647
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark Marked gene: YY1 as ready
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark Gene: yy1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4384 YY1 Zornitza Stark Phenotypes for gene: YY1 were changed from to Gabriele-de Vries syndrome, OMIM #617557
Intellectual disability syndromic and non-syndromic v0.4383 YY1 Zornitza Stark Publications for gene: YY1 were set to
Intellectual disability syndromic and non-syndromic v0.4382 YY1 Zornitza Stark Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4381 YY1 Zornitza Stark reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10321 YY1 Zornitza Stark Marked gene: YY1 as ready
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
Fetal anomalies v0.1549 GM2A Zornitza Stark Marked gene: GM2A as ready
Fetal anomalies v0.1549 GM2A Zornitza Stark Gene: gm2a has been classified as Amber List (Moderate Evidence).
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
Fetal anomalies v0.1549 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from GM2-GANGLIOSIDOSIS TYPE AB to GM2-gangliosidosis, AB variant MIM#272750
Fetal anomalies v0.1548 GM2A Zornitza Stark Publications for gene: GM2A were set to
Fetal anomalies v0.1547 GM2A Zornitza Stark reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10318 GM2A Zornitza Stark Marked gene: GM2A as ready
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
Fetal anomalies v0.1547 VPS53 Alison Yeung Marked gene: VPS53 as ready
Fetal anomalies v0.1547 VPS53 Alison Yeung Gene: vps53 has been classified as Green List (High Evidence).
Mendeliome v0.10315 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
Fetal anomalies v0.1547 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 v0.10314 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
Fetal anomalies v0.1547 GANAB Zornitza Stark Marked gene: GANAB as ready
Fetal anomalies v0.1547 GANAB Zornitza Stark Gene: ganab has been classified as Red List (Low Evidence).
Congenital Heart Defect v0.165 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
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.97 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.96 GFRA1 Zornitza Stark Classified gene: GFRA1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.96 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.95 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Added comment: PMID: 34737117;
4 neonates from a consanguineous family who presented with lethal renal disease. Homozygous for (NM_005264.8:c.628G > T:p.[Gly210Ter]); Changed rating: GREEN; Changed publications: 33020172, 34737117
Mendeliome v0.10313 VPS53 Alison Yeung Marked gene: VPS53 as ready
Mendeliome v0.10313 VPS53 Alison Yeung Gene: vps53 has been classified as Green List (High Evidence).
Fetal anomalies v0.1547 GFRA1 Zornitza Stark Marked gene: GFRA1 as ready
Fetal anomalies v0.1547 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1547 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
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
Fetal anomalies v0.1546 GFRA1 Zornitza Stark Classified gene: GFRA1 as Green List (high evidence)
Fetal anomalies v0.1546 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1545 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Fetal anomalies v0.1545 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1545 GATA3 Zornitza Stark Publications for gene: GATA3 were set to
Fetal anomalies v0.1544 GATA3 Zornitza Stark Mode of inheritance for gene: GATA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1543 GATA3 Zornitza Stark Classified gene: GATA3 as Green List (high evidence)
Fetal anomalies v0.1543 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1542 NKX2-6 Krithika Murali edited their review of gene: NKX2-6: Added comment: Review updated - 3 unrelated families now reported

PMID 15649947 (Heathcote et al 2005) - first reported biallelic variants NKX2-6 associated with type 1 truncus arteriosis in a large consanguineous family previously described by (Abushaban et al 2003 - 12574981)

PMID 24421281 (Ta-Shma et al 2014) Subsequently reported, another consanguineous family with conotruncal defects (including VSD and TA) and homozygous nonsense NKX2-6 variants. One individual from that family was
also noted to have athymia

PMID 32198970 (Ritter et al 2019) - Reported compound het variants in x2 siblings with truncus arteriosus (2nd sibling diagnosed antenatally) from non-consanguineous family

Additional studies of NKX2-6 identified a
- heterozygous missense variant c.472A > C (p.Lys158Gln) that segregated with VSD (PMID 25380965 Wang et al 2015)
- heterozygous missense variant c.525G > C (p.Gln175His) that segregated in a family with atrial fibrillation (PMID 25319568 Wang et al 2014)

Included in PanelApp as biallelic inheritance but possibility of less severe phenotype with monoallelic inheritance possible - but one reported family only.; Changed publications: 24421281, 15649947, 32198970, 25380965, 25319568
Fetal anomalies v0.1542 GLI1 Zornitza Stark Marked gene: GLI1 as ready
Fetal anomalies v0.1542 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1542 GLI1 Zornitza Stark Publications for gene: GLI1 were set to
Fetal anomalies v0.1541 GLI1 Zornitza Stark Mode of inheritance for gene: GLI1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1540 GLI1 Zornitza Stark Classified gene: GLI1 as Green List (high evidence)
Fetal anomalies v0.1540 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Polydactyly v0.244 GLI1 Zornitza Stark Marked gene: GLI1 as ready
Polydactyly v0.244 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Polydactyly v0.244 GLI1 Zornitza Stark Classified gene: GLI1 as Green List (high evidence)
Polydactyly v0.244 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GLI1 Zornitza Stark Marked gene: GLI1 as ready
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).
Fetal anomalies v0.1539 WNT10B Alison Yeung Marked gene: WNT10B as ready
Fetal anomalies v0.1539 WNT10B Alison Yeung Gene: wnt10b has been classified as Green List (High Evidence).
Fetal anomalies v0.1539 WNT10B Alison Yeung Classified gene: WNT10B as Green List (high evidence)
Fetal anomalies v0.1539 WNT10B Alison Yeung Gene: wnt10b has been classified as Green List (High Evidence).
Fetal anomalies v0.1538 WNT10B Alison Yeung reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 24211389, 27321946; Phenotypes: Split-hand/foot malformation 6, OMIM #601906; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Fetal anomalies v0.1538 GABRB2 Zornitza Stark Marked gene: GABRB2 as ready
Fetal anomalies v0.1538 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1538 GANAB Zornitza Stark Mode of inheritance for gene: GANAB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1537 GANAB Zornitza Stark Classified gene: GANAB as Red List (low evidence)
Fetal anomalies v0.1537 GANAB Zornitza Stark Gene: ganab has been classified as Red List (Low Evidence).
Fetal anomalies v0.1536 GANAB Zornitza Stark reviewed gene: GANAB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic kidney disease 3, MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1536 GABRB2 Zornitza Stark Phenotypes for gene: GABRB2 were changed from Epilepsy and intellectual disability to Developmental and epileptic encephalopathy 92 MIM#617829
Fetal anomalies v0.1535 GABRB2 Zornitza Stark Publications for gene: GABRB2 were set to
Fetal anomalies v0.1534 GABRB2 Zornitza Stark Mode of pathogenicity for gene: GABRB2 was changed from to Other
Fetal anomalies v0.1533 GABRB2 Zornitza Stark Mode of inheritance for gene: GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1532 GABRB2 Zornitza Stark Classified gene: GABRB2 as Green List (high evidence)
Fetal anomalies v0.1532 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Marked gene: ZNF699 as ready
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Gene: znf699 has been classified as Green List (High Evidence).
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Classified gene: ZNF699 as Green List (high evidence)
Fetal anomalies v0.1531 ZNF699 Zornitza Stark Gene: znf699 has been classified as Green List (High Evidence).
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Marked gene: ZMYM2 as ready
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Classified gene: ZMYM2 as Green List (high evidence)
Fetal anomalies v0.1530 ZMYM2 Zornitza Stark Gene: zmym2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1529 UBR7 Zornitza Stark Marked gene: UBR7 as ready
Fetal anomalies v0.1529 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Fetal anomalies v0.1529 UBR7 Zornitza Stark Classified gene: UBR7 as Green List (high evidence)
Fetal anomalies v0.1529 UBR7 Zornitza Stark Gene: ubr7 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.165 TLL1 Zornitza Stark Phenotypes for gene: TLL1 were changed from to Atrial septal defect 6 MIM#613087
Fetal anomalies v0.1528 TLL1 Zornitza Stark Marked gene: TLL1 as ready
Fetal anomalies v0.1528 TLL1 Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1528 TLL1 Zornitza Stark Classified gene: TLL1 as Green List (high evidence)
Fetal anomalies v0.1528 TLL1 Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1527 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Fetal anomalies v0.1527 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1527 TBX2 Zornitza Stark Classified gene: TBX2 as Amber List (moderate evidence)
Fetal anomalies v0.1527 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1526 TBX2 Zornitza Stark reviewed gene: TBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1526 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Fetal anomalies v0.1526 FAM58A Zornitza Stark Gene: fam58a has been classified as Green List (High Evidence).
Fetal anomalies v0.1526 FAM58A Zornitza Stark Phenotypes for gene: FAM58A were changed from STAR SYNDROME to STAR syndrome MIM#300707
Fetal anomalies v0.1525 FAM58A Zornitza Stark Publications for gene: FAM58A were set to
Fetal anomalies v0.1524 WRAP53 Alison Yeung Marked gene: WRAP53 as ready
Fetal anomalies v0.1524 WRAP53 Alison Yeung Gene: wrap53 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1524 WRAP53 Alison Yeung Classified gene: WRAP53 as Red List (low evidence)
Fetal anomalies v0.1524 WRAP53 Alison Yeung Added comment: Comment on list classification: Not suitable for fetal anomalies list
Fetal anomalies v0.1524 WRAP53 Alison Yeung Gene: wrap53 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1523 STK4 Zornitza Stark Marked gene: STK4 as ready
Fetal anomalies v0.1523 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1523 STK4 Zornitza Stark Classified gene: STK4 as Green List (high evidence)
Fetal anomalies v0.1523 STK4 Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence).
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Fetal anomalies v0.1522 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1521 SPEN Zornitza Stark Marked gene: SPEN as ready
Fetal anomalies v0.1521 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Fetal anomalies v0.1521 SPEN Zornitza Stark Classified gene: SPEN as Green List (high evidence)
Fetal anomalies v0.1521 SPEN Zornitza Stark Gene: spen has been classified as Green List (High Evidence).
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Marked gene: SMAD6 as ready
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Classified gene: SMAD6 as Green List (high evidence)
Fetal anomalies v0.1520 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1519 FAM20C Zornitza Stark Marked gene: FAM20C as ready
Fetal anomalies v0.1519 FAM20C Zornitza Stark Gene: fam20c has been classified as Green List (High Evidence).
Fetal anomalies v0.1519 FAM20C Zornitza Stark Phenotypes for gene: FAM20C were changed from RAINE SYNDROME to Raine syndrome MIM#259775
Fetal anomalies v0.1518 FAM20C Zornitza Stark Publications for gene: FAM20C were set to
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Marked gene: ROBO4 as ready
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Gene: robo4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Classified gene: ROBO4 as Amber List (moderate evidence)
Fetal anomalies v0.1517 ROBO4 Zornitza Stark Gene: robo4 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1516 ROBO4 Zornitza Stark reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1516 PRKACB Zornitza Stark Marked gene: PRKACB as ready
Fetal anomalies v0.1516 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Fetal anomalies v0.1516 PRKACB Zornitza Stark Classified gene: PRKACB as Green List (high evidence)
Fetal anomalies v0.1516 PRKACB Zornitza Stark Gene: prkacb has been classified as Green List (High Evidence).
Fetal anomalies v0.1515 PRKACA Zornitza Stark Marked gene: PRKACA as ready
Fetal anomalies v0.1515 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Fetal anomalies v0.1515 WRAP53 Alison Yeung reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM #613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1515 PRKACA Zornitza Stark Classified gene: PRKACA as Green List (high evidence)
Fetal anomalies v0.1515 PRKACA Zornitza Stark Gene: prkaca has been classified as Green List (High Evidence).
Fetal anomalies v0.1514 FAM20A Zornitza Stark Marked gene: FAM20A as ready
Fetal anomalies v0.1514 FAM20A Zornitza Stark Gene: fam20a has been classified as Red List (Low Evidence).
Fetal anomalies v0.1514 FAM20A Zornitza Stark Phenotypes for gene: FAM20A were changed from AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME to Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690
Fetal anomalies v0.1513 FAM20A Zornitza Stark Publications for gene: FAM20A were set to
Fetal anomalies v0.1512 FAM20A Zornitza Stark Classified gene: FAM20A as Red List (low evidence)
Fetal anomalies v0.1512 FAM20A Zornitza Stark Gene: fam20a has been classified as Red List (Low Evidence).
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
Fetal anomalies v0.1511 LINS1 Zornitza Stark Marked gene: LINS1 as ready
Fetal anomalies v0.1511 LINS1 Zornitza Stark Gene: lins1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1511 LINS1 Zornitza Stark Phenotypes for gene: LINS1 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 27 (MIM#614340); autosomal recessive intellectual disability (MIM#614340)
Fetal anomalies v0.1510 LINS1 Zornitza Stark Publications for gene: LINS1 were set to
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Marked gene: PRDM6 as ready
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Gene: prdm6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Classified gene: PRDM6 as Red List (low evidence)
Fetal anomalies v0.1509 PRDM6 Zornitza Stark Gene: prdm6 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1508 PRDM6 Zornitza Stark reviewed gene: PRDM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Patent ductus arteriosus 3 - MIM#617039; Mode of inheritance: None
Fetal anomalies v0.1508 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Fetal anomalies v0.1508 FAM126A Zornitza Stark Gene: fam126a has been classified as Green List (High Evidence).
Fetal anomalies v0.1508 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from LEUKODYSTROPHY HYPOMYELINATING TYPE 5 to Leukodystrophy, hypomyelinating, 5 MIM#610532
Fetal anomalies v0.1507 FAM126A Zornitza Stark Publications for gene: FAM126A were set to
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Marked gene: NKX2-6 as ready
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1506 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Fetal anomalies v0.1505 NKX2-6 Zornitza Stark Classified gene: NKX2-6 as Amber List (moderate evidence)
Fetal anomalies v0.1505 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1504 NKX2-6 Zornitza Stark reviewed gene: NKX2-6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1504 KRT74 Zornitza Stark Marked gene: KRT74 as ready
Fetal anomalies v0.1504 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1504 KRT74 Zornitza Stark Phenotypes for gene: KRT74 were changed from HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 to Woolly hair, autosomal dominant (MIM#194300)
Fetal anomalies v0.1503 KRT74 Zornitza Stark Publications for gene: KRT74 were set to
Fetal anomalies v0.1502 KRT74 Zornitza Stark Mode of inheritance for gene: KRT74 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1501 KRT74 Zornitza Stark Classified gene: KRT74 as Red List (low evidence)
Fetal anomalies v0.1501 KRT74 Zornitza Stark Gene: krt74 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1500 FAH Zornitza Stark Marked gene: FAH as ready
Fetal anomalies v0.1500 FAH Zornitza Stark Gene: fah has been classified as Red List (Low Evidence).
Fetal anomalies v0.1500 YY1 Alison Yeung Marked gene: YY1 as ready
Fetal anomalies v0.1500 YY1 Alison Yeung Gene: yy1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1500 FAH Zornitza Stark Phenotypes for gene: FAH were changed from TYROSINEMIA TYPE 1 to Tyrosinemia, type I, MIM#276700
Fetal anomalies v0.1499 FAH Zornitza Stark Publications for gene: FAH were set to
Fetal anomalies v0.1499 YY1 Alison Yeung Phenotypes for gene: YY1 were changed from INTELLECTUAL DISABILITY to Gabriele-de Vries syndrome, OMIM #617557
Fetal anomalies v0.1498 FAH Zornitza Stark Classified gene: FAH as Red List (low evidence)
Fetal anomalies v0.1498 FAH Zornitza Stark Gene: fah has been classified as Red List (Low Evidence).
Fetal anomalies v0.1497 YY1 Alison Yeung Mode of inheritance for gene: YY1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1496 FAH Zornitza Stark reviewed gene: FAH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1496 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
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Green List (high evidence)
Fetal anomalies v0.1496 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Green List (High Evidence).
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Marked gene: KCNJ8 as ready
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1495 KCNJ8 Zornitza Stark Mode of inheritance for gene: KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Fetal anomalies v0.1494 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Green List (high evidence)
Fetal anomalies v0.1494 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1493 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Fetal anomalies v0.1493 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1493 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Fetal anomalies v0.1493 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1492 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1492 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1491 MESP1 Zornitza Stark Marked gene: MESP1 as ready
Fetal anomalies v0.1491 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1491 MESP1 Zornitza Stark Classified gene: MESP1 as Amber List (moderate evidence)
Fetal anomalies v0.1491 MESP1 Zornitza Stark Gene: mesp1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Classified gene: HSPA9 as Green List (high evidence)
Fetal anomalies v0.1490 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Fetal anomalies v0.1489 GM2A Ain Roesley reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28417072, 28192816, 27402091; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1489 FOXH1 Zornitza Stark reviewed gene: FOXH1: Rating: RED; Mode of pathogenicity: None; Publications: 32003456; Phenotypes: Congenital heart disease; Mode of inheritance: None
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
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Marked gene: FBRSL1 as ready
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Classified gene: FBRSL1 as Green List (high evidence)
Fetal anomalies v0.1489 FBRSL1 Zornitza Stark Gene: fbrsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Fetal anomalies v0.1488 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Fetal anomalies v0.1488 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1488 CITED2 Zornitza Stark Publications for gene: CITED2 were set to 11694877; 16287139
Fetal anomalies v0.1487 CITED2 Zornitza Stark Classified gene: CITED2 as Green List (high evidence)
Fetal anomalies v0.1487 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1486 CITED2 Zornitza Stark 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: None
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Classified gene: BMPR2 as Red List (low evidence)
Fetal anomalies v0.1486 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1485 BMPR2 Zornitza Stark reviewed gene: BMPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.1485 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Fetal anomalies v0.1485 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1485 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from Osteopetrosis 259720 to Osteopetrosis, autosomal recessive 5 (MIM#259720)
Fetal anomalies v0.1484 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Fetal anomalies v0.1483 OCLN Zornitza Stark Marked gene: OCLN as ready
Fetal anomalies v0.1483 OCLN Zornitza Stark Gene: ocln has been classified as Green List (High Evidence).
Fetal anomalies v0.1483 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 to Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486)
Fetal anomalies v0.1482 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Fetal anomalies v0.1481 OBSL1 Zornitza Stark Marked gene: OBSL1 as ready
Fetal anomalies v0.1481 OBSL1 Zornitza Stark Gene: obsl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1481 OCLN Zornitza Stark Phenotypes for gene: OCLN were changed from Band-like calcification with simplified gyration and polymicrogyria 251290 to Pseudo-TORCH syndrome 1 (MIM#251290)
Fetal anomalies v0.1480 OCLN Zornitza Stark Publications for gene: OCLN were set to
Fetal anomalies v0.1479 OBSL1 Zornitza Stark Phenotypes for gene: OBSL1 were changed from 3-M SYNDROME 2 to 3-M syndrome 2 (MIM#612921)
Polydactyly v0.243 GLI1 Ain Roesley gene: GLI1 was added
gene: GLI1 was added to Polydactyly. 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
Fetal anomalies v0.1478 OBSL1 Zornitza Stark Publications for gene: OBSL1 were set to
Fetal anomalies v0.1477 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Fetal anomalies v0.1477 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1477 GLI1 Ain Roesley reviewed gene: GLI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34721536, 31621941, 31549748, 30620395; Phenotypes: Polydactyly, postaxial, type A8 MIM#618123, Polydactyly, preaxial I MIM#174400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1477 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Fetal anomalies v0.1477 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
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
Fetal anomalies v0.1477 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242)
Fetal anomalies v0.1476 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Fetal anomalies v0.1475 NR5A1 Zornitza Stark Marked gene: NR5A1 as ready
Fetal anomalies v0.1475 NR5A1 Zornitza Stark Gene: nr5a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1475 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from 46XY sex reversal 2, dosage-sensitive 300018; Adrenal hypoplasia, congenital 300200 to 46XY sex reversal 2, dosage-sensitive MIM#300018
Fetal anomalies v0.1474 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Fetal anomalies v0.1473 NR5A1 Zornitza Stark Phenotypes for gene: NR5A1 were changed from SPERMATOGENIC FAILURE 8; 46XY SEX REVERSAL 3 to 46, XX sex reversal 4 (MIM#617480); 46XY sex reversal 3 (MIM#612965)
Fetal anomalies v0.1472 NR5A1 Zornitza Stark Publications for gene: NR5A1 were set to
Fetal anomalies v0.1471 NR5A1 Zornitza Stark Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1470 NR0B1 Zornitza Stark Classified gene: NR0B1 as Amber List (moderate evidence)
Fetal anomalies v0.1470 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1469 NR0B1 Zornitza Stark Tag SV/CNV tag was added to gene: NR0B1.
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
Fetal anomalies v0.1469 GFRA1 Ain Roesley reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117, 33020172; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 GATA3 Ain Roesley reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29663634; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GANAB Ain Roesley reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: None; Publications: 27259053, 33097077; Phenotypes: Polycystic kidney disease 3 MIM#600666; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 GABRB2 Ain Roesley reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29100083, 27789573, 33325057; Phenotypes: Developmental and epileptic encephalopathy 92 MIM#617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.1469 ZNF699 Krithika Murali gene: ZNF699 was added
gene: ZNF699 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome - #619488
Review for gene: ZNF699 was set to GREEN
Added comment: DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding from infancy.

Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems.

Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections.
Sources: Literature, Expert list
Fetal anomalies v0.1469 ZMYM2 Krithika Murali gene: ZMYM2 was added
gene: ZMYM2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYM2 were set to 32891193
Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities - MIM#619522
Review for gene: ZMYM2 was set to GREEN
Added comment: Approximately half of patients have congenital anomalies of the kidney and urinary tract (CAKUT) and/or congenital cardiac defects, including septal defects
Sources: Expert list, Literature
Fetal anomalies v0.1469 UBR7 Krithika Murali gene: UBR7 was added
gene: UBR7 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome - MIM#619189
Review for gene: UBR7 was set to GREEN
Added comment: Biallalic variants associated with Li-Campeau syndrome - identified in 7 affected individuals from 6 unrelated families. Phenotypic features include cardiac defects (5/7 - VSD, ASD, PDA, PFO)

Other phenotypic features include: short stature (ht <3rd centile), developmental delay, urogenital anomalies (cryptorchidism, small penis); seizures; hypotonia; hypothyroidism; ptosis; dysmorphic features
Sources: Literature, Expert list
Fetal anomalies v0.1469 TLL1 Krithika Murali gene: TLL1 was added
gene: TLL1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TLL1 were set to 18830233; 30538173; 27418595; 31570783
Phenotypes for gene: TLL1 were set to Atrial septal defect 6 - MIM#613087; congenital heart disease
Review for gene: TLL1 was set to GREEN
Added comment: Biallelic variants embryonically lethal in mouse model from cardiac failure with associated cardiac defects. Heterozygous missense variants detected in patients from an ASD cohort with supportive follow-up functional studies
Sources: Expert list, Literature
Fetal anomalies v0.1469 TBX2 Krithika Murali gene: TBX2 was added
gene: TBX2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX2 were set to 29726930
Phenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Congenital heart disease; skeletal abnormalities; thymus aplasia
Review for gene: TBX2 was set to GREEN
Added comment: 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).
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM58A Belinda Chong reviewed gene: FAM58A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297069, 8818947, 28225384; Phenotypes: STAR syndrome MIM#300707; 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
Fetal anomalies v0.1469 STK4 Krithika Murali gene: STK4 was added
gene: STK4 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations - MIM#614868
Review for gene: STK4 was set to GREEN
Added comment: Biallelic variants identified in 12 affected individuals from 5 unrelated families with two mouse model studies. Immunodeficiencyphenotype but cardiac malformations that are potentially detectable antenatally also a typical feature.
Sources: Literature, Expert list
Fetal anomalies v0.1469 SPRED2 Krithika Murali gene: SPRED2 was added
gene: SPRED2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to cardiac defects; skeletal anomalies
Review for gene: SPRED2 was set to GREEN
Added comment: Homozygous variants identified in four subjects from three families with a clinical phenotype that included developmental delay, ID, cardiac defects, short stature, skeletal anomalies and dysmorphic features. Cardiac defects and skeletal anomalies potentially ascertainable antenatally.
Sources: Expert list, Literature
Fetal anomalies v0.1469 SPEN Krithika Murali gene: SPEN was added
gene: SPEN was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome - MIM#619312
Review for gene: SPEN was set to GREEN
Added comment: Radio et al. (2021) reported heterozygous SPEN variants in 34 individuals from 33 unrelated families with had global developmental delay, ID, behavioural issues and dysmorphic features. Other features included hypotonia, gait imbalance, pyramidal signs and seizures.

Findings potentially ascertainable antenatally:
- Brain imaging abnormalities include polymicrogyria, heterotopia, cerebellar atrophy, periventricular white matter defects, agenesis of the corpus callosum, and tethered cord.
- Congenital heart defects also present in a significant proportion.
Sources: Expert list, Literature
Fetal anomalies v0.1469 SMAD6 Krithika Murali gene: SMAD6 was added
gene: SMAD6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 22275001; 31138930; 27606499; 32499606
Phenotypes for gene: SMAD6 were set to Aortic valve disease 2 - MIM#614823; {Craniosynostosis 7, susceptibility to} - MIM#617439; {Radioulnar synostosis, nonsyndromic} - #179300
Review for gene: SMAD6 was set to GREEN
Added comment: Heterozygous SMAD6 variants have been reported with:
congenital cardiovascular malformations including valvular disease
radioulnar synostosis
craniosynostosis (penetrance is 57%. A common polymorphism near BMP2 (rs1884302) was initially proposed to influence penetrance, but follow-up study did not corroborate this. In vitro luciferase assays suggest loss of SMAD6 inhibitory function)
Sources: Literature, Expert list
Fetal anomalies v0.1469 FAM20C Belinda Chong reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19250384, 20825432, 17924334; Phenotypes: Raine syndrome MIM#259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 ROBO4 Krithika Murali gene: ROBO4 was added
gene: ROBO4 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to Aortic valve disease 3- MIM#618496
Review for gene: ROBO4 was set to GREEN
Added comment: Heterozygous variants identified in individuals from 2 unrelated families with bicuspid aortic valve and aortic dilatation. Supportive functional data. Incomplete penetrance also a feature.
Sources: Literature, Expert list
Fetal anomalies v0.1469 PRKACB Krithika Murali gene: PRKACB was added
gene: PRKACB was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2 - MIM#619143
Review for gene: PRKACB was set to GREEN
Added comment: Heterozygous variants reported in 4 unrelated probands with Cardioacrofacial dysplasia-2 (CAFD2) - characterized by congenital cardiac defects (atrium or atrioventricular septal defect mainly); limb anomalies (including short limbs, brachydactyly, and postaxial polydactyly); and dysmorphic facial features. Developmental delay of variable severity has also been observed
Sources: Literature, Expert list
Fetal anomalies v0.1469 PRKACA Krithika Murali gene: PRKACA was added
gene: PRKACA was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759
Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1-MIM#619142
Review for gene: PRKACA was set to GREEN
Added comment: Heterozygous variants were identified in affected individuals from 3 unrelated families and associated with cardioacrofacial dysplasia-1 (CAFD1). Phenotype includes congenital cardiac defects (mainly atrium or atrioventricular septal defect), limb anomalies (short limbs, brachydactyly, postaxial polydactyly) and dysmorphic facial features. Fetal phenotype also reported.
Sources: Expert list, Literature
Fetal anomalies v0.1469 FAM20A Belinda Chong reviewed gene: FAM20A: Rating: RED; Mode of pathogenicity: None; Publications: 23468644, 18597613, 21549343, 21990045; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 LINS1 Daniel Flanagan reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23773660, 21937992, 32499722, 28181389; Phenotypes: Mental retardation, autosomal recessive 27 (MIM#614340), autosomal recessive intellectual disability (MIM#614340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1469 PRDM6 Krithika Murali gene: PRDM6 was added
gene: PRDM6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM6 were set to 27181681
Phenotypes for gene: PRDM6 were set to Patent ductus arteriosus 3 - MIM#617039
Review for gene: PRDM6 was set to GREEN
Added comment: In 3 unrelated families segregating autosomal dominant nonsyndromic patent ductus arteriosus - usually diagnosed in the neonate
Sources: Literature, Expert list
Fetal anomalies v0.1469 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
Fetal anomalies v0.1469 NKX2-6 Krithika Murali Deleted their comment
Fetal anomalies v0.1469 NKX2-6 Krithika Murali edited their review of gene: NKX2-6: Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations, persistent truncus arteriosus and athymia; Changed phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095
Fetal anomalies v0.1469 NKX2-6 Krithika Murali gene: NKX2-6 was added
gene: NKX2-6 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-6 were set to 24421281; 15649947
Review for gene: NKX2-6 was set to GREEN
Added comment: Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations and athymia
Sources: Literature, Expert list
Fetal anomalies v0.1469 KRT74 Daniel Flanagan reviewed gene: KRT74: Rating: RED; Mode of pathogenicity: None; Publications: 21188418; Phenotypes: Woolly hair, autosomal dominant (MIM#194300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1469 FAH Belinda Chong reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15759101; Phenotypes: Tyrosinemia, type I, MIM#276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.1469 MYBPC3 Krithika Murali gene: MYBPC3 was added
gene: MYBPC3 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MYBPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC3 were set to 16679492; 17937428; 19858127
Phenotypes for gene: MYBPC3 were set to Neonatal hypertrophic cardiomyopathy; Cardiomyopathy, hypertrophic, 4 - MIM#115197
Review for gene: MYBPC3 was set to GREEN
Added comment: 16679492 - two unrelated neonates with severe hypertrophic cardiomyopathy caused by compound heterozygous truncating mutations in the MYBPC3 gene (no antenatal findings reported)

17937428 - 20 Old Order Amish children with severe neonatal hypertrophic cardiomyopathy caused by a novel homozygous splice site mutation in the MYBPC3 gene, diagnosed in the first 3 weeks of life, surviving individuals required cardiac transplant before age 1

19858127 - infant with fatal cardiomyopathy and skeletal myopathy due to a homozygous mutation, p.R943X
Sources: Literature, Expert list
Fetal anomalies v0.1469 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, maternally imprinted (paternal allele expressed)
Fetal anomalies v0.1469 MMP15 Krithika Murali gene: MMP15 was added
gene: MMP15 was added to Fetal anomalies. Sources: Literature,Expert list
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 Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Gene reviewed Dec 2021 - 3 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, Expert list
Fetal anomalies v0.1469 MIB1 Krithika Murali gene: MIB1 was added
gene: MIB1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIB1 were set to 33057194
Phenotypes for gene: MIB1 were set to Congenital heart disease
Review for gene: MIB1 was set to AMBER
Added comment: Last reviewed March and Dec 2021 - no additional evidence

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.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert list, Literature
Fetal anomalies v0.1469 MESP1 Krithika Murali gene: MESP1 was added
gene: MESP1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: MESP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MESP1 were set to 28677747; 28050627; 27185833; 26694203
Phenotypes for gene: MESP1 were set to Congenital heart disease
Review for gene: MESP1 was set to AMBER
Added comment: Gene last reviewed April 2021 - Rare/novel variants reported in at least 7 unrelated individuals with congenital heart disease, in-silicos conflicting, familial segregation only available for some (one de novo, three inherited, others unresolved). Functional data implicates gene in cardiac development.

No additional published evidence.
Sources: Literature, Expert list
Fetal anomalies v0.1469 HSPA9 Krithika Murali gene: HSPA9 was added
gene: HSPA9 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HSPA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 32869452; 26491070
Phenotypes for gene: HSPA9 were set to Even-plus syndrome - MIM#616854; Anemia, sideroblastic, 4- #182170
Review for gene: HSPA9 was set to GREEN
Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.
2/5 with developmental delay and abnormalities of the corpus callosum
4/5 with congenital heart disease

Biallelic variants also associated with congenital sideroblastic anaemia. Some patients with a a heterozygous LoF variant have developed congenital sideroblastic anaemia if a particular SNP is presence in trans correlating with reduced mRNA expression (pseudodominant pattern of inheritance)
Sources: Literature, Expert list
Fetal anomalies v0.1469 HAND2 Krithika Murali gene: HAND2 was added
gene: HAND2 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HAND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAND2 were set to 26865696; 32134193; 26676105
Phenotypes for gene: HAND2 were set to Congenital heart defects
Review for gene: HAND2 was set to GREEN
Added comment: Heterozygous LoF variants associated with congenital heart defects reported in at least 3 unrelated families.
Sources: Literature, Expert list
Fetal anomalies v0.1469 HAND1 Krithika Murali gene: HAND1 was added
gene: HAND1 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: HAND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HAND1 were set to 19586923; 28112363; 18276607; 27942761; 31286141
Phenotypes for gene: HAND1 were set to Congenital heart defects
Review for gene: HAND1 was set to GREEN
Added comment: Testing of hypoplastic human hearts (18276607) and those with septatation defects (19586923) demonstrated impairment in HAND1 function

Germline LoF variants associated with congenital heart defects
Sources: Literature, Expert list
Fetal anomalies v0.1469 GATA5 Krithika Murali gene: GATA5 was added
gene: GATA5 was added to Fetal anomalies. Sources: Literature,Expert list
Mode of inheritance for gene: GATA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GATA5 were set to 27066509; 23289003; 22961344; 23031282
Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5 - #617912
Review for gene: GATA5 was set to GREEN
Added comment: Heterozygous variants asociated with multiple types of congenital heart defects (septal defects, ToF). Autosomal recessive inheritance also reported in a patient with double outflow right ventricle in a consanguineous Lebanese family
Sources: Literature, Expert list
Fetal anomalies v0.1469 FOXH1 Krithika Murali gene: FOXH1 was added
gene: FOXH1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXH1 were set to 19933292; 18538293; 19525021
Phenotypes for gene: FOXH1 were set to Congenital heart disease; holoprosencephaly
Review for gene: FOXH1 was set to GREEN
Added comment: Associated with congenital heart defects (including septal defects, tetralogy of fallot and transposition of the great arteries) as well as holoprosencephaly with supportive functional studies.
Sources: Expert list, Literature
Fetal anomalies v0.1469 FBRSL1 Krithika Murali gene: FBRSL1 was added
gene: FBRSL1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618; 34805182
Phenotypes for gene: FBRSL1 were set to Congenital malformations; congenital heart defect
Review for gene: FBRSL1 was set to GREEN
Added comment: Associated with novel malformation and intellectual disability syndrome. Three unrelated children with de novo PTCs that escape NMD, with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations - 2/3 had heart defects (ASD, VSD), cleft palate and hearing impairement. Supported by Xenopus oocyte functional studies
Sources: Literature
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Marked gene: AKR1D1 as ready
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Gene: akr1d1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1469 AKR1D1 Zornitza Stark Phenotypes for gene: AKR1D1 were changed from BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 to Bile acid synthesis defect, congenital, 2, MIM# 235555
Fetal anomalies v0.1468 AKR1D1 Zornitza Stark Publications for gene: AKR1D1 were set to
Fetal anomalies v0.1467 AKR1D1 Zornitza Stark reviewed gene: AKR1D1: Rating: RED; Mode of pathogenicity: None; Publications: 12970144, 20522910; Phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1467 AK2 Zornitza Stark Marked gene: AK2 as ready
Fetal anomalies v0.1467 AK2 Zornitza Stark Gene: ak2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1467 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from RETICULAR DYSGENESIS to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Fetal anomalies v0.1466 AK2 Zornitza Stark Publications for gene: AK2 were set to
Fetal anomalies v0.1465 AK2 Zornitza Stark reviewed gene: AK2: Rating: RED; Mode of pathogenicity: None; Publications: 19043416, 19043417; Phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1465 AIRE Zornitza Stark Marked gene: AIRE as ready
Fetal anomalies v0.1465 AIRE Zornitza Stark Gene: aire has been classified as Red List (Low Evidence).
Fetal anomalies v0.1465 AIRE Zornitza Stark Phenotypes for gene: AIRE were changed from AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Fetal anomalies v0.1464 AIRE Zornitza Stark reviewed gene: AIRE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1464 CITED2 Krithika Murali gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 11694877; 16287139
Phenotypes for gene: CITED2 were set to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431; Congenital heart disease
Review for gene: CITED2 was set to GREEN
Added comment: Variants associated with congenital heart defects. Supportive functional evidence and animal models
Sources: Literature
Fetal anomalies v0.1464 BMPR2 Krithika Murali gene: BMPR2 was added
gene: BMPR2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 31382961
Phenotypes for gene: BMPR2 were set to Persistent pulmonary hypertension of the neonate; Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600; Pulmonary venoocclusive disease 1-#265450
Penetrance for gene: BMPR2 were set to Incomplete
Review for gene: BMPR2 was set to AMBER
Added comment: BMPR2 gene variants known to be associated with sporadic/familial pulmonary hypertension and pulmonary venoocclusive disease. Fetal phenotype not reported but known to be associated with persistent pulmonary hypertension of the neonate - critical condition diagnosed in the early postnatal period.
Sources: Literature
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
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Marked gene: AIPL1 as ready
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Gene: aipl1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1464 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from LEBER CONGENITAL AMAUROSIS 4 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Fetal anomalies v0.1463 AIPL1 Zornitza Stark Publications for gene: AIPL1 were set to
Fetal anomalies v0.1462 AIPL1 Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and 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
Fetal anomalies v0.1461 AIPL1 Zornitza Stark reviewed gene: AIPL1: Rating: RED; 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, autosomal or pseudoautosomal
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
Fetal anomalies v0.1461 AGXT Zornitza Stark Marked gene: AGXT as ready
Fetal anomalies v0.1461 AGXT Zornitza Stark Gene: agxt has been classified as Red List (Low Evidence).
Fetal anomalies v0.1461 AGXT Zornitza Stark Phenotypes for gene: AGXT were changed from HYPEROXALURIA, PRIMARY, TYPE 1 to Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823
Fetal anomalies v0.1460 AGXT Zornitza Stark Publications for gene: AGXT were set to
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Classified gene: GATA2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.110 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.109 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21670465; 21242295; 21892158
Phenotypes for gene: GATA2 were set to Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Review for gene: GATA2 was set to GREEN
Added comment: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome': gene included in this panel for this association (likely represents continuum rather than distinct disorder).

Over 20 unrelated individuals reported.
Sources: Expert Review
Fatty Acid Oxidation Defects v1.7 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Fatty Acid Oxidation Defects v1.6 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
Fetal anomalies v0.1459 AGXT Zornitza Stark reviewed gene: AGXT: Rating: RED; Mode of pathogenicity: None; Publications: 2039493, 19479957; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900 MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1459 AGRN Zornitza Stark Marked gene: AGRN as ready
Fetal anomalies v0.1459 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1459 AGRN Zornitza Stark Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence (FADS)
Fetal anomalies v0.1458 AGRN Zornitza Stark Classified gene: AGRN as Amber List (moderate evidence)
Fetal anomalies v0.1458 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1457 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from Lipodystrophy 608594 to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Fetal anomalies v0.1456 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 22902344
Fetal anomalies v0.1455 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: RED; Mode of pathogenicity: None; Publications: 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1455 AGA Zornitza Stark edited their review of gene: AGA: Changed publications: 1703489, 1904874, 8064811, 8946839
Fetal anomalies v0.1455 AGA Zornitza Stark Marked gene: AGA as ready
Fetal anomalies v0.1455 AGA Zornitza Stark Gene: aga has been classified as Red List (Low Evidence).
Fetal anomalies v0.1455 AGA Zornitza Stark Publications for gene: AGA were set to
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.
Fetal anomalies v0.1454 AGA Zornitza Stark Phenotypes for gene: AGA were changed from ASPARTYLGLUCOSAMINURIA to Aspartylglucosaminuria, MIM#208400
Fetal anomalies v0.1453 AGA Zornitza Stark changed review comment from: Intellectual disability is a prominent feature of this metabolic disorder.; to: Progressive metabolic disorder with features becoming more prominent over time.
Fetal anomalies v0.1453 AGA Zornitza Stark edited their review of gene: AGA: Changed rating: RED
Fetal anomalies v0.1453 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1453 AFF2 Zornitza Stark Marked gene: AFF2 as ready
Fetal anomalies v0.1453 AFF2 Zornitza Stark Gene: aff2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1453 AFF2 Zornitza Stark Phenotypes for gene: AFF2 were changed from FRAGILE X-E MENTAL RETARDATION SYNDROME to Mental retardation, X-linked, FRAXE type 309548
Fetal anomalies v0.1452 AFF2 Zornitza Stark Publications for gene: AFF2 were set to
Fetal anomalies v0.1451 AFF2 Zornitza Stark Tag SV/CNV tag was added to gene: AFF2.
Tag STR tag was added to gene: AFF2.
Fetal anomalies v0.1451 AFF2 Zornitza Stark changed review comment from: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.; to: This is classically a triplet expansion disorder. Note one report of an intragenic deletion which segregated with ID in a family, and two truncating variants classified as pathogenic by laboratories in ClinVar. Missense variants found to be over-represented in an autism cohort.

Congenital anomalies are not a prominent feature of this disorder.
Fetal anomalies v0.1451 AFF2 Zornitza Stark edited their review of gene: AFF2: Changed rating: RED
Fetal anomalies v0.1451 ADA Zornitza Stark Marked gene: ADA as ready
Fetal anomalies v0.1451 ADA Zornitza Stark Gene: ada has been classified as Red List (Low Evidence).
Fetal anomalies v0.1451 ADA Zornitza Stark Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064
Fetal anomalies v0.1450 ADA Zornitza Stark edited their review of gene: ADA: Changed phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
Fetal anomalies v0.1450 ADA Zornitza Stark reviewed gene: ADA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 OSTM1 Daniel Flanagan reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1450 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Fetal anomalies v0.1449 ACVRL1 Zornitza Stark Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376
Fetal anomalies v0.1448 ACVRL1 Zornitza Stark Mode of inheritance for gene: ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1447 ACVRL1 Zornitza Stark Classified gene: ACVRL1 as Green List (high evidence)
Fetal anomalies v0.1447 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.; to: There is debate about when AVMs form and whether they are congenital or not. However, neonatal presentations reported, and at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: GREEN; Changed publications: 32170914, 26126400, 21988128
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark changed review comment from: Typically presents post-natally.; to: There is debate about when AVMs form and whether they are congenital or not. However, at least one report identified of antenatal presentation with Vein of Galen malformation.
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark edited their review of gene: ACVRL1: Changed rating: AMBER; Changed publications: 32170914, 26126400
Fetal anomalies v0.1446 ACVRL1 Zornitza Stark reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fatty Acid Oxidation Defects v1.5 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 to Alpha-methylacetoacetic aciduria, MIM#203750; Deficiency of acetyl-CoA acetyltransferase; Beta-ketothiolase deficiency MONDO:0008760
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).
Fatty Acid Oxidation Defects v1.5 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria MIM#203750; Deficiency of acetyl-CoA acetyltransferase to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
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
Fetal anomalies v0.1446 ACAT1 Zornitza Stark changed review comment from: Primarily manifests as metabolic decompensation, DD/ID reported in a few individuals, mostly normal cognition.; to: Primarily manifests as metabolic decompensation post-natally.
Fetal anomalies v0.1446 ACAT1 Zornitza Stark edited their review of gene: ACAT1: Changed rating: RED
Fatty Acid Oxidation Defects v1.4 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 v0.10306 ACADS Zornitza Stark Marked gene: ACADS as ready
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
Fetal anomalies v0.1446 ACADS Zornitza Stark reviewed gene: ACADS: Rating: RED; 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 Marked gene: ACADM as ready
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
Fetal anomalies v0.1446 ACADM Zornitza Stark reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1446 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from ADRENOLEUKODYSTROPHY, X-LINKED to Adrenoleukodystrophy, MIM# 300100
Fetal anomalies v0.1445 ABCD1 Zornitza Stark reviewed gene: ABCD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, MIM# 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 OPHN1 Daniel Flanagan reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Billuart type (MIM#300486); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Marked gene: ABCC8 as ready
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Gene: abcc8 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1445 ABCC8 Zornitza Stark Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial 256450 to Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857
Fetal anomalies v0.1444 ABCC8 Zornitza Stark Mode of inheritance for gene: ABCC8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1443 ABCC8 Zornitza Stark reviewed gene: ABCC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 3, with or without neurologic features, MIM# 618857; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1443 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from ANEMIA, SIDEROBLASTIC, WITH ATAXIA to Anaemia, sideroblastic, with ataxia, MIM# 301310
Fetal anomalies v0.1442 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Marked gene: ABCB11 as ready
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Gene: abcb11 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1442 ABCB11 Zornitza Stark Phenotypes for gene: ABCB11 were changed from ABCB11-RELATED INTRAHEPATIC CHOLESTASIS to Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR
Fetal anomalies v0.1441 ABCB11 Zornitza Stark reviewed gene: ABCB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 AR Cholestasis, progressive familial intrahepatic 2, MIM# 601847 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1441 DCDC2 Zornitza Stark changed review comment from: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).; to: Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).

Most reports are of neonatal cholangitis.
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Marked gene: DCDC2 as ready
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1441 DCDC2 Zornitza Stark Phenotypes for gene: DCDC2 were changed from RENAL-HEPATIC CILIOPATHY to Nephronophthisis 19, MIM# 616217
Fetal anomalies v0.1440 DCDC2 Zornitza Stark Publications for gene: DCDC2 were set to
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Marked gene: CYP4F22 as ready
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1439 OCLN Daniel Flanagan reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1 (MIM#251290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1439 CYP4F22 Zornitza Stark Phenotypes for gene: CYP4F22 were changed from Ichthyosis, congenital, autosomal recessive 5, 604777 to Ichthyosis, congenital, autosomal recessive 5, MIM# 604777
Fetal anomalies v0.1438 CYP4F22 Zornitza Stark Classified gene: CYP4F22 as Red List (low evidence)
Fetal anomalies v0.1438 CYP4F22 Zornitza Stark Gene: cyp4f22 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1437 CYP4F22 Zornitza Stark reviewed gene: CYP4F22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 5, MIM# 604777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 OBSL1 Daniel Flanagan reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058, 19481195, 23018678, 19877176; Phenotypes: 3-M syndrome 2 (MIM#612921); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NUBPL Daniel Flanagan reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982452; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 (MIM#618242); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1437 NR5A1 Daniel Flanagan reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513305; Phenotypes: 46, XX sex reversal 4 (MIM#617480), 46XY sex reversal 3 (MIM#612965); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan Deleted their review
Fetal anomalies v0.1437 NR0B1 Daniel Flanagan reviewed gene: NR0B1: Rating: RED; Mode of pathogenicity: None; Publications: 7951319, 23384712; Phenotypes: 46XY sex reversal 2, dosage-sensitive (MIM#300018), Adrenal hypoplasia, congenital (MIM#300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.146 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Skeletal dysplasia v0.145 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Skeletal dysplasia v0.144 CYP26B1 Zornitza Stark Mode of inheritance for gene: CYP26B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.143 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Skeletal dysplasia v0.143 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.142 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 v0.10301 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
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
Craniosynostosis v1.29 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from 614416 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1437 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Fetal anomalies v0.1436 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Fetal anomalies v0.1435 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Fetal anomalies v0.1435 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1434 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
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Marked gene: CYB5R3 as ready
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Gene: cyb5r3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1434 CYB5R3 Zornitza Stark Phenotypes for gene: CYB5R3 were changed from METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE to Methaemoglobinemia, type II, MIM# 250800
Fetal anomalies v0.1433 CYB5R3 Zornitza Stark reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Methaemoglobinemia, type II, MIM# 250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1433 CUX2 Zornitza Stark Marked gene: CUX2 as ready
Fetal anomalies v0.1433 CUX2 Zornitza Stark Gene: cux2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1433 CUX2 Zornitza Stark Phenotypes for gene: CUX2 were changed from Developmental epileptic encephalopathy to Epileptic encephalopathy, early infantile, 67, MIM#618141
Fetal anomalies v0.1432 CUX2 Zornitza Stark Publications for gene: CUX2 were set to
Fetal anomalies v0.1431 CUX2 Zornitza Stark Mode of inheritance for gene: CUX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1430 CUX2 Zornitza Stark Classified gene: CUX2 as Red List (low evidence)
Fetal anomalies v0.1430 CUX2 Zornitza Stark Gene: cux2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1429 CUX2 Zornitza Stark Deleted their comment
Fetal anomalies v0.1429 CUX2 Zornitza Stark edited their review of gene: CUX2: Added comment: Onset in infancy but congenital abnormalities are not a feature.; Changed rating: RED
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
Fetal anomalies v0.1429 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Fetal anomalies v0.1428 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Fetal anomalies v0.1427 CTU2 Zornitza Stark Classified gene: CTU2 as Green List (high evidence)
Fetal anomalies v0.1427 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Marked gene: CTNND1 as ready
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1426 CTNND1 Zornitza Stark Phenotypes for gene: CTNND1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 2, MIM# 617681
Fetal anomalies v0.1425 CTNND1 Zornitza Stark Publications for gene: CTNND1 were set to
Fetal anomalies v0.1424 CTNND1 Zornitza Stark Classified gene: CTNND1 as Green List (high evidence)
Fetal anomalies v0.1424 CTNND1 Zornitza Stark Gene: ctnnd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1423 CTNND1 Zornitza Stark changed review comment from: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues. Unclear from description whether significant ID present.
Sources: Literature; to: 4 individuals from 3 unrelated families with blepharocheilodontic syndrome and mutations in the CTNND1 gene reported originally in PMID 28301459. All had eyelid anomalies, including ectropion of the lower lids, euryblepharon, lagophthalmia, and distichiasis. In addition, all 4 showed typical facial dysmorphism with hypertelorism, flat face, and high forehead, and all had conical teeth and tooth agenesis. Three had cleft lip and palate, 3 had hair anomalies, and 1 had hypothyroidism due to hypoplasia or aplasia of the thyroid gland. None of the patients exhibited anal atresia or neural tube defects.

PMID: 32196547 - Alharatani et al 2020 - report an expanded phenotype for CTNND1 patients. They report 13 individuals from nine families with novel protein-truncating variants in CTNND1 identified by WES. The mutations were not previously described in blepharocheilodontic (BCD), orofacial cleft cases nor in gnomAD. 8 patients had de novo variants, 2 inherited from affected parents, 2 participants inherited a variant from a parent with a mild phenotype. 8/13 patients showed cleft palate. Additional phenotypic features seen include mild limb phenotypes (9/13), cardiovascular anomalies (6/13) and Developmental delay and other neurodevelopmental problems (8/13).

This more recent publication suggests a broader phenotype associated with CTNND1 variants including dev delay, ADHD/ASD, behavioural issues.
Sources: Literature
Fetal anomalies v0.1423 CTNND1 Zornitza Stark edited their review of gene: CTNND1: Changed rating: GREEN
Fetal anomalies v0.1423 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1423 CHRNE Zornitza Stark Classified gene: CHRNE as Green List (high evidence)
Fetal anomalies v0.1423 CHRNE Zornitza Stark Gene: chrne has been classified as Green List (High Evidence).
Fetal anomalies v0.1422 CHRNE Zornitza Stark changed review comment from: Well established association with congenital myasthenia, some individuals reported with arthrogryposis but cannot find specific reports of multiple pterygium syndrome.; to: Well established association with congenital myasthenia, some individuals reported with arthrogryposis.
Fetal anomalies v0.1422 CHRNE Zornitza Stark edited their review of gene: CHRNE: Changed rating: GREEN
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
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
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1422 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Fetal anomalies v0.1421 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to 20301787; 14517542; 24690360; 29174527
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Tag founder tag was added to gene: CTDP1.
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Classified gene: CTDP1 as Green List (high evidence)
Fetal anomalies v0.1420 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1419 CSTA Zornitza Stark Marked gene: CSTA as ready
Fetal anomalies v0.1419 CSTA Zornitza Stark Gene: csta has been classified as Red List (Low Evidence).
Fetal anomalies v0.1419 CSTA Zornitza Stark Phenotypes for gene: CSTA were changed from EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE to Peeling skin syndrome 4, MIM# 607936
Fetal anomalies v0.1418 CSTA Zornitza Stark Classified gene: CSTA as Red List (low evidence)
Fetal anomalies v0.1418 CSTA Zornitza Stark Gene: csta has been classified as Red List (Low Evidence).
Fetal anomalies v0.1417 CSTA Zornitza Stark reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peeling skin syndrome 4, MIM# 607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1417 CRIPT Zornitza Stark Marked gene: CRIPT as ready
Fetal anomalies v0.1417 CRIPT Zornitza Stark Gene: cript has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1417 CRIPT Zornitza Stark Publications for gene: CRIPT were set to
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Marked gene: CRELD1 as ready
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1416 CRELD1 Zornitza Stark Phenotypes for gene: CRELD1 were changed from HETEROTAXY SYNDROME to Atrioventricular septal defect, partial, with heterotaxy syndrome 606217
Fetal anomalies v0.1415 CRELD1 Zornitza Stark Publications for gene: CRELD1 were set to
Fetal anomalies v0.1414 CRELD1 Zornitza Stark Mode of inheritance for gene: CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1413 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Fetal anomalies v0.1412 CREB3L1 Zornitza Stark Classified gene: CREB3L1 as Green List (high evidence)
Fetal anomalies v0.1412 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1411 CREB3L1 Zornitza Stark reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1411 CRADD Zornitza Stark Marked gene: CRADD as ready
Fetal anomalies v0.1411 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Fetal anomalies v0.1411 CRADD Zornitza Stark Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499
Fetal anomalies v0.1410 CRADD Zornitza Stark Publications for gene: CRADD were set to
Fetal anomalies v0.1409 CRADD Zornitza Stark Classified gene: CRADD as Green List (high evidence)
Fetal anomalies v0.1409 CRADD Zornitza Stark Gene: cradd has been classified as Green List (High Evidence).
Fetal anomalies v0.1408 HHAT Zornitza Stark Marked gene: HHAT as ready
Fetal anomalies v0.1408 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Fetal anomalies v0.1408 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Fetal anomalies v0.1408 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Fetal anomalies v0.1407 HHAT Zornitza Stark gene: HHAT was added
gene: HHAT was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 24784881; 30912300; 33749989
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to GREEN
Added comment: Clinical features include progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, micromelia, and sex reversal.
Sources: Expert Review
Skeletal dysplasia v0.142 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Skeletal dysplasia v0.141 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Skeletal dysplasia v0.141 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal dysplasia v0.140 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989; Changed phenotypes: Nivelon-Nivelon-Mabille syndrome 600092
Microcephaly v1.86 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Microcephaly v1.85 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Microcephaly v1.85 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Microcephaly v1.84 HHAT Zornitza Stark commented on gene: HHAT: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.
Microcephaly v1.84 HHAT Zornitza Stark edited their review of gene: HHAT: Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
Cerebellar and Pontocerebellar Hypoplasia v1.23 HHAT Zornitza Stark Publications for gene: HHAT were set to 24784881; 30912300
Cerebellar and Pontocerebellar Hypoplasia v1.22 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.22 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Cerebellar and Pontocerebellar Hypoplasia v1.21 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported, with severe microcephaly, skeletal dysplasia and sex reversal phenotype.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
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
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.275 SPIDR Zornitza Stark Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.274 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 v0.10290 SPIDR Zornitza Stark Marked gene: SPIDR as ready
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
Cholestasis v0.214 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis, progressive familial intrahepatic, 8 619662 to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Cholestasis v0.213 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8 619662
Cholestasis v0.212 KIF12 Zornitza Stark edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Liver Failure_Paediatric v1.9 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068
Liver Failure_Paediatric v1.8 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting disorders v0.161 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, OMIM #612726 to Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520; OKS; submucous cleft palate; Hardikar syndrome, MIM# 301068
Clefting disorders v0.160 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Syndromic Retinopathy v0.183 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Hardikar syndrome, OMIM #612726 to Hardikar syndrome, MIM# 301068
Syndromic Retinopathy v0.182 MED12 Zornitza Stark reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hardikar syndrome, MIM# 301068; 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 v0.10288 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
Intellectual disability syndromic and non-syndromic v0.4381 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
Intellectual disability syndromic and non-syndromic v0.4380 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 v0.10287 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
Cerebral Palsy v1.20 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
Cerebral Palsy v1.19 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
Proteinuria v0.172 ITSN1 Zornitza Stark Phenotypes for gene: ITSN1 were changed from Early childhood SSNS to Nephrotic syndrome
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 Marked gene: MSR1 as ready
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 Marked gene: CPAMD8 as ready
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
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1406 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, MIM# 617319
Fetal anomalies v0.1405 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Fetal anomalies v0.1404 CPAMD8 Zornitza Stark Classified gene: CPAMD8 as Green List (high evidence)
Fetal anomalies v0.1404 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Fetal anomalies v0.1403 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
Fetal anomalies v0.1403 COLQ Zornitza Stark Marked gene: COLQ as ready
Fetal anomalies v0.1403 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Fetal anomalies v0.1403 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 to Myasthenic syndrome, congenital, 5, MIM#603034
Fetal anomalies v0.1402 COLQ Zornitza Stark Publications for gene: COLQ were set to 9689136; 11865139
Fetal anomalies v0.1401 COLQ Zornitza Stark Classified gene: COLQ as Red List (low evidence)
Fetal anomalies v0.1401 COLQ Zornitza Stark Gene: colq has been classified as Red List (Low Evidence).
Fetal anomalies v0.1400 COLQ Zornitza Stark changed review comment from: Well established gene-disease association, more than 10 families reported. However, cannot find reports of presentation with multiple pterygia specifically.; to: Well established gene-disease association, more than 10 families reported. However, contractures not reported, and variable age of onset/progression.
Fetal anomalies v0.1400 COLQ Zornitza Stark edited their review of gene: COLQ: Changed rating: RED
Cholestasis v0.212 USP53 Zornitza Stark Publications for gene: USP53 were set to 30250217; 32124521
Cholestasis v0.211 USP53 Zornitza Stark changed review comment from: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness.
Sources: Literature
Cholestasis v0.211 USP53 Zornitza Stark edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013
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
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Marked gene: USP53 as ready
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Classified gene: USP53 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.108 USP53 Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.107 USP53 Zornitza Stark changed review comment from: 12 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).

Deafness reported in two families, childhood onset.
Sources: Expert Review; to: 12 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).

Deafness reported in two families, childhood onset.
Sources: Expert Review
Deafness_IsolatedAndComplex v1.107 USP53 Zornitza Stark gene: USP53 was added
gene: USP53 was added to Deafness_IsolatedAndComplex. Sources: Expert Review
Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP53 were set to 30250217; 32124521; 33075013
Phenotypes for gene: USP53 were set to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Review for gene: USP53 was set to AMBER
Added comment: 12 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).

Deafness reported in two families, childhood onset.
Sources: Expert Review
Cholestasis v0.211 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 v0.10272 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
Cholestasis v0.210 USP53 Zornitza Stark edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Marked gene: HOXB1 as ready
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1400 HOXB1 Zornitza Stark Phenotypes for gene: HOXB1 were changed from FACIAL PARESIS, HEREDITARY CONGENITAL, 3 to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880
Fetal anomalies v0.1399 HOXB1 Zornitza Stark Publications for gene: HOXB1 were set to
Fetal anomalies v0.1398 HOXB1 Zornitza Stark Classified gene: HOXB1 as Red List (low evidence)
Fetal anomalies v0.1398 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1397 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: RED; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744, MONDO:0013880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10271 HOXB1 Zornitza Stark Marked gene: HOXB1 as ready
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
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Mendeliome v0.10268 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
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
Fetal anomalies v0.1397 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Fetal anomalies v0.1396 COLEC10 Zornitza Stark Classified gene: COLEC10 as Green List (high evidence)
Fetal anomalies v0.1396 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: Cleft lip/palate are a feature.; to: Cleft lip/palate are a feature. At least 4 families reported.
Fetal anomalies v0.1395 COLEC10 Zornitza Stark edited their review of gene: COLEC10: Changed publications: 28301481, 34740859
Fetal anomalies v0.1395 COLEC10 Zornitza Stark changed review comment from: ID is not reported as a feature in molecularly confirmed cases with variants in this gene.; to: Cleft lip/palate are a feature.
Fetal anomalies v0.1395 COLEC10 Zornitza Stark edited their review of gene: COLEC10: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4380 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Intellectual disability syndromic and non-syndromic v0.4380 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4380 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from to Mental retardation, autosomal dominant 34, MIM# 616351
Intellectual disability syndromic and non-syndromic v0.4379 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Intellectual disability syndromic and non-syndromic v0.4378 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4377 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 v0.10265 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
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
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1395 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 34, MIM# 616351
Fetal anomalies v0.1394 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Fetal anomalies v0.1393 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1392 COL4A3BP Zornitza Stark Classified gene: COL4A3BP as Red List (low evidence)
Fetal anomalies v0.1392 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Red List (Low Evidence).
Fetal anomalies v0.1391 COL4A3BP Zornitza Stark edited their review of gene: COL4A3BP: Changed rating: RED
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Marked gene: COL25A1 as ready
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1391 COL25A1 Zornitza Stark Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219
Fetal anomalies v0.1390 COL25A1 Zornitza Stark Publications for gene: COL25A1 were set to
Fetal anomalies v0.1389 COL25A1 Zornitza Stark Classified gene: COL25A1 as Red List (low evidence)
Fetal anomalies v0.1389 COL25A1 Zornitza Stark Gene: col25a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1388 COL25A1 Zornitza Stark reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: None; Publications: 25500261, 26486031, 31875546, 26437029; Phenotypes: Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Marked gene: COL13A1 as ready
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1388 COL13A1 Zornitza Stark Publications for gene: COL13A1 were set to
Fetal anomalies v0.1387 COL13A1 Zornitza Stark Classified gene: COL13A1 as Green List (high evidence)
Fetal anomalies v0.1387 COL13A1 Zornitza Stark Gene: col13a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1386 COL13A1 Zornitza Stark reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31081514, 28369367, 20844119; Phenotypes: Myasthenic syndrome, congenital, 19 (OMIM #616720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.118 MIB1 Zornitza Stark Publications for gene: MIB1 were set to
Cardiomyopathy_Paediatric v0.117 MIB1 Zornitza Stark Classified gene: MIB1 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.117 MIB1 Zornitza Stark Gene: mib1 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.116 MIB1 Zornitza Stark edited their review of gene: MIB1: Changed rating: RED
Congenital Heart Defect v0.164 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Congenital Heart Defect v0.164 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.163 MIB1 Zornitza Stark changed review comment from: Established congenital cardiac disease gene. PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert Review; to: 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.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert Review
Congenital Heart Defect v0.163 MIB1 Zornitza Stark edited their review of gene: MIB1: Changed rating: AMBER
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.
Callosome v0.350 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Callosome v0.350 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Callosome v0.350 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337
Callosome v0.349 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Callosome v0.348 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.347 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1413 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Genetic Epilepsy v0.1413 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1413 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337
Genetic Epilepsy v0.1412 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Genetic Epilepsy v0.1411 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1410 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.84 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Microcephaly v1.84 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Microcephaly v1.84 ZBTB18 Zornitza Stark Classified gene: ZBTB18 as Green List (high evidence)
Microcephaly v1.84 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Microcephaly v1.83 ZBTB18 Zornitza Stark gene: ZBTB18 was added
gene: ZBTB18 was added to Microcephaly. Sources: Expert Review
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB18 were set to 29573576
Phenotypes for gene: ZBTB18 were set to Mental retardation, autosomal dominant 22, MIM# 612337
Review for gene: ZBTB18 was set to GREEN
Added comment: Van der Schoot et al. (2018) reported 4 unrelated patients with MRD22 and summarized clinical information on 21 previously reported patients. All 25 patients had developmental delay, including 7 of 17 with microcephaly, 9 of 15 with corpus callosum abnormalities, 10 of 13 with dysmorphic facial features, and 4 of 17 with seizures.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4377 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Intellectual disability syndromic and non-syndromic v0.4377 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4377 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities
Intellectual disability syndromic and non-syndromic v0.4376 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Intellectual disability syndromic and non-syndromic v0.4375 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337, Intellectual disability, microcephaly, corpus callosum abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Marked gene: ZBTB18 as ready
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Gene: zbtb18 has been classified as Green List (High Evidence).
Fetal anomalies v0.1386 ZBTB18 Zornitza Stark Phenotypes for gene: ZBTB18 were changed from ZBTB18 syndrome to Mental retardation, autosomal dominant 22, MIM# 612337; Intellectual disability; microcephaly; corpus callosum abnormalities
Fetal anomalies v0.1385 ZBTB18 Zornitza Stark Publications for gene: ZBTB18 were set to
Fetal anomalies v0.1384 ZBTB18 Zornitza Stark Mode of inheritance for gene: ZBTB18 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1383 ZBTB18 Zornitza Stark reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573576; Phenotypes: Mental retardation, autosomal dominant 22, MIM# 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4374 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, MIM# 259050
Intellectual disability syndromic and non-syndromic v0.4373 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Intellectual disability syndromic and non-syndromic v0.4372 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4371 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 v0.10260 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
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Fetal anomalies v0.1383 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from PRIMROSE SYNDROME to Primrose syndrome, MIM# 259050
Fetal anomalies v0.1382 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Fetal anomalies v0.1381 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1380 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
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Marked gene: ZFP57 as ready
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Gene: zfp57 has been classified as Green List (High Evidence).
Fetal anomalies v0.1380 ZFP57 Zornitza Stark Phenotypes for gene: ZFP57 were changed from DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL to Diabetes mellitus, transient neonatal 1, OMIM #601410
Fetal anomalies v0.1379 ZFP57 Zornitza Stark Mode of inheritance for gene: ZFP57 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Marked gene: ZIC2 as ready
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Gene: zic2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637; MONDO:0012322 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322
Fetal anomalies v0.1378 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322
Fetal anomalies v0.1377 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to 20531442
Fetal anomalies v0.1375 ZIC2 Zornitza Stark Phenotypes for gene: ZIC2 were changed from HOLOPROSENCEPHALY to Holoprosencephaly 5, OMIM #609637
Fetal anomalies v0.1374 ZIC2 Zornitza Stark Publications for gene: ZIC2 were set to
Fetal anomalies v0.1373 ZIC2 Zornitza Stark Mode of inheritance for gene: ZIC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to 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
Fetal anomalies v0.1372 ZBTB18 Alison Yeung reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ZBTB18 syndrome, Intellectual disability, microcephaly, corpus callosum abnormalities, OMIM #612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1372 ZBTB20 Alison Yeung reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primrose syndrome OMIM # 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1372 ZFP57 Alison Yeung reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, transient neonatal 1, OMIM #601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v0.1372 ZIC2 Alison Yeung reviewed gene: ZIC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20531442; Phenotypes: Holoprosencephaly 5, OMIM #609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Marked gene: COL12A1 as ready
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1372 COL12A1 Zornitza Stark edited their review of gene: COL12A1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1372 COL12A1 Zornitza Stark edited their review of gene: COL12A1: Changed phenotypes: Ullrich congenital muscular dystrophy 2, 616470, Bethlem myopathy 2, 616471
Fetal anomalies v0.1372 COL12A1 Zornitza Stark Phenotypes for gene: COL12A1 were changed from ?Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy 2, 616471
Fetal anomalies v0.1371 COL12A1 Zornitza Stark Publications for gene: COL12A1 were set to
Fetal anomalies v0.1370 COL12A1 Zornitza Stark Classified gene: COL12A1 as Green List (high evidence)
Fetal anomalies v0.1370 COL12A1 Zornitza Stark Gene: col12a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.1369 COL12A1 Zornitza Stark reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334604, 24334769, 21670218; Phenotypes: Bethlem myopathy 2, MIM# 616471; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1369 COG6 Zornitza Stark Marked gene: COG6 as ready
Fetal anomalies v0.1369 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1369 COG6 Zornitza Stark Classified gene: COG6 as Green List (high evidence)
Fetal anomalies v0.1369 COG6 Zornitza Stark Gene: cog6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1368 COG6 Zornitza Stark changed review comment from: ID is part of the phenotype.; to: IUGR and microcephaly are a feature.
Fetal anomalies v0.1368 COG5 Zornitza Stark Marked gene: COG5 as ready
Fetal anomalies v0.1368 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1368 COG5 Zornitza Stark Publications for gene: COG5 were set to
Fetal anomalies v0.1367 COG5 Zornitza Stark Classified gene: COG5 as Green List (high evidence)
Fetal anomalies v0.1367 COG5 Zornitza Stark Gene: cog5 has been classified as Green List (High Evidence).
Fetal anomalies v0.1366 COG5 Zornitza Stark changed review comment from: More than 5 unrelated families reported, ID is a consistent feature.; to: More than 5 unrelated families reported, microcephaly reported.
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Marked gene: ALDH1A2 as ready
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Gene: aldh1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Classified gene: ALDH1A2 as Green List (high evidence)
Fetal anomalies v0.1366 ALDH1A2 Zornitza Stark Gene: aldh1a2 has been classified as Green List (High Evidence).
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Marked gene: ADAMTS19 as ready
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Classified gene: ADAMTS19 as Green List (high evidence)
Fetal anomalies v0.1365 ADAMTS19 Zornitza Stark Gene: adamts19 has been classified as Green List (High Evidence).
Fetal anomalies v0.1364 TTC12 Zornitza Stark Marked gene: TTC12 as ready
Fetal anomalies v0.1364 TTC12 Zornitza Stark Gene: ttc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1364 TTC12 Zornitza Stark Classified gene: TTC12 as Red List (low evidence)
Fetal anomalies v0.1364 TTC12 Zornitza Stark Gene: ttc12 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1363 TP73 Zornitza Stark Marked gene: TP73 as ready
Fetal anomalies v0.1363 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Fetal anomalies v0.1363 TP73 Zornitza Stark Classified gene: TP73 as Green List (high evidence)
Fetal anomalies v0.1363 TP73 Zornitza Stark Gene: tp73 has been classified as Green List (High Evidence).
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Classified gene: SPEF2 as Red List (low evidence)
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1361 ALDH1A2 Krithika Murali gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 19886994; 10192400
Phenotypes for gene: ALDH1A2 were set to Congenital heart defects; diaphragmatic eventration; pulmonary hypoplasia; thymus aplasia
Review for gene: ALDH1A2 was set to GREEN
Added comment: Biallellic variants in two unrelated, non-consanguineous families associated with multiple anomalies - including congenital heart disease, eventration of the diaphragm/diaphragmatic hernia, pulmonary hypoplasia dysmorphic features, thymus aplasia - a number of which were detected antenatally. Functional assays suggest the variants in the 2 families are hypomorphic. Knockout mouse model is embryonic lethal due to in utero defects in early heart morphogenesis.
Sources: Expert list, Literature
Fetal anomalies v0.1361 ADAMTS19 Krithika Murali gene: ADAMTS19 was added
gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 32323311; 31844321
Phenotypes for gene: ADAMTS19 were set to Heart valve disease (HVD)
Review for gene: ADAMTS19 was set to GREEN
Added comment: PMID 32323311 reports 3 additional consanguineous families (2 affected sibs in each) with anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. All 3 families had homozygous LoF variants in ADAMTS19, which segregated with disease. No functional studies.

Previously reported 4 affected in 2 unrelated consanguineous families with non-syndromic heart valve disease. 1 family with an intragenic (exon 1-8) deletion and 1 nonsense variant. Carriers unaffected. Homozygous knockout mice for Adamts19 show aortic valve dysfunction, recapitulating aspects of the human phenotype
Sources: Expert list, Literature
Fetal anomalies v0.1361 TTC12 Krithika Murali gene: TTC12 was added
gene: TTC12 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC12 were set to 31978331
Phenotypes for gene: TTC12 were set to Ciliary dyskinesia, primary, 45 - MIM#618801
Review for gene: TTC12 was set to RED
Added comment: Four unrelated families reported, LoF variants, respiratory phenotype.
Sources: Literature
Fetal anomalies v0.1361 TP73 Krithika Murali gene: TP73 was added
gene: TP73 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 31130284; 34077761
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466
Review for gene: TP73 was set to GREEN
Added comment: 7 unrelated families reported. In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls.

Clinical features included recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Affected individuals also had neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum.
Sources: Literature
Fetal anomalies v0.1361 SPEF2 Krithika Murali gene: SPEF2 was added
gene: SPEF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to RED
Added comment: Biallelic variants associated with sperm morphological abnormalities. In some individuals recurrent sinopulmonary infections and bronchiectasis noted consistent with PCD-like phenotype. Mouse model showed infertility phenotype, hydrocephalus, sinusitis. No fetal phenotype reported.
Sources: Literature
Mendeliome v0.10257 ABO Zornitza Stark Marked gene: ABO as ready
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).
Combined Immunodeficiency v1.4 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
Combined Immunodeficiency v1.3 REL Zornitza Stark Publications for gene: REL were set to 31103457
Combined Immunodeficiency v1.2 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Combined Immunodeficiency v1.2 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.2 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Combined Immunodeficiency v1.2 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Combined Immunodeficiency v1.1 REL Zornitza Stark edited their review of gene: REL: Added comment: 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.; 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 v0.10253 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
Deafness_Isolated v1.19 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 26969326; 24164807
Deafness_Isolated v1.18 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Deafness_Isolated v1.18 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Deafness_Isolated v1.17 SLC26A5 Zornitza Stark changed review comment from: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.; to: Comment when marking as ready: 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.
Deafness_Isolated v1.17 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Deafness_IsolatedAndComplex v1.106 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark changed review comment from: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.; to: Comment when marking as ready: 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.
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed phenotypes: Deafness, autosomal recessive 61, MIM# 613865
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Marked gene: CNTN1 as ready
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Classified gene: CNTN1 as Amber List (moderate evidence)
Fetal anomalies v0.1361 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1360 CNTN1 Zornitza Stark edited their review of gene: CNTN1: Changed rating: AMBER
Fetal anomalies v0.1360 CNTN1 Zornitza Stark changed review comment from: Single family reported, some functional data, no further reports since 2008 identified. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.; to: Single family reported, some functional data, further family recently reported as part of a cohort. Some pathogenic variants reported in ClinVar by diagnostic laboratories.

Severe perinatal presentation.
Fetal anomalies v0.1360 CNTN1 Zornitza Stark edited their review of gene: CNTN1: Changed publications: 32779773, 19026398
Fetal anomalies v0.1360 CNTN1 Zornitza Stark Classified gene: CNTN1 as Red List (low evidence)
Fetal anomalies v0.1360 CNTN1 Zornitza Stark Gene: cntn1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1359 CNTN1 Zornitza Stark reviewed gene: CNTN1: Rating: RED; Mode of pathogenicity: None; Publications: 19026398; Phenotypes: Myopathy, congenital, Compton-North 612540; Mode of inheritance: None
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1359 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from INTELLECTUAL DISABILITY WITH EPILEPSY to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Fetal anomalies v0.1358 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Fetal anomalies v0.1357 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.1356 CNKSR2 Zornitza Stark Classified gene: CNKSR2 as Red List (low evidence)
Fetal anomalies v0.1356 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1355 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: RED; 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)
Fetal anomalies v0.1355 CNBP Zornitza Stark Tag STR tag was added to gene: CNBP.
Fetal anomalies v0.1355 CNBP Zornitza Stark Marked gene: CNBP as ready
Fetal anomalies v0.1355 CNBP Zornitza Stark Gene: cnbp has been classified as Red List (Low Evidence).