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Fetal anomalies v0.174 ARMC4 Zornitza Stark Publications for gene: ARMC4 were set to
Fetal anomalies v0.173 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Fetal anomalies v0.173 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Fetal anomalies v0.173 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from RETINITIS PIGMENTOSA TYPE 55; BARDET-BIEDL SYNDROME TYPE 3 to Bardet-Biedl syndrome 3, MIM# 600151
Fetal anomalies v0.172 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Fetal anomalies v0.171 ARL13B Zornitza Stark Marked gene: ARL13B as ready
Fetal anomalies v0.171 ARL13B Zornitza Stark Gene: arl13b has been classified as Green List (High Evidence).
Fetal anomalies v0.171 ARID1B Zornitza Stark Marked gene: ARID1B as ready
Fetal anomalies v0.171 ARID1B Zornitza Stark Gene: arid1b has been classified as Green List (High Evidence).
Fetal anomalies v0.171 ARID1B Zornitza Stark Phenotypes for gene: ARID1B were changed from COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 to Coffin-Siris syndrome 1, MIM 135900
Fetal anomalies v0.170 ARID1B Zornitza Stark Publications for gene: ARID1B were set to
Fetal anomalies v0.169 ARID1B Zornitza Stark Mode of inheritance for gene: ARID1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.168 ARID1B Zornitza Stark reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1, MIM 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.168 ARID1A Zornitza Stark Marked gene: ARID1A as ready
Fetal anomalies v0.168 ARID1A Zornitza Stark Gene: arid1a has been classified as Green List (High Evidence).
Fetal anomalies v0.168 ARID1A Zornitza Stark Phenotypes for gene: ARID1A were changed from COFFIN-SIRIS SYNDROME to Coffin-Siris syndrome 2 (MIM#614607)
Fetal anomalies v0.167 ARID1A Zornitza Stark Publications for gene: ARID1A were set to
Fetal anomalies v0.166 ARID1A Zornitza Stark Mode of inheritance for gene: ARID1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.165 ARID1A Zornitza Stark reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23929686, 22426308, 25168959; Phenotypes: Coffin-Siris syndrome 2 (MIM#614607); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Marked gene: ARHGAP31 as ready
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Gene: arhgap31 has been classified as Green List (High Evidence).
Fetal anomalies v0.165 ARHGAP31 Zornitza Stark Phenotypes for gene: ARHGAP31 were changed from ADAMS-OLIVER SYNDROME 1 to Adams-Oliver syndrome 1, MIM#100300
Fetal anomalies v0.164 ARHGAP31 Zornitza Stark Mode of inheritance for gene: ARHGAP31 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.163 ARHGAP31 Zornitza Stark changed review comment from: Classically cutis aplasia and transverse limb defects with normal cognition, intellectual disability rare.; to: Classically cutis aplasia and transverse limb defects with normal cognition.
Fetal anomalies v0.163 ARHGAP31 Zornitza Stark edited their review of gene: ARHGAP31: Changed rating: GREEN
Fetal anomalies v0.163 ARCN1 Zornitza Stark Marked gene: ARCN1 as ready
Fetal anomalies v0.163 ARCN1 Zornitza Stark Gene: arcn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.163 ARCN1 Zornitza Stark Publications for gene: ARCN1 were set to 27476655
Fetal anomalies v0.162 ARCN1 Zornitza Stark Mode of inheritance for gene: ARCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.161 AR Zornitza Stark Marked gene: AR as ready
Fetal anomalies v0.161 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Fetal anomalies v0.161 AR Zornitza Stark Phenotypes for gene: AR were changed from SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME to Androgen insensitivity, MIM# 300068
Fetal anomalies v0.160 AR Zornitza Stark changed review comment from: Progressive neurological condition, ID is not part of the phenotype.; to: DSD.
Fetal anomalies v0.160 AR Zornitza Stark edited their review of gene: AR: Changed rating: GREEN; Changed phenotypes: Androgen insensitivity, MIM# 300068
Fetal anomalies v0.160 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
Fetal anomalies v0.160 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Green List (High Evidence).
Fetal anomalies v0.160 AP4E1 Zornitza Stark Phenotypes for gene: AP4E1 were changed from Hereditary spastic paraplegia 51, MONDO:0013401; Spastic paraplegia 51, autosomal recessive, OMIM:613744 to Spastic paraplegia 51, autosomal recessive, MIM# 613744; MONDO:0013401
Fetal anomalies v0.159 AP4E1 Zornitza Stark Publications for gene: AP4E1 were set to
Fetal anomalies v0.158 ATAD1 Krithika Murali gene: ATAD1 was added
gene: ATAD1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 28180185; 29390050; 29659736
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4 - #618011
Review for gene: ATAD1 was set to GREEN
Added comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. Severe progressive neurological disorder, severe/profound intellectual disability is a feature.
Sources: Expert list, Literature
Fetal anomalies v0.158 HSPD1 Ain Roesley reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.158 ADCY6 Krithika Murali gene: ADCY6 was added
gene: ADCY6 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 24319099, 26257172, 31846058; 33820833
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8 - #616287
Review for gene: ADCY6 was set to GREEN
Added comment: PMID: 33820833 (2021) - Further 2 sibs reported with a homozygous c.3346C>T:p.Arg1116Cys variant in the ADCY6 gene. The family was identified from a cohort of 315 genetically undiagnosed and unrelated AMC families. Arthrogryposis and IUGR were detected prenatally.

Laquerriere et al. (2014): 2 sibs from a consanguineous family with an axoglial form of lethal congenital contracture syndrome, and homozygous missense ADCY6 mutation (R1116C). The parents were heterozygous for the mutation. Knocked down ADCY6 orthologs in zebrafish showed a loss of myelin basic protein expression in the peripheral nervous system but no defects in Schwann cell migration and axonal growth.

Gonzaga‐Jauregui et al. (2015): 1 patient with congenital hypotonia, distal joint contractures, hypomyelinating neuropathy, and vocal cord paralysis, and a homozygous missense ADCY6 variant. No functional studies. Deceased sister with a similar phenotype with hypotonia, areflexia, and hypomyelinating neuropathy who died at 18 months of respiratory insufficiency.

Agolini et al. (2020): 1 patient with severe form of AMC, with two novel compound heterozygous variants in ADCY6 (parents confirmed carriers), but no functional studies.
Sources: Expert list, Literature
Mendeliome v0.9628 SIK3 Krithika Murali gene: SIK3 was added
gene: SIK3 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Review for gene: SIK3 was set to AMBER
Added comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.

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

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

Mouse models support impaired chondrocyte development with skeletal dysplasia phenotye.
Sources: Expert list, Literature
Skeletal dysplasia v0.133 SIK3 Krithika Murali gene: SIK3 was added
gene: SIK3 was added to Skeletal dysplasia. Sources: Expert list,Literature
Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIK3 were set to 30232230; 22318228
Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type - #618162
Review for gene: SIK3 was set to AMBER
Added comment: Biallelic SIK3 variants reported in 2 siblings from a consanguineous family with an uncharacterised skeletal dysplasia. Radiographic features included widened/flared metaphyses with irregular ossifications, motheaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap seen in the tibias.

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

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

Mouse models support impaired chondrocyte development with skeletal dysplasia phenotype.
Sources: Expert list, Literature
Fetal anomalies v0.158 LIPA Daniel Flanagan reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28374935, 11487567; Phenotypes: Wolman disease, MIM#278000, Cholesteryl ester storage disease, MIM#278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.158 DCHS1 Belinda Chong reviewed gene: DCHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27262615, 22473091, 24056717, 29046692; Phenotypes: Van Maldergem syndrome 1, MIM# 601390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.158 HSF4 Ain Roesley reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 5, multiple types MIM#116800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.157 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Fetal anomalies v0.157 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Fetal anomalies v0.157 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Fetal anomalies v0.156 AP1S2 Zornitza Stark changed review comment from: Contractures are mentioned in the OMIM summary for this disorder, but do not appear to be a common/prominent feature.; to: Dandy-Walker malformation, hydrocephalus, intracranial calcifications reported in some patients.
Fetal anomalies v0.156 AP1S2 Zornitza Stark edited their review of gene: AP1S2: Changed rating: GREEN; Changed phenotypes: Pettigrew syndrome, MIM# 304340
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Ectodermal Dysplasia v0.57 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Ectodermal Dysplasia v0.56 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Ectodermal Dysplasia. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.

Included due to overlap with hair and dental anomalies.
Sources: Expert Review
Hair disorders v0.48 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Hair disorders v0.48 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Hair disorders v0.48 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Hair disorders v0.48 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Hair disorders v0.47 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Hair disorders. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.4 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Mendeliome v0.9628 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Mendeliome v0.9628 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Mendeliome v0.9628 ANTXR1 Zornitza Stark Phenotypes for gene: ANTXR1 were changed from to GAPO syndrome, MIM# 230740
Mendeliome v0.9627 ANTXR1 Zornitza Stark Publications for gene: ANTXR1 were set to
Growth failure v1.18 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Growth failure v1.18 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Growth failure v1.18 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Growth failure v1.18 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Growth failure v1.17 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Mendeliome v0.9626 ANTXR1 Zornitza Stark Mode of inheritance for gene: ANTXR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9625 ANTXR1 Zornitza Stark reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.156 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Fetal anomalies v0.156 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.156 ANTXR1 Zornitza Stark Phenotypes for gene: ANTXR1 were changed from GAPO SYNDROME to GAPO syndrome, MIM# 230740
Fetal anomalies v0.155 ANTXR1 Zornitza Stark Publications for gene: ANTXR1 were set to
Fetal anomalies v0.154 ANTXR1 Zornitza Stark reviewed gene: ANTXR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23602711, 25045128, 31425299, 30575274, 29436111, 28870703; Phenotypes: GAPO syndrome, MIM# 230740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.220 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Differences of Sex Development v0.220 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.220 ANOS1 Zornitza Stark Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Differences of Sex Development v0.219 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Differences of Sex Development v0.218 ANOS1 Zornitza Stark Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences of Sex Development v0.217 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9625 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Mendeliome v0.9625 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Mendeliome v0.9625 ANOS1 Zornitza Stark Phenotypes for gene: ANOS1 were changed from to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Mendeliome v0.9624 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Mendeliome v0.9623 ANOS1 Zornitza Stark Mode of inheritance for gene: ANOS1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9622 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.196 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.195 ANOS1 Zornitza Stark edited their review of gene: ANOS1: Changed publications: 1594017, 8504298, 8989261
Fetal anomalies v0.154 ANOS1 Zornitza Stark Marked gene: ANOS1 as ready
Fetal anomalies v0.154 ANOS1 Zornitza Stark Gene: anos1 has been classified as Green List (High Evidence).
Fetal anomalies v0.154 ANOS1 Zornitza Stark Phenotypes for gene: ANOS1 were changed from Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700 to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700
Fetal anomalies v0.153 ANOS1 Zornitza Stark Publications for gene: ANOS1 were set to
Fetal anomalies v0.152 ANOS1 Zornitza Stark reviewed gene: ANOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1594017, 8504298, 8989261; Phenotypes: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700; Mode of inheritance: None
Fetal anomalies v0.152 HSD17B3 Ain Roesley reviewed gene: HSD17B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohermaphroditism, male, with gynecomastia MIM#264300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.152 LIG4 Daniel Flanagan reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32534991, 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM#606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.152 HR Ain Roesley reviewed gene: HR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrichia with papular lesions MIM#209500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.152 ANKRD11 Zornitza Stark Marked gene: ANKRD11 as ready
Fetal anomalies v0.152 ANKRD11 Zornitza Stark Gene: ankrd11 has been classified as Green List (High Evidence).
Fetal anomalies v0.152 ANKRD11 Zornitza Stark Phenotypes for gene: ANKRD11 were changed from KBG SYNDROME to KBG syndrome, MIM# 148050
Fetal anomalies v0.151 ANKRD11 Zornitza Stark Publications for gene: ANKRD11 were set to
Fetal anomalies v0.150 ANKRD11 Zornitza Stark Mode of inheritance for gene: ANKRD11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.149 ANKRD11 Zornitza Stark changed review comment from: Single individual reported.
Sources: Literature; to: Well established gene-disease association. Microcephaly and skeletal abnormalities are common, in addition to ID and dysmorphic features.
Sources: Literature
Fetal anomalies v0.149 ANKRD11 Zornitza Stark edited their review of gene: ANKRD11: Changed rating: GREEN
Fetal anomalies v0.149 ANKH Zornitza Stark Marked gene: ANKH as ready
Fetal anomalies v0.149 ANKH Zornitza Stark Gene: ankh has been classified as Green List (High Evidence).
Fetal anomalies v0.149 ANKH Zornitza Stark Phenotypes for gene: ANKH were changed from CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE; CHONDROCALCINOSIS 2 to Craniometaphyseal dysplasia, MIM#123000
Fetal anomalies v0.148 HPSE2 Ain Roesley reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.148 ANKH Zornitza Stark Publications for gene: ANKH were set to
Fetal anomalies v0.147 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.146 ANKH Zornitza Stark edited their review of gene: ANKH: Changed publications: 11326272, 20358596
Fetal anomalies v0.146 ANKH Zornitza Stark changed review comment from: Intellectual disability is not part of the phenotype of this skeletal dysplasia.; to: Can present perinatally with skeletal abnormalities.
Fetal anomalies v0.146 ANKH Zornitza Stark edited their review of gene: ANKH: Changed rating: GREEN
Fetal anomalies v0.146 ANAPC1 Zornitza Stark Marked gene: ANAPC1 as ready
Fetal anomalies v0.146 ANAPC1 Zornitza Stark Gene: anapc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.146 ANAPC1 Zornitza Stark Phenotypes for gene: ANAPC1 were changed from Rothmund-Thomson Syndrome Type 1 to Rothmund-Thomson syndrome, type 1, MIM# 618625
Fetal anomalies v0.145 ANAPC1 Zornitza Stark edited their review of gene: ANAPC1: Changed phenotypes: Rothmund-Thomson syndrome, type 1, MIM# 618625
Fetal anomalies v0.145 ANAPC1 Zornitza Stark reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome, type 1 618625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.145 AMT Zornitza Stark Marked gene: AMT as ready
Fetal anomalies v0.145 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Fetal anomalies v0.145 AMT Zornitza Stark Phenotypes for gene: AMT were changed from GLYCINE ENCEPHALOPATHY to Glycine encephalopathy, MIM# 605899
Fetal anomalies v0.144 AMT Zornitza Stark Publications for gene: AMT were set to
Fetal anomalies v0.143 AMT Zornitza Stark reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 8188235, 11592811; Phenotypes: Glycine encephalopathy, MIM# 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 LIFR Daniel Flanagan reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334964; Phenotypes: Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.143 HOXD13 Ain Roesley reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type D MIM#113200, Brachydactyly, type E MIM#113300, Syndactyly, type V MIM#186300, Synpolydactyly 1 MIM#186000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.143 HOXA1 Ain Roesley reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155570, 18412118, 32864817; Phenotypes: Athabaskan brainstem dysgenesis syndrome MIM#601536, Bosley-Salih-Alorainy syndrome MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Interstitial Lung Disease v0.343 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Interstitial Lung Disease v0.343 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.343 FOXF1 Zornitza Stark Marked gene: FOXF1 as ready
Interstitial Lung Disease v0.343 FOXF1 Zornitza Stark Gene: foxf1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.343 FOXF1 Zornitza Stark Phenotypes for gene: FOXF1 were changed from to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
Interstitial Lung Disease v0.342 FOXF1 Zornitza Stark Publications for gene: FOXF1 were set to
Interstitial Lung Disease v0.341 FOXF1 Zornitza Stark Mode of inheritance for gene: FOXF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.340 ZNF341 Zornitza Stark Marked gene: ZNF341 as ready
Interstitial Lung Disease v0.340 ZNF341 Zornitza Stark Gene: znf341 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.340 ZNF341 Zornitza Stark Classified gene: ZNF341 as Red List (low evidence)
Interstitial Lung Disease v0.340 ZNF341 Zornitza Stark Gene: znf341 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.339 ZNF341 Zornitza Stark Publications for gene: ZNF341 were set to
Interstitial Lung Disease v0.338 ZNF341 Zornitza Stark Phenotypes for gene: ZNF341 were changed from to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Bronchiectasis
Interstitial Lung Disease v0.337 PIH1D3 Zornitza Stark Marked gene: PIH1D3 as ready
Interstitial Lung Disease v0.337 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.337 PIH1D3 Zornitza Stark Classified gene: PIH1D3 as Green List (high evidence)
Interstitial Lung Disease v0.337 PIH1D3 Zornitza Stark Gene: pih1d3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.336 PIH1D3 Zornitza Stark Publications for gene: PIH1D3 were set to
Interstitial Lung Disease v0.335 PIH1D3 Zornitza Stark Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked, MIM# 300991
Interstitial Lung Disease v0.334 PGM3 Zornitza Stark Marked gene: PGM3 as ready
Interstitial Lung Disease v0.334 PGM3 Zornitza Stark Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.334 PGM3 Zornitza Stark Classified gene: PGM3 as Amber List (moderate evidence)
Interstitial Lung Disease v0.334 PGM3 Zornitza Stark Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.333 PGM3 Zornitza Stark Publications for gene: PGM3 were set to
Interstitial Lung Disease v0.332 PGM3 Zornitza Stark Phenotypes for gene: PGM3 were changed from to Immunodeficiency 23, MIM# 615816; HIES (Job syndrome); Bronchiectasis
Interstitial Lung Disease v0.331 KCNK3 Zornitza Stark Marked gene: KCNK3 as ready
Interstitial Lung Disease v0.331 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.331 KCNK3 Zornitza Stark Phenotypes for gene: KCNK3 were changed from to Pulmonary hypertension, primary, 4 MIM#615344
Interstitial Lung Disease v0.330 KCNK3 Zornitza Stark Publications for gene: KCNK3 were set to
Fetal anomalies v0.143 LHX4 Daniel Flanagan reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11567216, 18445675, 27820671; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM#262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.329 KCNK3 Zornitza Stark Classified gene: KCNK3 as Amber List (moderate evidence)
Interstitial Lung Disease v0.329 KCNK3 Zornitza Stark Gene: kcnk3 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.328 DNAAF3 Zornitza Stark Marked gene: DNAAF3 as ready
Interstitial Lung Disease v0.328 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.328 DNAAF3 Zornitza Stark Phenotypes for gene: DNAAF3 were changed from to Ciliary dyskinesia, primary, 2, MIM# 606763
Interstitial Lung Disease v0.327 DNAAF3 Zornitza Stark Publications for gene: DNAAF3 were set to
Interstitial Lung Disease v0.326 DNAAF3 Zornitza Stark Classified gene: DNAAF3 as Green List (high evidence)
Interstitial Lung Disease v0.326 DNAAF3 Zornitza Stark Gene: dnaaf3 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.325 DNAAF3 Zornitza Stark reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22387996, 32622824, 31186518; Phenotypes: Ciliary dyskinesia, primary, 2, MIM# 606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.325 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.325 CAV1 Zornitza Stark Phenotypes for gene: CAV1 were changed from Pulmonary hypertension, primary, 3, MIM# 615343 to Pulmonary hypertension, primary, 3, MIM# 615343; Lipodystrophy, familial partial, type 7, MIM# 606721
Interstitial Lung Disease v0.324 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Interstitial Lung Disease v0.324 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.324 CAV1 Zornitza Stark Classified gene: CAV1 as Green List (high evidence)
Interstitial Lung Disease v0.324 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.323 CAV1 Zornitza Stark Publications for gene: CAV1 were set to
Interstitial Lung Disease v0.322 CAV1 Zornitza Stark Phenotypes for gene: CAV1 were changed from to Pulmonary hypertension, primary, 3, MIM# 615343
Interstitial Lung Disease v0.321 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Interstitial Lung Disease v0.321 CARD11 Zornitza Stark Gene: card11 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.321 CARD11 Zornitza Stark Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11B with atopic dermatitis, MIM# 617638; HIES (Job syndrome); Bronchiectasis
Interstitial Lung Disease v0.320 CARD11 Zornitza Stark Publications for gene: CARD11 were set to
Interstitial Lung Disease v0.319 CARD11 Zornitza Stark Classified gene: CARD11 as Red List (low evidence)
Interstitial Lung Disease v0.319 CARD11 Zornitza Stark Gene: card11 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.318 BMPR1B Zornitza Stark Marked gene: BMPR1B as ready
Interstitial Lung Disease v0.318 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.318 BMPR1B Zornitza Stark Phenotypes for gene: BMPR1B were changed from to Childhood pulmonary arterial hypertension
Interstitial Lung Disease v0.317 BMPR1B Zornitza Stark Publications for gene: BMPR1B were set to
Interstitial Lung Disease v0.316 BMPR1B Zornitza Stark Mode of pathogenicity for gene: BMPR1B was changed from None to Other
Interstitial Lung Disease v0.315 BMPR1B Zornitza Stark Classified gene: BMPR1B as Amber List (moderate evidence)
Interstitial Lung Disease v0.315 BMPR1B Zornitza Stark Gene: bmpr1b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.143 HNRNPK Ain Roesley reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Au-Kline syndrome MIM#616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Interstitial Lung Disease v0.314 TMEM173 Zornitza Stark Publications for gene: TMEM173 were set to 27613991; 32398023
Interstitial Lung Disease v0.313 TMEM173 Zornitza Stark Mode of pathogenicity for gene: TMEM173 was changed from to Other
Interstitial Lung Disease v0.312 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.311 TMEM173 Zornitza Stark edited their review of gene: TMEM173: Changed phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.311 TINF2 Zornitza Stark Classified gene: TINF2 as Amber List (moderate evidence)
Interstitial Lung Disease v0.311 TINF2 Zornitza Stark Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.310 TBX4 Zornitza Stark Publications for gene: TBX4 were set to 31761294; 31965066; 29631995; 23592887; 30578383
Interstitial Lung Disease v0.309 STAT3 Zornitza Stark Phenotypes for gene: STAT3 were changed from Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 to Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Childhood bronchiectasis, interstitial lung disease or pneumatocele
Interstitial Lung Disease v0.308 STAT3 Zornitza Stark Mode of pathogenicity for gene: STAT3 was changed from to Other
Interstitial Lung Disease v0.307 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Interstitial Lung Disease v0.307 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.307 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Childhood bronchiectasis
Interstitial Lung Disease v0.306 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Interstitial Lung Disease v0.305 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.304 SOX18 Zornitza Stark Marked gene: SOX18 as ready
Interstitial Lung Disease v0.304 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.304 SOX18 Zornitza Stark Phenotypes for gene: SOX18 were changed from to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Interstitial Lung Disease v0.303 SOX18 Zornitza Stark Publications for gene: SOX18 were set to
Interstitial Lung Disease v0.302 SOX18 Zornitza Stark Mode of inheritance for gene: SOX18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.301 SMAD9 Zornitza Stark Publications for gene: SMAD9 were set to 29844917; 21920918; 19211612; 21898662
Interstitial Lung Disease v0.300 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from Lysinuric protein intolerance, MIM# 222700 to Lysinuric protein intolerance, MIM# 222700; Childhood interstitial lung disease and pulmonary arterial proteinosis
Interstitial Lung Disease v0.299 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to 10080182; 18716612
Interstitial Lung Disease v0.298 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Interstitial Lung Disease v0.298 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.298 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from to Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)
Interstitial Lung Disease v0.297 SCNN1B Zornitza Stark Publications for gene: SCNN1B were set to
Interstitial Lung Disease v0.296 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.295 SCNN1B Zornitza Stark Classified gene: SCNN1B as Amber List (moderate evidence)
Interstitial Lung Disease v0.295 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.294 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Interstitial Lung Disease v0.294 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.294 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from to Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021; MONDO:0013087
Interstitial Lung Disease v0.293 SCNN1A Zornitza Stark Publications for gene: SCNN1A were set to
Interstitial Lung Disease v0.292 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.291 SCNN1A Zornitza Stark Classified gene: SCNN1A as Amber List (moderate evidence)
Interstitial Lung Disease v0.291 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.290 RSPH9 Zornitza Stark Publications for gene: RSPH9 were set to 25789548; 31285900
Interstitial Lung Disease v0.289 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to 25789548; 22448264
Interstitial Lung Disease v0.288 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to 23993197
Interstitial Lung Disease v0.287 MARS Zornitza Stark Publications for gene: MARS were set to 24103465; 25913036
Interstitial Lung Disease v0.286 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Interstitial Lung Disease v0.286 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Mendeliome v0.9622 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Mendeliome v0.9622 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Mendeliome v0.9622 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from to Cutis laxa, autosomal recessive, type IC, MIM# 613177
Mendeliome v0.9621 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Mendeliome v0.9620 LTBP4 Zornitza Stark Mode of inheritance for gene: LTBP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9619 LTBP4 Zornitza Stark reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829427, 19836010, 28684544; Phenotypes: Cutis laxa, autosomal recessive, type IC, MIM# 613177; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 HNF4A Ain Roesley reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Interstitial Lung Disease v0.286 LTBP4 Zornitza Stark Mode of inheritance for gene: LTBP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.285 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Interstitial Lung Disease v0.284 LTBP4 Zornitza Stark Phenotypes for gene: LTBP4 were changed from to Cutis laxa, autosomal recessive, type IC, MIM# 613177; Urban-Rifkin-Davis Syndrome – cutis laxa; Infant/Childhood emphysema
Interstitial Lung Disease v0.283 LRBA Zornitza Stark Marked gene: LRBA as ready
Interstitial Lung Disease v0.283 LRBA Zornitza Stark Gene: lrba has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.283 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like; Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease)
Interstitial Lung Disease v0.282 LRBA Zornitza Stark Publications for gene: LRBA were set to
Interstitial Lung Disease v0.281 LRBA Zornitza Stark Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Fetal anomalies v0.143 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Fetal anomalies v0.143 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Fetal anomalies v0.142 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Fetal anomalies v0.141 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491, 23114595, 30466509; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.280 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to 22512483; 25810266; 27717396; 32198874; 26854491; 23114595; 30466509
Interstitial Lung Disease v0.279 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Interstitial Lung Disease v0.278 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Interstitial Lung Disease v0.277 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.276 HRAS Zornitza Stark Marked gene: HRAS as ready
Interstitial Lung Disease v0.276 HRAS Zornitza Stark Gene: hras has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.276 HRAS Zornitza Stark Phenotypes for gene: HRAS were changed from to Costello syndrome 218040; chILD, pulmonary arterial hypertension
Interstitial Lung Disease v0.275 HRAS Zornitza Stark Publications for gene: HRAS were set to
Interstitial Lung Disease v0.274 HRAS Zornitza Stark Mode of pathogenicity for gene: HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Interstitial Lung Disease v0.273 HRAS Zornitza Stark Mode of inheritance for gene: HRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.272 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Interstitial Lung Disease v0.272 HPS6 Zornitza Stark Gene: hps6 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.272 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from to Hermansky-Pudlak syndrome 6, MIM# 614075
Interstitial Lung Disease v0.271 HPS6 Zornitza Stark Mode of inheritance for gene: HPS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.270 HPS6 Zornitza Stark Classified gene: HPS6 as Red List (low evidence)
Interstitial Lung Disease v0.270 HPS6 Zornitza Stark Gene: hps6 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.269 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Interstitial Lung Disease v0.269 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.269 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; Childhood pulmonary fibrosis
Interstitial Lung Disease v0.268 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Interstitial Lung Disease v0.267 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.266 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Interstitial Lung Disease v0.266 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.266 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; Childhood pulmonary fibrosis
Interstitial Lung Disease v0.265 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Interstitial Lung Disease v0.264 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.263 HPS1 Zornitza Stark reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.263 GDNF Zornitza Stark Marked gene: GDNF as ready
Interstitial Lung Disease v0.263 GDNF Zornitza Stark Gene: gdnf has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.263 GDNF Zornitza Stark Phenotypes for gene: GDNF were changed from to Central hypoventilation syndrome, MIM# 209880
Interstitial Lung Disease v0.262 GDNF Zornitza Stark Mode of inheritance for gene: GDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.261 GDNF Zornitza Stark Classified gene: GDNF as Red List (low evidence)
Interstitial Lung Disease v0.261 GDNF Zornitza Stark Gene: gdnf has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.260 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Interstitial Lung Disease v0.260 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.260 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to Immunodeficiency 21, MIM# 614172; MONDO:0042982; Emberger syndrome, MIM# 614038; MONDO:0013540; chILD, childhood pulmonary alveolar proteinosis
Interstitial Lung Disease v0.259 GATA2 Zornitza Stark Publications for gene: GATA2 were set to
Interstitial Lung Disease v0.258 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.257 FOXP1 Zornitza Stark Marked gene: FOXP1 as ready
Interstitial Lung Disease v0.257 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.257 FOXP1 Zornitza Stark Phenotypes for gene: FOXP1 were changed from to Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)
Interstitial Lung Disease v0.256 FOXP1 Zornitza Stark Publications for gene: FOXP1 were set to
Interstitial Lung Disease v0.255 FOXP1 Zornitza Stark Mode of inheritance for gene: FOXP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.254 FOXP1 Zornitza Stark Classified gene: FOXP1 as Red List (low evidence)
Interstitial Lung Disease v0.254 FOXP1 Zornitza Stark Gene: foxp1 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.253 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Interstitial Lung Disease v0.253 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.253 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400; infant pulmonary lymphangiectasia
Interstitial Lung Disease v0.252 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Interstitial Lung Disease v0.251 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.250 FOXC2 Zornitza Stark Classified gene: FOXC2 as Amber List (moderate evidence)
Interstitial Lung Disease v0.250 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.249 FLNA Zornitza Stark Marked gene: FLNA as ready
Interstitial Lung Disease v0.249 FLNA Zornitza Stark Gene: flna has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.249 FLNA Zornitza Stark Phenotypes for gene: FLNA were changed from to Interstitial lung disease
Interstitial Lung Disease v0.248 FLNA Zornitza Stark Publications for gene: FLNA were set to
Interstitial Lung Disease v0.247 FLNA Zornitza Stark Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Interstitial Lung Disease v0.246 FGFR2 Zornitza Stark Marked gene: FGFR2 as ready
Interstitial Lung Disease v0.246 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.246 FGFR2 Zornitza Stark Phenotypes for gene: FGFR2 were changed from to Ectrodactyly, pulmonary acinar dysplasia
Interstitial Lung Disease v0.245 FGFR2 Zornitza Stark Publications for gene: FGFR2 were set to
Interstitial Lung Disease v0.244 FGFR2 Zornitza Stark Mode of inheritance for gene: FGFR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.243 FGFR2 Zornitza Stark Classified gene: FGFR2 as Amber List (moderate evidence)
Interstitial Lung Disease v0.243 FGFR2 Zornitza Stark Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.242 FGF10 Zornitza Stark Marked gene: FGF10 as ready
Interstitial Lung Disease v0.242 FGF10 Zornitza Stark Gene: fgf10 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.242 FGF10 Zornitza Stark Phenotypes for gene: FGF10 were changed from to LADD syndrome, MIM# 149730; pulmonary hypoplasia
Interstitial Lung Disease v0.241 FGF10 Zornitza Stark Publications for gene: FGF10 were set to
Interstitial Lung Disease v0.240 FGF10 Zornitza Stark Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.239 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Interstitial Lung Disease v0.239 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.239 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700; Neonatal Marfan Syndrome - respiratory distress of the newborn/ pulmonary emphysema/ pneumothoraces.
Interstitial Lung Disease v0.238 FBN1 Zornitza Stark Publications for gene: FBN1 were set to
Interstitial Lung Disease v0.237 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.236 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Interstitial Lung Disease v0.236 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.236 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM# 219100; childhood-onset emphysema
Interstitial Lung Disease v0.235 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Interstitial Lung Disease v0.234 FBLN5 Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.233 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Interstitial Lung Disease v0.233 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.233 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from to Hennekam Syndrome, MIM# 235510; childhood pulmonary lymphangiectasia
Interstitial Lung Disease v0.232 FAT4 Zornitza Stark Publications for gene: FAT4 were set to
Interstitial Lung Disease v0.231 FAT4 Zornitza Stark Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.230 ENG Zornitza Stark Marked gene: ENG as ready
Interstitial Lung Disease v0.230 ENG Zornitza Stark Gene: eng has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.230 ENG Zornitza Stark Phenotypes for gene: ENG were changed from to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Pulmonary arterial hypertension
Interstitial Lung Disease v0.229 ENG Zornitza Stark Publications for gene: ENG were set to
Interstitial Lung Disease v0.228 ENG Zornitza Stark Mode of inheritance for gene: ENG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.227 ELN Zornitza Stark Marked gene: ELN as ready
Interstitial Lung Disease v0.227 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.227 ELN Zornitza Stark Phenotypes for gene: ELN were changed from to Cutis laxa, autosomal dominant, MIM# 123700
Interstitial Lung Disease v0.226 ELN Zornitza Stark Publications for gene: ELN were set to
Interstitial Lung Disease v0.225 ELN Zornitza Stark Mode of inheritance for gene: ELN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Classified gene: EFEMP2 as Green List (high evidence)
Fetal anomalies v0.141 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Mendeliome v0.9619 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Mendeliome v0.9619 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Fetal anomalies v0.140 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 30140196; 23532871; 31548410; 19664000
Phenotypes for gene: EFEMP2 were set to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Review for gene: EFEMP2 was set to GREEN
Added comment: Associated with pulmonary hypoplasia, hypoplastic diaphragm and diffuse lung disease, fractures, arthrogryposis. Over 20 unrelated families reported in the literature.
Sources: Expert Review
Mendeliome v0.9619 EFEMP2 Zornitza Stark Phenotypes for gene: EFEMP2 were changed from to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Mendeliome v0.9618 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Mendeliome v0.9617 EFEMP2 Zornitza Stark Mode of inheritance for gene: EFEMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9616 EFEMP2 Zornitza Stark reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30140196, 23532871, 31548410, 19664000; Phenotypes: Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 HNF1B Ain Roesley reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Interstitial Lung Disease v0.224 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Interstitial Lung Disease v0.224 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.224 EFEMP2 Zornitza Stark Phenotypes for gene: EFEMP2 were changed from to Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437
Interstitial Lung Disease v0.223 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Interstitial Lung Disease v0.222 EFEMP2 Zornitza Stark Mode of inheritance for gene: EFEMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.221 DOCK8 Zornitza Stark Marked gene: DOCK8 as ready
Interstitial Lung Disease v0.221 DOCK8 Zornitza Stark Gene: dock8 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1377 LAMC3 Daniel Flanagan gene: LAMC3 was added
gene: LAMC3 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMC3 were set to 33639934; 21572413; 34354730
Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, MIM#614115
Review for gene: LAMC3 was set to GREEN
Added comment: Biallelic LAMC3 variants cause occipital cortical malformation with 6 unrelated families reported. Childhood-onset seizures is the most common clinical manifestation, usually occurring around age 10.
Sources: Literature
Fetal anomalies v0.139 LAMC3 Daniel Flanagan reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33639934, 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.221 DOCK8 Zornitza Stark Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.220 DOCK8 Zornitza Stark Publications for gene: DOCK8 were set to
Interstitial Lung Disease v0.219 DOCK8 Zornitza Stark Phenotypes for gene: DOCK8 were changed from to Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700; Childhood bronchiectasis
Interstitial Lung Disease v0.218 DNAL1 Zornitza Stark Marked gene: DNAL1 as ready
Interstitial Lung Disease v0.218 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.218 DNAL1 Zornitza Stark Phenotypes for gene: DNAL1 were changed from to Ciliary dyskinesia, primary, 16, MIM# 614017
Fetal anomalies v0.139 HIBCH Ain Roesley reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026795, 25251209, 24299452, 32677093; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Interstitial Lung Disease v0.217 DNAL1 Zornitza Stark Publications for gene: DNAL1 were set to
Interstitial Lung Disease v0.216 DNAL1 Zornitza Stark Mode of inheritance for gene: DNAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.215 DNAL1 Zornitza Stark Classified gene: DNAL1 as Amber List (moderate evidence)
Interstitial Lung Disease v0.215 DNAL1 Zornitza Stark Gene: dnal1 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.214 DNAI2 Zornitza Stark Marked gene: DNAI2 as ready
Interstitial Lung Disease v0.214 DNAI2 Zornitza Stark Gene: dnai2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.214 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444
Interstitial Lung Disease v0.213 DNAI2 Zornitza Stark Publications for gene: DNAI2 were set to
Interstitial Lung Disease v0.212 DNAI2 Zornitza Stark Mode of inheritance for gene: DNAI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.211 DNAI1 Zornitza Stark Marked gene: DNAI1 as ready
Interstitial Lung Disease v0.211 DNAI1 Zornitza Stark Gene: dnai1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.211 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Interstitial Lung Disease v0.210 DNAI1 Zornitza Stark Publications for gene: DNAI1 were set to
Interstitial Lung Disease v0.209 DNAI1 Zornitza Stark Mode of inheritance for gene: DNAI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.139 HES7 Ain Roesley reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9616 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

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

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Intellectual disability syndromic and non-syndromic v0.4255 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

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

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Microcephaly v1.67 MYH10 Krithika Murali gene: MYH10 was added
gene: MYH10 was added to Microcephaly. Sources: Expert list,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYH10 were set to 24825879; 24901346; 25356899; 22495309; 25003005
Phenotypes for gene: MYH10 were set to Microcephaly; Intellectual Disability
Review for gene: MYH10 was set to GREEN
Added comment: De novo variants were identified in 5 unrelated individuals with moderate-severe ID and developmental delay.

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

Defects in heart development, body wall closure and other birth defects noted in mouse models.
Sources: Expert list, Literature
Fetal anomalies v0.139 HBA2 Ain Roesley reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HBA1 Ain Roesley reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131, Heinz body anemias, alpha-, MIM# 140700, Erythrocytosis 7, MIM# 617981; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HADHA Ain Roesley reviewed gene: HADHA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LCHAD deficiency, MIM# 609016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 HAAO Ain Roesley reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 28792876, 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.139 L2HGDH Daniel Flanagan reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: None; Publications: 20052767; Phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.208 DNAH5 Zornitza Stark Marked gene: DNAH5 as ready
Interstitial Lung Disease v0.208 DNAH5 Zornitza Stark Gene: dnah5 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.208 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from to Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)
Interstitial Lung Disease v0.207 DNAH5 Zornitza Stark Publications for gene: DNAH5 were set to
Interstitial Lung Disease v0.206 DNAH5 Zornitza Stark Mode of inheritance for gene: DNAH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.205 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Interstitial Lung Disease v0.205 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.205 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Interstitial Lung Disease v0.204 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to
Interstitial Lung Disease v0.203 DNAH11 Zornitza Stark Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.202 DNAAF2 Zornitza Stark Marked gene: DNAAF2 as ready
Interstitial Lung Disease v0.202 DNAAF2 Zornitza Stark Gene: dnaaf2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.202 DNAAF2 Zornitza Stark Phenotypes for gene: DNAAF2 were changed from to Ciliary dyskinesia, primary, 10, MIM# 612518
Interstitial Lung Disease v0.201 DNAAF2 Zornitza Stark Publications for gene: DNAAF2 were set to
Interstitial Lung Disease v0.200 DNAAF2 Zornitza Stark Mode of inheritance for gene: DNAAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.199 DNAAF1 Zornitza Stark Marked gene: DNAAF1 as ready
Interstitial Lung Disease v0.199 DNAAF1 Zornitza Stark Gene: dnaaf1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.199 DNAAF1 Zornitza Stark Phenotypes for gene: DNAAF1 were changed from to Ciliary dyskinesia, primary, 13, MIM# 613193
Interstitial Lung Disease v0.198 DNAAF1 Zornitza Stark Publications for gene: DNAAF1 were set to
Interstitial Lung Disease v0.197 DNAAF1 Zornitza Stark Mode of inheritance for gene: DNAAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9616 CSF2RB Zornitza Stark Marked gene: CSF2RB as ready
Mendeliome v0.9616 CSF2RB Zornitza Stark Gene: csf2rb has been classified as Green List (High Evidence).
Mendeliome v0.9616 CSF2RB Zornitza Stark Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370
Mendeliome v0.9615 CSF2RB Zornitza Stark Publications for gene: CSF2RB were set to
Mendeliome v0.9614 CSF2RB Zornitza Stark Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9613 CSF2RB Zornitza Stark reviewed gene: CSF2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205713, 27514590, 7568173, 30846703; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.196 CSF2RB Zornitza Stark Marked gene: CSF2RB as ready
Interstitial Lung Disease v0.196 CSF2RB Zornitza Stark Gene: csf2rb has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.196 CSF2RB Zornitza Stark Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370
Interstitial Lung Disease v0.195 CSF2RB Zornitza Stark Publications for gene: CSF2RB were set to
Interstitial Lung Disease v0.194 CSF2RB Zornitza Stark Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.193 CSF2RB Zornitza Stark Classified gene: CSF2RB as Amber List (moderate evidence)
Interstitial Lung Disease v0.193 CSF2RB Zornitza Stark Gene: csf2rb has been classified as Amber List (Moderate Evidence).
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from Pulmonary alveolar proteinosis to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Additional findings_Paediatric v0.263 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Additional findings_Paediatric v0.262 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.261 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.2 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to BIALLELIC, autosomal or pseudoautosomal
Phagocyte Defects v1.1 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9613 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Mendeliome v0.9613 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Mendeliome v0.9613 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Mendeliome v0.9612 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Mendeliome v0.9611 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9610 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark edited their review of gene: CSF2RA: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark changed review comment from: Males and females affected, variants are bi-allelic as gene is located in the PAR.; to: Males and females affected, variants are bi-allelic as gene is located in PAR1.
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark changed review comment from: Males and females affected, variants are bi-allelic.; to: Males and females affected, variants are bi-allelic as gene is located in the PAR.
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark commented on gene: CSF2RA: Males and females affected, variants are bi-allelic.
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.192 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.191 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Interstitial Lung Disease v0.190 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Interstitial Lung Disease v0.189 COPA Zornitza Stark Marked gene: COPA as ready
Interstitial Lung Disease v0.189 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.189 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.188 COPA Zornitza Stark Publications for gene: COPA were set to
Interstitial Lung Disease v0.187 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414
Interstitial Lung Disease v0.186 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Interstitial Lung Disease v0.186 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.139 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Fetal anomalies v0.139 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Fetal anomalies v0.139 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Fetal anomalies v0.138 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Marked gene: CCBE1 as ready
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Gene: ccbe1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.211 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
Hydrops fetalis v0.210 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Hydrops fetalis v0.209 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.208 CCBE1 Zornitza Stark reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19935664, 19911200, 19287381, 25925991, 27345729, 21778431; Phenotypes: Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.186 CCBE1 Zornitza Stark Phenotypes for gene: CCBE1 were changed from to Hennekam Syndrome, MIM#235510
Interstitial Lung Disease v0.185 CCBE1 Zornitza Stark Publications for gene: CCBE1 were set to
Interstitial Lung Disease v0.184 CCBE1 Zornitza Stark Mode of inheritance for gene: CCBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 PIH1D3 Suzanna Lindsey-Temple reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28176794, 28041644.; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Interstitial Lung Disease v0.183 ZNF341 Suzanna Lindsey-Temple reviewed gene: ZNF341: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29907691, 29907690.; Phenotypes: HIES, Bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 PGM3 Suzanna Lindsey-Temple reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24698316, 24589341, 28704707, 30264496.; Phenotypes: HIES (Job syndrome), Bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 KCNK3 Suzanna Lindsey-Temple reviewed gene: KCNK3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23883380, 27649371; Phenotypes: Pulmonary arterial hypertension.; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAAF3 Suzanna Lindsey-Temple reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22387996; Phenotypes: Primary ciliary dyskinesia, Childhood bronchiectasis, chILD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 CAV1 Suzanna Lindsey-Temple reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27717241, 22474227.; Phenotypes: Congenital generalised lipodystrophy, Childhood pulmonary arterial hypertension.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 CARD11 Suzanna Lindsey-Temple reviewed gene: CARD11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28628108, 28826773.; Phenotypes: HIES (Job syndrome), Bronchiectasis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 BMPR1B Suzanna Lindsey-Temple reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 22374147, 28768485.; Phenotypes: Childhood pulmonary arterial hypertension.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 RET Suzanna Lindsey-Temple reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.183 ZNF341 Suzanna Lindsey-Temple gene: ZNF341 was added
gene: ZNF341 was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 PIH1D3 Suzanna Lindsey-Temple gene: PIH1D3 was added
gene: PIH1D3 was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Interstitial Lung Disease v0.183 PGM3 Suzanna Lindsey-Temple gene: PGM3 was added
gene: PGM3 was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 KCNK3 Suzanna Lindsey-Temple gene: KCNK3 was added
gene: KCNK3 was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: KCNK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAAF3 Suzanna Lindsey-Temple gene: DNAAF3 was added
gene: DNAAF3 was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 CAV1 Suzanna Lindsey-Temple gene: CAV1 was added
gene: CAV1 was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 CARD11 Suzanna Lindsey-Temple gene: CARD11 was added
gene: CARD11 was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 BMPR1B Suzanna Lindsey-Temple gene: BMPR1B was added
gene: BMPR1B was added to Interstitial Lung Disease. Sources: Expert list
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 NME8 Suzanna Lindsey-Temple reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.183 EDN3 Suzanna Lindsey-Temple reviewed gene: EDN3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.183 TMEM173 Suzanna Lindsey-Temple reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25029335, 25401470, 27613991, 28087229.; Phenotypes: OMIM# 615934 - STING associated vasculopathy with onset in infancy (SAVI) - chILD, pulmonary fibrosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 TINF2 Suzanna Lindsey-Temple reviewed gene: TINF2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21477109.; Phenotypes: OMIM#613990 - Dyskeratosis congenital (DKCA3), pulmonary fibrosis, chILD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 STAT3 Suzanna Lindsey-Temple reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 21288777, 18602572, 17335882, 25038750, 25359994.; Phenotypes: HIES (Job syndrome), Childhood bronchiectasis, interstitial lung disease or pneumatocele; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 STAT1 Suzanna Lindsey-Temple reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28427548, 28367431, 21727188, 27379765, 26732859, 27114460.; Phenotypes: Childhood bronchiectasis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 SOX18 Suzanna Lindsey-Temple reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30549413, 33851505.; Phenotypes: Hypotrichosis–lymphedema–telangiectasia syndrome (HLTS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 SLC7A7 Suzanna Lindsey-Temple reviewed gene: SLC7A7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29058386, 25335805, 8319714, 7844671.; Phenotypes: Childhood interstitial lung disease and pulmonary arterial proteinosis.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 SCNN1B Suzanna Lindsey-Temple reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 SCNN1A Suzanna Lindsey-Temple reviewed gene: SCNN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 RPGR Suzanna Lindsey-Temple reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, retinal dystrophy, deafness. Childhood bronchiectasis and chILD.; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Interstitial Lung Disease v0.183 PHOX2B Suzanna Lindsey-Temple reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital central hypoventilation syndrome, Neonatal respiratory distress syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 OAS1 Suzanna Lindsey-Temple reviewed gene: OAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogammaglobinaemia, infant pulmonary alveolar proteinosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 NKX2-1 Suzanna Lindsey-Temple reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neonatal respiratory distress syndrome, chILD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 NF1 Suzanna Lindsey-Temple reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paediatric diffuse lung disease - rare.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 MARS Suzanna Lindsey-Temple reviewed gene: MARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30271085, 29655802.; Phenotypes: FTT, anaemia, liver disease, developmental delay, Childhood ILD and PAP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 LTBP4 Suzanna Lindsey-Temple reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22829427, 19836010, 28684544.; Phenotypes: Urban-Rifkin-Davis Syndrome – cutis laxa, Infant/Childhood emphysema.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 LRBA Suzanna Lindsey-Temple reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25468195, 30479781, 26768763, 28956255, 28512785.; Phenotypes: Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like. Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 ITGA3 Suzanna Lindsey-Temple reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23114595, 26854491, 27717396, 30466509, 25810266, 22512483.; Phenotypes: OMIM#614748 - ILNEB disorder comprising interstitial lung disease, nephrotic syndrome, junctional epidermolysis bullosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 HRAS Suzanna Lindsey-Temple reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18039947, 18978662, 27102959.; Phenotypes: Costello Syndrome - associated with respiratory distress of the newborn, chILD, pulmonary arterial hypertension.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 HPS6 Suzanna Lindsey-Temple reviewed gene: HPS6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: HPS6– oculocutaneous albinism, minor bleeding, lysosomal storage; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 HPS4 Suzanna Lindsey-Temple reviewed gene: HPS4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15108212, 12664304, 21833017.; Phenotypes: HPS4– oculocutaneous albinism, increased bleeding, lysosomal storage - Childhood pulmonary fibrosis.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 HPS1 Suzanna Lindsey-Temple reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9787100, 25379352, 27529121.; Phenotypes: HPS1– oculocutaneous albinism, increased bleeding, lysosomal storage. Childhood pulmonary fibrosis.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 GDNF Suzanna Lindsey-Temple reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 GATA2 Suzanna Lindsey-Temple reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25707267, 6577833, 24345756, 24227816; Phenotypes: Myelodysplastic syndrome, immunodeficiency, pulmonary dysfunction - chILD, childhood pulmonary alveolar proteinosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 FOXP1 Suzanna Lindsey-Temple reviewed gene: FOXP1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28884888; Phenotypes: Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 FOXC2 Suzanna Lindsey-Temple reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21918810, 25252123.; Phenotypes: Lower limb lymphoedema, districhiasis, ocular issues - Infant pulmonary lymphangiectasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 FLNA Suzanna Lindsey-Temple reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset interstitial lung disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Interstitial Lung Disease v0.183 FGFR2 Suzanna Lindsey-Temple reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27323706; Phenotypes: Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 FGF10 Suzanna Lindsey-Temple reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30639323, 30429870, 9916808.; Phenotypes: Lacrimoauriculodentodigital (LAAD) syndrome - pulmonary hypoplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 FBN1 Suzanna Lindsey-Temple reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31238364, 27138491, 17701892.; Phenotypes: Neonatal Marfan Syndrome - respiratory distress of the newborn/ pulmonary emphysema/ pneumothoraces.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 FBLN5 Suzanna Lindsey-Temple reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11805835, 30640789, 33509220, 24962763.; Phenotypes: Autosomal recessive cutis laxa (ARCL), type 1A - childhood-onset emphysema; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 FAT4 Suzanna Lindsey-Temple reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24913602, 14564208; Phenotypes: OMIM# 235510 - Hennekam Syndrome - childhood pulmonary lymphangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 ELN Suzanna Lindsey-Temple reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29501665, 15381555, 28383366, 18348261.; Phenotypes: OMIM#185500 - supravalvular aortic stenosis OMIM#123700 - Autosomal dominant cutis laxa; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 EFEMP2 Suzanna Lindsey-Temple reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30140196, 23532871, 31548410, 19664000.; Phenotypes: OMIM# 614437 - Autosomal recessive cutis laxa type 1B (ARCL1B); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DOCK8 Suzanna Lindsey-Temple reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25627830, 25724123, 20004785, 19776401, 23929855, 27207373.; Phenotypes: Childhood bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 CSF2RB Suzanna Lindsey-Temple reviewed gene: CSF2RB: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21205713, 27514590, 7568173, 30846703.; Phenotypes: OMIM#614370 Surfactant metabolism dysfunction, pulmonary, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 CSF2RA Suzanna Lindsey-Temple reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20622029, 25425184, 18955570; Phenotypes: Childhood pulmonary alveolar proteinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 COPA Suzanna Lindsey-Temple reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27048656, 30385646, 30804679, 29977900; Phenotypes: COPA syndrome - autoimmune disorder associated with childhood interstitial lung disease and pulmonary haemorrhage, arthritis,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 CCBE1 Suzanna Lindsey-Temple reviewed gene: CCBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25925991, 26686525, 19935664, 23653581, 19911200; Phenotypes: OMIM#235510: Hennekam Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 CFTR Suzanna Lindsey-Temple reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 RSPH1 Suzanna Lindsey-Temple reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24518672, 24568568; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAAF2 Suzanna Lindsey-Temple reviewed gene: DNAAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAAF1 Suzanna Lindsey-Temple reviewed gene: DNAAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 RSPH9 Suzanna Lindsey-Temple reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19200523, 23993197; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 RSPH4A Suzanna Lindsey-Temple reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28939216, 24824133; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 CCDC40 Suzanna Lindsey-Temple reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 CCDC39 Suzanna Lindsey-Temple reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAH11 Suzanna Lindsey-Temple reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAI2 Suzanna Lindsey-Temple reviewed gene: DNAI2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: None
Interstitial Lung Disease v0.183 DNAL1 Suzanna Lindsey-Temple reviewed gene: DNAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAI1 Suzanna Lindsey-Temple reviewed gene: DNAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21143860, 28939216; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 DNAH5 Suzanna Lindsey-Temple reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33242470; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 FOXF1 Suzanna Lindsey-Temple reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.183 STRA6 Suzanna Lindsey-Temple reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.183 ENG Suzanna Lindsey-Temple reviewed gene: ENG: Rating: ; Mode of pathogenicity: None; Publications: PMID: 27587546; Phenotypes: Paediatric PAH; Mode of inheritance: None
Interstitial Lung Disease v0.183 Zornitza Stark removed gene:ZNHIT3 from the panel
Interstitial Lung Disease v0.182 Zornitza Stark removed gene:TTF1 from the panel
Interstitial Lung Disease v0.181 Zornitza Stark removed gene:TCF21 from the panel
Interstitial Lung Disease v0.180 Zornitza Stark removed gene:MUC5B from the panel
Interstitial Lung Disease v0.179 Zornitza Stark removed gene:BDNF from the panel
Interstitial Lung Disease v0.178 Zornitza Stark removed gene:TERT from the panel
Interstitial Lung Disease v0.177 Zornitza Stark removed gene:TERC from the panel
Interstitial Lung Disease v0.176 Zornitza Stark removed gene:SERPINA1 from the panel
Interstitial Lung Disease v0.175 Zornitza Stark removed gene:SCNN1G from the panel
Interstitial Lung Disease v0.174 Zornitza Stark removed gene:RTEL1 from the panel
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.36 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Pulmonary Fibrosis_Interstitial Lung Disease v0.35 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.34 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.33 RTEL1 Zornitza Stark reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25848748, 25607374, 23959892; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.173 ZNHIT3 Suzanna Lindsey-Temple reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.173 Zornitza Stark removed gene:TSC2 from the panel
Interstitial Lung Disease v0.172 TTF1 Suzanna Lindsey-Temple reviewed gene: TTF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.172 Zornitza Stark removed gene:TSC1 from the panel
Interstitial Lung Disease v0.171 Zornitza Stark removed gene:PTPN11 from the panel
Interstitial Lung Disease v0.170 Zornitza Stark removed gene:PARN from the panel
Interstitial Lung Disease v0.169 Zornitza Stark removed gene:HPS5 from the panel
Interstitial Lung Disease v0.168 Zornitza Stark removed gene:HPS3 from the panel
Interstitial Lung Disease v0.167 TCF21 Suzanna Lindsey-Temple reviewed gene: TCF21: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.167 Zornitza Stark removed gene:FRAS1 from the panel
Interstitial Lung Disease v0.166 MUC5B Suzanna Lindsey-Temple reviewed gene: MUC5B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.166 Zornitza Stark removed gene:FLT4 from the panel
Interstitial Lung Disease v0.165 Zornitza Stark removed gene:FLCN from the panel
Interstitial Lung Disease v0.164 BDNF Suzanna Lindsey-Temple reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.164 Zornitza Stark removed gene:ELMOD2 from the panel
Interstitial Lung Disease v0.163 Zornitza Stark removed gene:DTNBP1 from the panel
Interstitial Lung Disease v0.162 Zornitza Stark removed gene:DSPP from the panel
Interstitial Lung Disease v0.161 TERT Suzanna Lindsey-Temple reviewed gene: TERT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 TERC Suzanna Lindsey-Temple reviewed gene: TERC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 SERPINA1 Suzanna Lindsey-Temple reviewed gene: SERPINA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 SCNN1G Suzanna Lindsey-Temple reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 RTEL1 Suzanna Lindsey-Temple reviewed gene: RTEL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 TSC2 Suzanna Lindsey-Temple reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 TSC1 Suzanna Lindsey-Temple reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 PTPN11 Suzanna Lindsey-Temple reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 PARN Suzanna Lindsey-Temple reviewed gene: PARN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 HPS5 Suzanna Lindsey-Temple reviewed gene: HPS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 HPS3 Suzanna Lindsey-Temple reviewed gene: HPS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 FRAS1 Suzanna Lindsey-Temple reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 FLT4 Suzanna Lindsey-Temple reviewed gene: FLT4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 FLCN Suzanna Lindsey-Temple reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 ELMOD2 Suzanna Lindsey-Temple reviewed gene: ELMOD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 DTNBP1 Suzanna Lindsey-Temple reviewed gene: DTNBP1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28259707, 12923531, 23364359; Phenotypes: HPS; Mode of inheritance: None
Interstitial Lung Disease v0.161 DSPP Suzanna Lindsey-Temple reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.161 Zornitza Stark removed gene:DKC1 from the panel
Interstitial Lung Disease v0.160 Zornitza Stark removed gene:COL18A1 from the panel
Interstitial Lung Disease v0.159 TBX4 Zornitza Stark Publications for gene: TBX4 were set to 31761294; 31965066
Interstitial Lung Disease v0.158 Zornitza Stark removed gene:TBX2 from the panel
Interstitial Lung Disease v0.157 SMAD9 Zornitza Stark Publications for gene: SMAD9 were set to 29844917; 21920918; 19211612
Interstitial Lung Disease v0.156 Zornitza Stark removed gene:SFTPD from the panel
Interstitial Lung Disease v0.155 Zornitza Stark removed gene:SFTPA2 from the panel
Interstitial Lung Disease v0.154 DKC1 Suzanna Lindsey-Temple reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.154 COL18A1 Suzanna Lindsey-Temple reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.154 SFTPA1 Suzanna Lindsey-Temple reviewed gene: SFTPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.137 QRICH1 Zornitza Stark Mode of inheritance for gene: QRICH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.136 QRICH1 Zornitza Stark Classified gene: QRICH1 as Amber List (moderate evidence)
Fetal anomalies v0.136 QRICH1 Zornitza Stark Gene: qrich1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.135 QRICH1 Zornitza Stark changed review comment from: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.; to: Eight unrelated individuals reported with expressive speech delay, moderate motor delay, learning difficulties/ mild ID, mild microcephaly, short stature and notable social behaviour deficits as clinical hallmarks. One individual reported with nephroblastoma.

IUGR rarely reported. Other features are unlikely to be detectable perinatally.
Fetal anomalies v0.135 QRICH1 Zornitza Stark edited their review of gene: QRICH1: Changed rating: AMBER
Interstitial Lung Disease v0.154 TBX4 Suzanna Lindsey-Temple reviewed gene: TBX4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29631995, 23592887, 30578383; Phenotypes: Childhood-onset PAH, pulmonary hypoplasia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v0.135 FAM111A Zornitza Stark Marked gene: FAM111A as ready
Fetal anomalies v0.135 FAM111A Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence).
Fetal anomalies v0.135 FAM111A Zornitza Stark Phenotypes for gene: FAM111A were changed from KENNY-CAFFEY SYNDROME to Kenny-Caffey syndrome, type 2, MIM# 127000
Fetal anomalies v0.134 FAM111A Zornitza Stark Publications for gene: FAM111A were set to
Fetal anomalies v0.133 FAM111A Zornitza Stark Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.132 FAM111A Zornitza Stark changed review comment from: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia.
Sources: Literature; to: Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities including microphthalmia/nanophthalmos, and transient hypocalcemia. Prenatal presentation reported.
Sources: Literature
Fetal anomalies v0.132 FAM111A Zornitza Stark edited their review of gene: FAM111A: Changed publications: 32996714, 23684011, 33750016; Changed phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Gene: csf1r has been classified as Amber List (Moderate Evidence).
Regression v0.384 CSF1R Zornitza Stark Marked gene: CSF1R as ready
Regression v0.384 CSF1R Zornitza Stark Gene: csf1r has been classified as Green List (High Evidence).
Regression v0.384 CSF1R Zornitza Stark Phenotypes for gene: CSF1R were changed from to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Classified gene: CSF1R as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4255 CSF1R Zornitza Stark Gene: csf1r has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4254 CSF1R Zornitza Stark gene: CSF1R was added
gene: CSF1R was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982609; 33749994; 34135456
Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS
Review for gene: CSF1R was set to AMBER
Added comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.

Four unrelated families reported.

Note mono-allelic variants cause an adult-onset disorder.
Sources: Literature
Regression v0.383 CSF1R Zornitza Stark Publications for gene: CSF1R were set to
Regression v0.382 CSF1R Zornitza Stark Mode of inheritance for gene: CSF1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.381 CSF1R Zornitza Stark reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982609, 33749994, 34135456; Phenotypes: Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476, BANDDOS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.154 TBX2 Suzanna Lindsey-Temple reviewed gene: TBX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Marked gene: RNPC3 as ready
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Classified gene: RNPC3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4253 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4252 RNPC3 Zornitza Stark gene: RNPC3 was added
gene: RNPC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 29866761; 32462814; 33650182
Phenotypes for gene: RNPC3 were set to Growth hormone deficiency; Intellectual disability
Review for gene: RNPC3 was set to AMBER
Added comment: Three families reported, ID in two.
Sources: Literature
Growth failure v1.16 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Growth failure v1.15 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 32462814; 29866761; 24480542
Growth failure v1.14 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Growth failure v1.14 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Growth failure v1.13 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Pituitary hormone deficiency v0.23 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Pituitary hormone deficiency v0.22 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 29866761; 32462814
Pituitary hormone deficiency v0.21 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Pituitary hormone deficiency v0.21 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.20 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Mendeliome v0.9610 RNPC3 Zornitza Stark Phenotypes for gene: RNPC3 were changed from Growth hormone deficiency to Growth hormone deficiency; Intellectual disability
Mendeliome v0.9609 RNPC3 Zornitza Stark Publications for gene: RNPC3 were set to 29866761; 32462814
Mendeliome v0.9608 RNPC3 Zornitza Stark Classified gene: RNPC3 as Green List (high evidence)
Mendeliome v0.9608 RNPC3 Zornitza Stark Gene: rnpc3 has been classified as Green List (High Evidence).
Mendeliome v0.9607 RNPC3 Zornitza Stark edited their review of gene: RNPC3: Added comment: PMID 33650182: third individual reported with growth failure and ID.; Changed rating: GREEN; Changed publications: 29866761, 32462814, 33650182; Changed phenotypes: Growth hormone deficiency, Intellectual disability
Intellectual disability syndromic and non-syndromic v0.4251 KCNQ2 Zornitza Stark Marked gene: KCNQ2 as ready
Intellectual disability syndromic and non-syndromic v0.4251 KCNQ2 Zornitza Stark Gene: kcnq2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4251 KCNQ2 Zornitza Stark Phenotypes for gene: KCNQ2 were changed from to Developmental and epileptic encephalopathy 7, MIM# 613720; Intellectual disability
Intellectual disability syndromic and non-syndromic v0.4250 KCNQ2 Zornitza Stark Publications for gene: KCNQ2 were set to
Intellectual disability syndromic and non-syndromic v0.4249 KCNQ2 Zornitza Stark Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4248 KCNQ2 Zornitza Stark reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33659638, 33754465; Phenotypes: Developmental and epileptic encephalopathy 7, MIM# 613720, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.132 BICD2 Zornitza Stark Marked gene: BICD2 as ready
Fetal anomalies v0.132 BICD2 Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.132 BICD2 Zornitza Stark Phenotypes for gene: BICD2 were changed from reduced fetal movements; PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); hydrops fetalis; Pterygium to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291
Fetal anomalies v0.131 BICD2 Zornitza Stark Publications for gene: BICD2 were set to 27751653; 30054298; 29274205; 28635954
Fetal anomalies v0.130 BICD2 Zornitza Stark Deleted their comment
Fetal anomalies v0.130 BICD2 Zornitza Stark edited their review of gene: BICD2: Added comment: Prenatal presentations reported.; Changed rating: GREEN; Changed publications: 33547725
Interstitial Lung Disease v0.154 SMAD9 Suzanna Lindsey-Temple reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21898662; Phenotypes: Childhood PAH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Heterotaxy v1.10 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Heterotaxy v1.10 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Heterotaxy v1.10 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Heterotaxy. Sources: Literature
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC21B were set to 33547761
Phenotypes for gene: TTC21B were set to Heterotaxy
Review for gene: TTC21B was set to RED
Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies.

Single family reported with two sibs, heterotaxy, and bi-allelic variants in this gene. One sib has additional ciliopathy features.
Sources: Literature
Differences of Sex Development v0.217 COG6 Zornitza Stark Marked gene: COG6 as ready
Differences of Sex Development v0.217 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.217 COG6 Zornitza Stark Classified gene: COG6 as Amber List (moderate evidence)
Differences of Sex Development v0.217 COG6 Zornitza Stark Gene: cog6 has been classified as Amber List (Moderate Evidence).
Differences of Sex Development v0.216 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Differences of Sex Development. Sources: Literature
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG6 were set to 33394555; 32683677
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, MIM# 614576
Review for gene: COG6 was set to AMBER
Added comment: <20 families reported with this type of CDG; two families with multi-system features including significant DSD.
Sources: Literature
Interstitial Lung Disease v0.154 SFTPD Suzanna Lindsey-Temple reviewed gene: SFTPD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9607 COG6 Zornitza Stark changed review comment from: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferring isoforms recorded creating confusion about whether it represents a distinct entity.; to: More than 5 unrelated families reported. Key features include growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. Ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies are prominent. Note Shaheen syndrome, MIM#615328 is an allelic disorder, with overlapping clinical features, but normal transferrin isoforms recorded creating confusion about whether it represents a distinct entity.
Interstitial Lung Disease v0.154 SFTPC Suzanna Lindsey-Temple reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4248 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to Intellectual disability; Epilepsy
Intellectual disability syndromic and non-syndromic v0.4247 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to PMID: 31997314; 29395075; 29395074
Interstitial Lung Disease v0.154 SFTPB Suzanna Lindsey-Temple reviewed gene: SFTPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4246 OTUD7A Zornitza Stark Classified gene: OTUD7A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4246 OTUD7A Zornitza Stark Gene: otud7a has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4245 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Added comment: Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.; Changed rating: AMBER; Changed publications: 31997314, 29395075, 29395074, 33381903; Changed phenotypes: Intellectual disability, Epilepsy
Genetic Epilepsy v0.1377 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, no OMIM# yet to Intellectual disability; Epilepsy
Genetic Epilepsy v0.1376 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to PMID: 31997314
Genetic Epilepsy v0.1375 OTUD7A Zornitza Stark Classified gene: OTUD7A as Amber List (moderate evidence)
Genetic Epilepsy v0.1375 OTUD7A Zornitza Stark Gene: otud7a has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1374 OTUD7A Zornitza Stark reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31997314, 29395075, 29395074, 33381903; Phenotypes: Intellectual disability, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.154 SFTPA2 Suzanna Lindsey-Temple reviewed gene: SFTPA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9607 OTUD7A Zornitza Stark Phenotypes for gene: OTUD7A were changed from Epileptic encephalopathy, intellectual disability, no OMIM# yet to Intellectual disability; Epilepsy
Mendeliome v0.9606 OTUD7A Zornitza Stark Publications for gene: OTUD7A were set to 31997314; 29395075; 29395074
Mendeliome v0.9605 OTUD7A Zornitza Stark Classified gene: OTUD7A as Amber List (moderate evidence)
Mendeliome v0.9605 OTUD7A Zornitza Stark Gene: otud7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9604 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Changed phenotypes: Intellectual disability, Epilepsy
Mendeliome v0.9604 OTUD7A Zornitza Stark edited their review of gene: OTUD7A: Added comment: Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.; Changed rating: AMBER; Changed publications: 31997314, 29395075, 29395074, 33381903
Microcephaly v1.67 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Microcephaly v1.67 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.67 NUP85 Zornitza Stark Classified gene: NUP85 as Amber List (moderate evidence)
Microcephaly v1.67 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.66 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 34170319
Phenotypes for gene: NUP85 were set to Primary microcephaly
Review for gene: NUP85 was set to AMBER
Added comment: Bi-allelic variants in this gene are associated with nephrotic syndrome in 3 families.

Phenotypic expansion:
PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4245 NUP85 Zornitza Stark Classified gene: NUP85 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4245 NUP85 Zornitza Stark Gene: nup85 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4244 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 34170319; 30179222
Phenotypes for gene: NUP85 were set to Intellectual disability
Review for gene: NUP85 was set to AMBER
Added comment: Bi-allelic variants in this gene are associated with nephrotic syndrome in 3 families.

Phenotype expansion:

PMID: 34170319 - Ravindran et al 2021 report two pedigrees with an MCPH-SCKS phenotype spectrum without SRNS. In the first family, a 9 yo female, with consanguineous parents, is reported to have a missense variant in NUP85 (c.932G > A; p.R311Q). Intrauterine growth restriction was noticed. At birth microcephaly was observed (OFC < 3rd centile, < −3.6 SD) as well as hypotrophy [weight −2.8 SD), length 45 cm (−2.7 SD), both <3rd centile], facial dysmorphism, syndactyly, long and thin fingers, and bilateral pes adductus. She has severe developmental delay with strongly delayed motor milestones and absent speech. Drug-resistant, genetic epilepsy with focal-onset seizures started in the first year of life. She had no clinical, laboratory or radiological findings indicative of kidney dysfunction. In the second family, compound heterozygous missense variants in NUP85 were detected (c.1109A > G, c.1589 T > C;p.N370S, p.M530T ) in a fetus. MRI of the fetal brain at 24 + 2 GW indicated complete agenesis of the corpus callosum, abnormal sulcation in the left frontal lobe, nodularity of the frontal horn and trigone with focal puckering of the left lateral ventricle.

PMID: 30179222 - Braun et al 2018 - 2 individuals from 1 of the families reported with steroid-resistant nephrotic syndrome were also reported to have intellectual disability but showed no structural brain defects. The degree of intellectual disability is not stated. They were found to have 2 compound heterozygous alleles (c.405+1G>A and c.1741G>C, p.Ala581Pro) in NUP85.
Sources: Literature
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark Marked gene: GNB2 as ready
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark Gene: gnb2 has been classified as Red List (Low Evidence).
Vascular Malformations_Somatic v1.7 GNB2 Zornitza Stark gene: GNB2 was added
gene: GNB2 was added to Vascular Malformations_Somatic. Sources: Literature
somatic tags were added to gene: GNB2.
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 34124757
Phenotypes for gene: GNB2 were set to Sturge-Weber syndrome, somatic, mosaic
Mode of pathogenicity for gene: GNB2 was set to Other
Review for gene: GNB2 was set to RED
Added comment: PMID: 34124757 Fjaer et al 2021 report 1 case of a patient with phenotypic features of Sturge–Weber syndrome (skin legion on left eyelid, nose and brow, mild intellectual disability, refractory eplipsy, left-sided leptomeningeal vascular malformation and atrophy, no eye abnormality) and a variant in GNB2 (NM_005273.3):c.232A>G:p.Lys78Glu, which was present in 6% of the reads from the lesional dermis and 21% of the reads in an endothelial culture from the biopsy, but only present at 0.15% of the reads in non-lesional dermis. The patient was negative for the GNAQ R183Q variant more frequently associated with Sturge–Weber syndrome.
Sources: Literature
Mendeliome v0.9604 GNAQ Zornitza Stark Tag somatic tag was added to gene: GNAQ.
Mendeliome v0.9604 GNAQ Zornitza Stark Marked gene: GNAQ as ready
Mendeliome v0.9604 GNAQ Zornitza Stark Gene: gnaq has been classified as Green List (High Evidence).
Mendeliome v0.9604 GNAQ Zornitza Stark Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic 185300; Capillary malformations, congenital, 1, somatic, mosaic 163000; Phacomatosis pigmentovascularis
Mendeliome v0.9603 GNAQ Zornitza Stark Publications for gene: GNAQ were set to
Mendeliome v0.9602 GNAQ Zornitza Stark Mode of pathogenicity for gene: GNAQ was changed from to Other
Mendeliome v0.9601 GNAQ Zornitza Stark Mode of inheritance for gene: GNAQ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9600 GNAQ Zornitza Stark reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30920161; Phenotypes: Sturge-Weber syndrome, somatic, mosaic 185300, Capillary malformations, congenital, 1, somatic, mosaic 163000, Phacomatosis pigmentovascularis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v1.0 Zornitza Stark promoted panel to version 1.0
Severe early-onset obesity v0.94 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Marked gene: WDPCP as ready
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Gene: wdpcp has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.93 WDPCP Zornitza Stark Phenotypes for gene: WDPCP were changed from Congenital Obesity to Bardet-Biedl syndrome 15, MIM# 615992
Severe early-onset obesity v0.92 WDPCP Zornitza Stark Publications for gene: WDPCP were set to 26518167
Severe early-onset obesity v0.91 WDPCP Zornitza Stark Mode of inheritance for gene: WDPCP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Marked gene: TRIM32 as ready
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Gene: trim32 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.90 TRIM32 Zornitza Stark Phenotypes for gene: TRIM32 were changed from ?Bardet-Biedl syndrome 11; 615988 to Bardet-Biedl syndrome 11, MIM# 615988
Severe early-onset obesity v0.89 TRIM32 Zornitza Stark Publications for gene: TRIM32 were set to
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Marked gene: MRAP2 as ready
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Gene: mrap2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.88 MRAP2 Zornitza Stark Phenotypes for gene: MRAP2 were changed from Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18} to Susceptibility to obesity, MIM#615457
Severe early-onset obesity v0.87 MRAP2 Zornitza Stark Publications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. "In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations." "We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data."; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.86 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991 to Bardet-Biedl syndrome 14, MIM# 615991
Severe early-onset obesity v0.85 CEP290 Zornitza Stark Classified gene: CEP290 as Green List (high evidence)
Severe early-onset obesity v0.85 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.84 PPARG Zornitza Stark Marked gene: PPARG as ready
Severe early-onset obesity v0.84 PPARG Zornitza Stark Gene: pparg has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.84 PPARG Zornitza Stark Phenotypes for gene: PPARG were changed from [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338 to Obesity, severe, MIM#601665
Severe early-onset obesity v0.83 PPARG Zornitza Stark Publications for gene: PPARG were set to
Severe early-onset obesity v0.82 PPARG Zornitza Stark Mode of inheritance for gene: PPARG was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Marked gene: NR0B2 as ready
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.81 NR0B2 Zornitza Stark Phenotypes for gene: NR0B2 were changed from Congenital Obesity; Obesity, mild, early-onset, 601665 to Obesity, mild, early-onset MIM#601665
Severe early-onset obesity v0.80 NR0B2 Zornitza Stark Publications for gene: NR0B2 were set to
Severe early-onset obesity v0.79 NR0B2 Zornitza Stark Mode of inheritance for gene: NR0B2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Marked gene: MAGEL2 as ready
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.78 MAGEL2 Zornitza Stark Phenotypes for gene: MAGEL2 were changed from Congenital Obesity to Schaaf-Yang syndrome, MIM# 615547; Obesity
Severe early-onset obesity v0.77 MAGEL2 Zornitza Stark Publications for gene: MAGEL2 were set to
Severe early-onset obesity v0.76 MAGEL2 Zornitza Stark Mode of inheritance for gene: MAGEL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Severe early-onset obesity v0.75 MAGEL2 Zornitza Stark Classified gene: MAGEL2 as Green List (high evidence)
Severe early-onset obesity v0.75 MAGEL2 Zornitza Stark Gene: magel2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.74 PPARG Daniel Flanagan reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9425261, 9753710; Phenotypes: Obesity, severe, MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 11136233, 15459958; Phenotypes: Obesity, mild, early-onset MIM#601665; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 MRAP2 Daniel Flanagan reviewed gene: MRAP2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan Deleted their review
Severe early-onset obesity v0.74 NR0B2 Daniel Flanagan reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 23869016, 31700171, 27474872, 26795956; Phenotypes: Susceptibility to obesity, MIM#615457; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.130 AMPD2 Zornitza Stark Marked gene: AMPD2 as ready
Fetal anomalies v0.130 AMPD2 Zornitza Stark Gene: ampd2 has been classified as Green List (High Evidence).
Fetal anomalies v0.130 AMPD2 Zornitza Stark Phenotypes for gene: AMPD2 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 9, MIM#615809
Fetal anomalies v0.129 AMPD2 Zornitza Stark Publications for gene: AMPD2 were set to
Mendeliome v0.9600 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Mendeliome v0.9600 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.9600 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM# 614279; Obesity
Mendeliome v0.9599 AKR1C2 Zornitza Stark Publications for gene: AKR1C2 were set to
Mendeliome v0.9598 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9597 AKR1C2 Zornitza Stark Classified gene: AKR1C2 as Red List (low evidence)
Mendeliome v0.9597 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Mendeliome v0.9596 AKR1C2 Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: 21802064, 25322899, 33675863; Phenotypes: 46XY sex reversal 8, MIM# 614279, Obesity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Marked gene: AKR1C2 as ready
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.74 AKR1C2 Zornitza Stark Phenotypes for gene: AKR1C2 were changed from Obesity, hyperphagia, and developmental delay to Obesity
Severe early-onset obesity v0.73 AKR1C2 Zornitza Stark Publications for gene: AKR1C2 were set to
Severe early-onset obesity v0.72 AKR1C2 Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from to Unknown
Severe early-onset obesity v0.71 MAGEL2 Daniel Flanagan reviewed gene: MAGEL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30238631, 24076603, 27195816; Phenotypes: Obesity, Excessive weight gain; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Severe early-onset obesity v0.71 AKR1C2 Daniel Flanagan reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33675863, 25322899; Phenotypes: Obesity; Mode of inheritance: Unknown
Mendeliome v0.9596 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Mendeliome v0.9596 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Mendeliome v0.9596 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from to Osteopathia striata with cranial sclerosis, MIM# 300373
Mendeliome v0.9595 AMER1 Zornitza Stark Publications for gene: AMER1 were set to
Mendeliome v0.9594 AMER1 Zornitza Stark Mode of inheritance for gene: AMER1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9593 AMER1 Zornitza Stark reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.128 AMER1 Zornitza Stark Marked gene: AMER1 as ready
Fetal anomalies v0.128 AMER1 Zornitza Stark Gene: amer1 has been classified as Green List (High Evidence).
Fetal anomalies v0.128 AMER1 Zornitza Stark Phenotypes for gene: AMER1 were changed from OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS to Osteopathia striata with cranial sclerosis, MIM# 300373
Fetal anomalies v0.127 AMER1 Zornitza Stark Publications for gene: AMER1 were set to 28425981
Fetal anomalies v0.126 AMER1 Zornitza Stark reviewed gene: AMER1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20209645, 19079258; Phenotypes: Osteopathia striata with cranial sclerosis, MIM# 300373; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v0.126 ALX4 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Bi-allelic variants are associated with FND and mono-allelic variants are associated with parietal foramina.
Fetal anomalies v0.126 ALX4 Zornitza Stark edited their review of gene: ALX4: Changed phenotypes: Frontonasal dysplasia 2, MIM# 613451, Parietal foramina 2, MIM# 609597
Fetal anomalies v0.126 ALX4 Zornitza Stark Marked gene: ALX4 as ready
Fetal anomalies v0.126 ALX4 Zornitza Stark Gene: alx4 has been classified as Green List (High Evidence).
Fetal anomalies v0.126 ALX4 Zornitza Stark Phenotypes for gene: ALX4 were changed from FRONTONASAL DYSPLASIA 2; PARIETAL FORAMINA 2 to Frontonasal dysplasia 2, MIM# 613451; Parietal foramina 2, MIM# 609597
Fetal anomalies v0.125 ALX4 Zornitza Stark Publications for gene: ALX4 were set to
Fetal anomalies v0.124 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.123 ALX4 Zornitza Stark Mode of inheritance for gene: ALX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.122 ALX4 Zornitza Stark changed review comment from: Majority of affected individuals have normal intelligence.; to: Well established gene-disease association.
Fetal anomalies v0.122 ALX4 Zornitza Stark edited their review of gene: ALX4: Changed rating: GREEN
Fetal anomalies v0.122 ALX3 Zornitza Stark Marked gene: ALX3 as ready
Fetal anomalies v0.122 ALX3 Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence).
Fetal anomalies v0.122 ALX3 Zornitza Stark Phenotypes for gene: ALX3 were changed from FRONTONASAL DYSPLASIA TYPE 1 to Frontonasal dysplasia 1, MIM#136760
Fetal anomalies v0.121 ALX3 Zornitza Stark Publications for gene: ALX3 were set to
Fetal anomalies v0.120 ALX3 Zornitza Stark changed review comment from: Majority have normal intellectual function, demote to Amber.; to: Well established gene-disease association.
Fetal anomalies v0.120 ALX3 Zornitza Stark Deleted their comment
Fetal anomalies v0.120 ALX3 Zornitza Stark edited their review of gene: ALX3: Changed rating: GREEN
Fetal anomalies v0.120 ALX1 Zornitza Stark Marked gene: ALX1 as ready
Fetal anomalies v0.120 ALX1 Zornitza Stark Gene: alx1 has been classified as Green List (High Evidence).
Fetal anomalies v0.120 ALX1 Zornitza Stark Phenotypes for gene: ALX1 were changed from FRONTONASAL DYSPLASIA TYPE 3 to Frontonasal dysplasia 3, MIM#613456
Fetal anomalies v0.119 ALX1 Zornitza Stark Publications for gene: ALX1 were set to
Fetal anomalies v0.118 ALX1 Zornitza Stark changed review comment from: Two families reported with balletic variants in this gene and frontonasal dysplasia. Unclear whether intellectual disability is truly part of the phenotype or whether intellectual ability difficult to assess in presence of severe craniofacial abnormality.; to: Two families reported with balletic variants in this gene and frontonasal dysplasia, supportive animal models.
Fetal anomalies v0.118 ALX1 Zornitza Stark edited their review of gene: ALX1: Changed rating: GREEN
Fetal anomalies v0.118 KMT5B Zornitza Stark Marked gene: KMT5B as ready
Fetal anomalies v0.118 KMT5B Zornitza Stark Gene: kmt5b has been classified as Red List (Low Evidence).
Fetal anomalies v0.118 KMT5B Zornitza Stark Phenotypes for gene: KMT5B were changed from KMT5B syndrome to Mental retardation, autosomal dominant 51, MIM#617788
Fetal anomalies v0.117 KMT5B Zornitza Stark Publications for gene: KMT5B were set to
Fetal anomalies v0.116 KMT5B Zornitza Stark Mode of inheritance for gene: KMT5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.115 KMT5B Zornitza Stark changed review comment from: Multiple affected individuals from unrelated families.
Sources: Expert list; to: Multiple affected individuals from unrelated families. Predominantly presents with ID/autism, multiple congenital anomalies are not typically present.
Sources: Expert list
Fetal anomalies v0.115 KMT5B Zornitza Stark edited their review of gene: KMT5B: Changed rating: RED
Intellectual disability syndromic and non-syndromic v0.4243 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Intellectual disability syndromic and non-syndromic v0.4243 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.115 ALPL Zornitza Stark Marked gene: ALPL as ready
Fetal anomalies v0.115 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Fetal anomalies v0.115 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from HYPOPHOSPHATASIA to Hypophosphatasia, infantile MIM# 241500
Fetal anomalies v0.114 ALPL Zornitza Stark Publications for gene: ALPL were set to
Fetal anomalies v0.113 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.112 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Fetal anomalies v0.112 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Fetal anomalies v0.112 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from ALSTROM SYNDROME to Alstrom syndrome, MIM# 203800
Fetal anomalies v0.111 ALMS1 Zornitza Stark changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism.

Congenital anomalies are a rare feature.
Fetal anomalies v0.111 ALG8 Zornitza Stark Marked gene: ALG8 as ready
Fetal anomalies v0.111 ALG8 Zornitza Stark Gene: alg8 has been classified as Green List (High Evidence).
Fetal anomalies v0.111 ALG8 Zornitza Stark Phenotypes for gene: ALG8 were changed from ALG8-CDG to Congenital disorder of glycosylation, type Ih, MIM# 608104
Fetal anomalies v0.110 ALG8 Zornitza Stark Publications for gene: ALG8 were set to
Fetal anomalies v0.109 ALG6 Zornitza Stark Marked gene: ALG6 as ready
Fetal anomalies v0.109 ALG6 Zornitza Stark Gene: alg6 has been classified as Green List (High Evidence).
Fetal anomalies v0.109 ALG6 Zornitza Stark Phenotypes for gene: ALG6 were changed from ALG6-CDG to Congenital disorder of glycosylation, type Ic (MIM#603147)
Fetal anomalies v0.108 ALG6 Zornitza Stark Publications for gene: ALG6 were set to
Fetal anomalies v0.107 ALG6 Zornitza Stark changed review comment from: Over 100 affected individuals reported.

PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.; to: Over 100 affected individuals reported. Mostly neurological features, though rare congenital anomalies such as missing phalanges reported.

PMID 27498540 summarises findings in 41 patients. Hypotonia and developmental delay were reported in all. Other common features include epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive. Nine patients developed intractable seizures. Coagulation anomalies were present in <50 % of cases, without spontaneous bleedings. Facial dysmorphism was rare, but seven patients showed missing phalanges and brachydactyly. Cyclic behavioral change, with autistic features and depressive episodes. Eleven children died before the age of 4 years due to protein losing enteropathy (PLE), sepsis, or seizures. The oldest patient was a 40 year-old. The most common pathogenic protein alterations were p.A333V and p.I299Del, without any clear genotype-phenotype correlation.
Fetal anomalies v0.107 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Fetal anomalies v0.107 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Fetal anomalies v0.107 ALG3 Zornitza Stark Phenotypes for gene: ALG3 were changed from ALG3-CDG to Congenital disorder of glycosylation, type Id, MIM# 601110
Fetal anomalies v0.106 ALG12 Zornitza Stark Marked gene: ALG12 as ready
Fetal anomalies v0.106 ALG12 Zornitza Stark Gene: alg12 has been classified as Green List (High Evidence).
Fetal anomalies v0.106 ALG12 Zornitza Stark Phenotypes for gene: ALG12 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G to Congenital disorder of glycosylation, type Ig, MIM# 607143
Fetal anomalies v0.105 ALG12 Zornitza Stark Publications for gene: ALG12 were set to
Fetal anomalies v0.104 ALG12 Zornitza Stark changed review comment from: Two individuals reported as part of a CDH cohort.
Sources: Literature; to: Multiple congenital anomalies, including cardiac, skeletal, CDH reported.
Sources: Literature
Fetal anomalies v0.104 ALG12 Zornitza Stark edited their review of gene: ALG12: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v0.4243 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540
Intellectual disability syndromic and non-syndromic v0.4242 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Intellectual disability syndromic and non-syndromic v0.4241 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4240 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1374 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Genetic Epilepsy v0.1374 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1374 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540
Genetic Epilepsy v0.1373 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Genetic Epilepsy v0.1372 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1371 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9593 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Mendeliome v0.9593 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Mendeliome v0.9593 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from to Congenital disorder of glycosylation, type Ik, MIM# 608540
Mendeliome v0.9592 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Mendeliome v0.9591 ALG1 Zornitza Stark Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9590 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26931382; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.104 ALG1 Zornitza Stark Marked gene: ALG1 as ready
Fetal anomalies v0.104 ALG1 Zornitza Stark Gene: alg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.104 ALG1 Zornitza Stark Phenotypes for gene: ALG1 were changed from ALG1-CDG to Congenital disorder of glycosylation, type Ik, MIM# 608540
Fetal anomalies v0.103 ALG1 Zornitza Stark Publications for gene: ALG1 were set to
Fetal anomalies v0.102 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM# 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.101 ADAR Zornitza Stark Marked gene: ADAR as ready
Fetal anomalies v0.101 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Fetal anomalies v0.101 ADAR Zornitza Stark Phenotypes for gene: ADAR were changed from AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 to Aicardi-Goutieres syndrome 6, MIM# 615010
Fetal anomalies v0.100 ADAR Zornitza Stark Classified gene: ADAR as Red List (low evidence)
Fetal anomalies v0.100 ADAR Zornitza Stark Gene: adar has been classified as Red List (Low Evidence).
Fetal anomalies v0.99 ADAR Zornitza Stark reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, MIM# 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.99 ALDOA Zornitza Stark Marked gene: ALDOA as ready
Fetal anomalies v0.99 ALDOA Zornitza Stark Gene: aldoa has been classified as Red List (Low Evidence).
Fetal anomalies v0.99 ALDOA Zornitza Stark Phenotypes for gene: ALDOA were changed from GLYCOGEN STORAGE DISEASE XII to Glycogen storage disease XII, MIM#611881
Fetal anomalies v0.98 ALDOA Zornitza Stark Classified gene: ALDOA as Red List (low evidence)
Fetal anomalies v0.98 ALDOA Zornitza Stark Gene: aldoa has been classified as Red List (Low Evidence).
Fetal anomalies v0.97 ALDOA Zornitza Stark changed review comment from: Only some patients have been reported to have developmental delay; some of these reports pre-date molecular characterisation of this disorder and therefore a firm link with ID is difficult to establish.; to: Typically presents with haemolytic anaemia post-natally.
Fetal anomalies v0.97 ALDOA Zornitza Stark edited their review of gene: ALDOA: Changed rating: RED
Fetal anomalies v0.97 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Fetal anomalies v0.97 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.97 ALDH7A1 Zornitza Stark Phenotypes for gene: ALDH7A1 were changed from PYRIDOXINE-DEPENDENT EPILEPSY to Epilepsy, pyridoxine-dependent, MIM# 266100
Fetal anomalies v0.96 ALDH7A1 Zornitza Stark Classified gene: ALDH7A1 as Red List (low evidence)
Fetal anomalies v0.96 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.95 ALDH7A1 Zornitza Stark reviewed gene: ALDH7A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.95 ALDH1A3 Zornitza Stark Marked gene: ALDH1A3 as ready
Fetal anomalies v0.95 ALDH1A3 Zornitza Stark Gene: aldh1a3 has been classified as Green List (High Evidence).
Fetal anomalies v0.95 ALDH1A3 Zornitza Stark Phenotypes for gene: ALDH1A3 were changed from ANOPHTHALMIA/MICROPHTHALMIA to Microphthalmia, isolated 8, MIM# 615113
Fetal anomalies v0.94 ALDH1A3 Zornitza Stark Publications for gene: ALDH1A3 were set to
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Marked gene: ALDH3A2 as ready
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.93 ALDH3A2 Zornitza Stark Phenotypes for gene: ALDH3A2 were changed from SJOEGREN-LARSSON SYNDROME to Sjogren-Larsson syndrome MIM#270200; spasticity; ichthyosis; intellectual disability
Fetal anomalies v0.92 ALDH3A2 Zornitza Stark Publications for gene: ALDH3A2 were set to
Fetal anomalies v0.91 ALDH3A2 Zornitza Stark Classified gene: ALDH3A2 as Red List (low evidence)
Fetal anomalies v0.91 ALDH3A2 Zornitza Stark Gene: aldh3a2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.90 ALDH3A2 Zornitza Stark commented on gene: ALDH3A2: Presentation is typically post-natal with ichthyosis and developmental delay, no significant association with multiple congenital anomalies.
Fetal anomalies v0.90 ALDH3A2 Zornitza Stark edited their review of gene: ALDH3A2: Changed rating: RED
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Marked gene: SMCHD1 as ready
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Gene: smchd1 has been classified as Green List (High Evidence).
Fetal anomalies v0.90 SMCHD1 Zornitza Stark Phenotypes for gene: SMCHD1 were changed from Isolated Arhinia/Bosma Arhinia syndrome to Bosma arhinia microphthalmia syndrome (MIM#603457)
Fetal anomalies v0.89 SMCHD1 Zornitza Stark Publications for gene: SMCHD1 were set to
Mendeliome v0.9590 NUP85 Eleanor Williams reviewed gene: NUP85: Rating: ; Mode of pathogenicity: None; Publications: 34170319; Phenotypes: intellectual disability, Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH–SCKS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9590 GNB2 Eleanor Williams reviewed gene: GNB2: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.9590 GNAQ Eleanor Williams reviewed gene: GNAQ: Rating: ; Mode of pathogenicity: None; Publications: 34124757; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Mode of inheritance: None
Mendeliome v0.9590 TUB Zornitza Stark Marked gene: TUB as ready
Mendeliome v0.9590 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9590 TUB Zornitza Stark Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188
Mendeliome v0.9589 TUB Zornitza Stark Publications for gene: TUB were set to
Mendeliome v0.9588 TUB Zornitza Stark Mode of inheritance for gene: TUB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9587 TUB Zornitza Stark Classified gene: TUB as Amber List (moderate evidence)
Mendeliome v0.9587 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9586 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Syndromic Retinopathy v0.182 TUB Zornitza Stark Marked gene: TUB as ready
Syndromic Retinopathy v0.182 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.182 TUB Zornitza Stark Phenotypes for gene: TUB were changed from to Retinal dystrophy and obesity, MIM# 616188
Syndromic Retinopathy v0.181 TUB Zornitza Stark Publications for gene: TUB were set to
Syndromic Retinopathy v0.180 TUB Zornitza Stark Classified gene: TUB as Amber List (moderate evidence)
Syndromic Retinopathy v0.180 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.179 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: Retinal dystrophy and obesity, MIM# 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.71 TUB Zornitza Stark Marked gene: TUB as ready
Severe early-onset obesity v0.71 TUB Zornitza Stark Gene: tub has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.71 TUB Zornitza Stark Phenotypes for gene: TUB were changed from ?Retinal dystrophy and obesity, OMIM:616188 to Retinal dystrophy and obesity, MIM# 616188
Severe early-onset obesity v0.70 TUB Zornitza Stark reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.70 Zornitza Stark removed gene:SH2B1 from the panel
Severe early-onset obesity v0.69 PHIP Zornitza Stark Marked gene: PHIP as ready
Severe early-onset obesity v0.69 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Severe early-onset obesity v0.69 PHIP Zornitza Stark Phenotypes for gene: PHIP were changed from dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability to Chung-Jansen syndrome 617991
Severe early-onset obesity v0.68 PHIP Zornitza Stark Classified gene: PHIP as Green List (high evidence)
Severe early-onset obesity v0.68 PHIP Zornitza Stark Gene: phip has been classified as Green List (High Evidence).
Severe early-onset obesity v0.67 PGM2L1 Zornitza Stark Phenotypes for gene: PGM2L1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder; obesity
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Marked gene: PGM2L1 as ready
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Classified gene: PGM2L1 as Green List (high evidence)
Severe early-onset obesity v0.66 PGM2L1 Zornitza Stark Gene: pgm2l1 has been classified as Green List (High Evidence).
Mendeliome v0.9586 KSR2 Zornitza Stark Marked gene: KSR2 as ready
Mendeliome v0.9586 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Mendeliome v0.9586 KSR2 Zornitza Stark gene: KSR2 was added
gene: KSR2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KSR2 was set to Other
Publications for gene: KSR2 were set to 29273807; 24209692
Phenotypes for gene: KSR2 were set to Obesity
Review for gene: KSR2 was set to RED
Added comment: PMID: 24209692 Targeted deletion of Ksr2 leads to obesity in mice, suggesting a role in energy homeostasis. PMID: 29273807 GWAS identified KSR2 (13 genes studied) implicated in extreme obesity.
Sources: Expert Review
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Marked gene: KSR2 as ready
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.65 KSR2 Zornitza Stark Mode of inheritance for gene: KSR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Other
Severe early-onset obesity v0.64 KSR2 Zornitza Stark Classified gene: KSR2 as Red List (low evidence)
Severe early-onset obesity v0.64 KSR2 Zornitza Stark Gene: ksr2 has been classified as Red List (Low Evidence).
Severe early-onset obesity v0.63 INPP5E Zornitza Stark Marked gene: INPP5E as ready
Severe early-onset obesity v0.63 INPP5E Zornitza Stark Gene: inpp5e has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.63 INPP5E Zornitza Stark reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.138 DNAH11 Zornitza Stark Marked gene: DNAH11 as ready
Congenital Heart Defect v0.138 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.138 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Congenital heart diseases; heterotaxy to Congenital heart diseases; Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884
Congenital Heart Defect v0.137 DNAH11 Zornitza Stark Publications for gene: DNAH11 were set to PMID: 31040315; 32633470
Congenital Heart Defect v0.136 DNAH11 Zornitza Stark Classified gene: DNAH11 as Green List (high evidence)
Congenital Heart Defect v0.136 DNAH11 Zornitza Stark Gene: dnah11 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.135 DNAH11 Zornitza Stark reviewed gene: DNAH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM# 611884; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.63 CPE Zornitza Stark Phenotypes for gene: CPE were changed from BDV syndrome, MIM# 619326 to BDV syndrome, MIM# 619326; Intellectual developmental disorder and hypogonadotropic hypogonadism
Severe early-onset obesity v0.62 CPE Zornitza Stark Marked gene: CPE as ready
Severe early-onset obesity v0.62 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Severe early-onset obesity v0.62 CPE Zornitza Stark Phenotypes for gene: CPE were changed from Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 to BDV syndrome, MIM# 619326
Severe early-onset obesity v0.61 CPE Zornitza Stark Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766
Severe early-onset obesity v0.60 CPE Zornitza Stark Classified gene: CPE as Green List (high evidence)
Severe early-onset obesity v0.60 CPE Zornitza Stark Gene: cpe has been classified as Green List (High Evidence).
Severe early-onset obesity v0.59 TUB Belinda Chong reviewed gene: TUB: Rating: RED; Mode of pathogenicity: None; Publications: 24375934, 28852204; Phenotypes: ?Retinal dystrophy and obesity 616188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 SH2B1 Belinda Chong reviewed gene: SH2B1: Rating: RED; Mode of pathogenicity: None; Publications: 19079260, 32251290, 33214137; Phenotypes: Chromosome 16p11.2 deletion syndrome, 220kb 613444; Mode of inheritance: None
Severe early-onset obesity v0.59 PHIP Belinda Chong reviewed gene: PHIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 29209020, 27900362, 23033978; Phenotypes: Chung-Jansen syndrome 617991; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.59 PGM2L1 Belinda Chong reviewed gene: PGM2L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33979636; Phenotypes: Neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.59 KSR2 Belinda Chong reviewed gene: KSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24209692, 29273807, 28180061, 24997067; Phenotypes: Obesity; Mode of inheritance: None
Severe early-onset obesity v0.59 INPP5E Belinda Chong reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 19668216, 32139166, 29230161, 29052317, 27998989, 27401686, 19668215; Phenotypes: Joubert syndrome 1, MIM# 213300, MONDO:0008944, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156, MONDO:0012423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital Heart Defect v0.135 DNAH11 Daniel Flanagan gene: DNAH11 was added
gene: DNAH11 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH11 were set to PMID: 31040315; 32633470
Phenotypes for gene: DNAH11 were set to Congenital heart diseases; heterotaxy
Review for gene: DNAH11 was set to GREEN
Added comment: Compound het DNAH11 variants reported in 7 families with congenital heart diseases and heterotaxy.

Biallelic DNAH11 variants commonly reported in patients with primary ciliary dyskinesia.
Sources: Literature
Severe early-onset obesity v0.59 CPE Belinda Chong reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 26120850, 32936766, 34383079; Phenotypes: BDV syndrome 619326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.88 AGPS Zornitza Stark Marked gene: AGPS as ready
Fetal anomalies v0.88 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Fetal anomalies v0.88 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Fetal anomalies v0.87 AGPS Zornitza Stark changed review comment from: Variants in this gene cause a skeletal dysplasia, intellect typically normal.; to: Variants in this gene cause a skeletal dysplasia, including congenital contractures.
Fetal anomalies v0.87 AGPS Zornitza Stark edited their review of gene: AGPS: Changed rating: GREEN
Fetal anomalies v0.87 AGL Zornitza Stark Marked gene: AGL as ready
Fetal anomalies v0.87 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Fetal anomalies v0.87 AGL Zornitza Stark Phenotypes for gene: AGL were changed from GLYCOGEN STORAGE DISEASE TYPE III to Glycogen storage disease IIIa, MIM# 232400
Fetal anomalies v0.86 AGL Zornitza Stark Classified gene: AGL as Red List (low evidence)
Fetal anomalies v0.86 AGL Zornitza Stark Gene: agl has been classified as Red List (Low Evidence).
Fetal anomalies v0.85 AGL Zornitza Stark changed review comment from: Presentation is typically with muscle, liver and cardiac involvement.; to: Presentation is typically with muscle, liver and cardiac involvement, can be childhood, but many are in adulthood.
Fetal anomalies v0.85 ACTB Zornitza Stark Marked gene: ACTB as ready
Fetal anomalies v0.85 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Fetal anomalies v0.85 ACTB Zornitza Stark Phenotypes for gene: ACTB were changed from ACTB Haploinsufficiency syndtome; BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 1, MIM#243310
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Marked gene: SCAPER as ready
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Classified gene: SCAPER as Green List (high evidence)
Severe early-onset obesity v0.59 SCAPER Zornitza Stark Gene: scaper has been classified as Green List (High Evidence).
Severe early-onset obesity v0.58 SCAPER Zornitza Stark gene: SCAPER was added
gene: SCAPER was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319
Phenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome
Review for gene: SCAPER was set to GREEN
Added comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly.
Sources: Expert list
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Marked gene: LZTFL1 as ready
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Classified gene: LZTFL1 as Green List (high evidence)
Severe early-onset obesity v0.57 LZTFL1 Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.56 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTFL1 were set to 22510444; 23692385; 27312011; 22072986
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17 (MIM#615994)
Review for gene: LZTFL1 was set to GREEN
Added comment: 3 variants reported in 2 unrelated families, with supporting functional studies. Borderline amber/green

PMID: 22510444; Marion 2012: Hom variant reported in BBS family, presenting with situs invertus. Supporting functional studies performed. Variant not present in gnomad

PMID: 23692385; Schaefer 2014: Compound heterozygous variants reported in twins with BBS, with supporting functional studies. Situs invertus not reported. Variants not in gnomAD at unexpected frquencies.

PMID: 27312011; Jiang 2016: Knockout mice model showed retinal defects and differences in weight compared to wild-type mice.

PMID: 22072986; Seo 2011: LZTFL1 interacts with BBS protein complex and is an important regulator of BBSome ciliary trafficking
Sources: Expert list
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Classified gene: IFT74 as Green List (high evidence)
Severe early-onset obesity v0.55 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.54 IFT74 Zornitza Stark gene: IFT74 was added
gene: IFT74 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 32144365
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119
Review for gene: IFT74 was set to GREEN
Added comment: Two families and a zebrafish model.
Sources: Expert list
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Marked gene: IFT27 as ready
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Classified gene: IFT27 as Green List (high evidence)
Severe early-onset obesity v0.53 IFT27 Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.52 IFT27 Zornitza Stark gene: IFT27 was added
gene: IFT27 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 24488770; 30761183; 26763875; 25443296
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, MIM#615996
Review for gene: IFT27 was set to GREEN
Added comment: Three families; two with the same variant; functional data.
Sources: Literature
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Marked gene: IFT172 as ready
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Classified gene: IFT172 as Green List (high evidence)
Severe early-onset obesity v0.51 IFT172 Zornitza Stark Gene: ift172 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.50 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 30761183; 26763875; 25168386
Phenotypes for gene: IFT172 were set to Bardet-Biedl syndrome 20, MIM# 619471
Review for gene: IFT172 was set to GREEN
Added comment: Three families reported with a BBS phenotype. Gene is associated with other ciliopathies as well.
Sources: Expert list
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Marked gene: CEP164 as ready
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Classified gene: CEP164 as Green List (high evidence)
Severe early-onset obesity v0.49 CEP164 Zornitza Stark Gene: cep164 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.48 CEP164 Zornitza Stark gene: CEP164 was added
gene: CEP164 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007
Phenotypes for gene: CEP164 were set to Bardet-Biedl syndrome
Review for gene: CEP164 was set to GREEN
Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Marked gene: C8orf37 as ready
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Classified gene: C8orf37 as Amber List (moderate evidence)
Severe early-onset obesity v0.47 C8orf37 Zornitza Stark Gene: c8orf37 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.46 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 27008867; 26854863
Phenotypes for gene: C8orf37 were set to Bardet-Biedl syndrome 21, MIM#617406
Review for gene: C8orf37 was set to AMBER
Added comment: Two individuals reported with BBS phenotype only; gene is associated with isolated RP as well. Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Marked gene: BBIP1 as ready
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence)
Severe early-onset obesity v0.45 BBIP1 Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.44 BBIP1 Zornitza Stark gene: BBIP1 was added
gene: BBIP1 was added to Severe early-onset obesity. Sources: Expert list
Mode of inheritance for gene: BBIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBIP1 were set to 24026985
Phenotypes for gene: BBIP1 were set to Bardet-Biedl syndrome 18, MIM#615995
Review for gene: BBIP1 was set to AMBER
Added comment: PMID: 24026985 - Single patient with BBS described with bi-allelic variants in this gene.

PMID: 32055034 - An additional patient with classic BBS with a homozygous splice variant confirmed by RT-PCR to result in NMD

Only one other 'pathogenic' variant in ClinVar but homozygous missense and no evidence provided.

Obesity is a feature of BBS.
Sources: Expert list
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Marked gene: VPS13B as ready
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Gene: vps13b has been classified as Green List (High Evidence).
Severe early-onset obesity v0.43 VPS13B Zornitza Stark Phenotypes for gene: VPS13B were changed from Obesity; Cohen syndrome, OMIM:216550 to Cohen syndrome MIM#216550
Severe early-onset obesity v0.42 VPS13B Zornitza Stark Publications for gene: VPS13B were set to
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Gene: ttc8 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.41 TTC8 Zornitza Stark Phenotypes for gene: TTC8 were changed from Obesity; Bardet-Biedl syndrome 8, OMIM:615985 to Bardet-Biedl syndrome 8, MIM# 615985
Severe early-onset obesity v0.40 TTC8 Zornitza Stark Publications for gene: TTC8 were set to
Mendeliome v0.9585 SIM1 Zornitza Stark Phenotypes for gene: SIM1 were changed from to congenital obesity; Prader-Willi-like syndrome
Mendeliome v0.9584 SIM1 Zornitza Stark Publications for gene: SIM1 were set to
Mendeliome v0.9583 SIM1 Zornitza Stark Mode of inheritance for gene: SIM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9582 SIM1 Zornitza Stark Classified gene: SIM1 as Green List (high evidence)
Mendeliome v0.9582 SIM1 Zornitza Stark Gene: sim1 has been classified as Green List (High Evidence).
Mendeliome v0.9581 SIM1 Zornitza Stark Deleted their comment
Mendeliome v0.9581 SIM1 Zornitza Stark edited their review of gene: SIM1: Added comment: At least 20 probands with reduced penetrance reported.

PMID:33434169;
1x missense inherited from normal mother

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

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

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

NOTE:
Individuals with Prader-Willi-like phenotype may have 6q16.2del instead, which encompasses SIM1; Changed rating: GREEN; Changed publications: 33434169, 30926952, 23778136, 23778139; Changed phenotypes: congenital obesity, Prader-Willi-like syndrome; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Marked gene: SIM1 as ready
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Gene: sim1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.39 SIM1 Zornitza Stark Phenotypes for gene: SIM1 were changed from obesity; Congenital Obesity to congenital obesity; Prader-Willi-like syndrome
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Marked gene: SDCCAG8 as ready
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Gene: sdccag8 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.38 SDCCAG8 Zornitza Stark Phenotypes for gene: SDCCAG8 were changed from Obesity; Bardet-Biedl syndrome 16, OMIM:615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444
Severe early-onset obesity v0.37 SDCCAG8 Zornitza Stark Publications for gene: SDCCAG8 were set to
Mendeliome v0.9581 POMC Zornitza Stark Marked gene: POMC as ready
Mendeliome v0.9581 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Mendeliome v0.9581 POMC Zornitza Stark Phenotypes for gene: POMC were changed from to Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734
Mendeliome v0.9580 POMC Zornitza Stark Publications for gene: POMC were set to
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Marked gene: MLIP as ready
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Classified gene: MLIP as Green List (high evidence)
Rhabdomyolysis and Metabolic Myopathy v0.84 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Mendeliome v0.9579 MLIP Zornitza Stark Marked gene: MLIP as ready
Mendeliome v0.9579 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Mendeliome v0.9579 MLIP Zornitza Stark Phenotypes for gene: MLIP were changed from 34581780 to MLIP-related myopathy with rhabdomyolysis
Mendeliome v0.9578 MLIP Zornitza Stark Publications for gene: MLIP were set to
Mendeliome v0.9577 MLIP Zornitza Stark Classified gene: MLIP as Green List (high evidence)
Mendeliome v0.9577 MLIP Zornitza Stark Gene: mlip has been classified as Green List (High Evidence).
Growth failure v1.13 STT3A Zornitza Stark Marked gene: STT3A as ready
Growth failure v1.13 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Growth failure v1.13 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Growth failure v1.13 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.133 STT3A Zornitza Stark Marked gene: STT3A as ready
Skeletal dysplasia v0.133 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.133 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Skeletal dysplasia v0.132 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Skeletal dysplasia v0.132 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4240 STT3A Zornitza Stark Publications for gene: STT3A were set to PMID: 23842455; 30701557; 28424003
Intellectual disability syndromic and non-syndromic v0.4239 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Disorders of Glycosylation v1.22 STT3A Zornitza Stark Publications for gene: STT3A were set to 23842455; 30701557; 28424003
Congenital Disorders of Glycosylation v1.21 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4238 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Intellectual disability syndromic and non-syndromic v0.4237 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4237 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.97 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Deafness_IsolatedAndComplex v1.96 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.96 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Growth failure v1.12 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Growth failure v1.12 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Growth failure v1.12 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Growth failure v1.11 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Growth failure v1.11 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4236 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Intellectual disability syndromic and non-syndromic v0.4236 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4236 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Intellectual disability syndromic and non-syndromic v0.4235 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4235 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Rasopathy v0.92 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Rasopathy v0.92 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Rasopathy v0.92 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Rasopathy v0.91 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Rasopathy v0.91 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9576 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Congenital Heart Defect v0.135 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Congenital Heart Defect v0.135 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.83 MLIP Michelle Torres gene: MLIP was added
gene: MLIP was added to Rhabdomyolysis. Sources: Literature
Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLIP were set to 34581780
Phenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis
Review for gene: MLIP was set to GREEN
Added comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).

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

Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Sources: Literature
Sources: Literature
Congenital Heart Defect v0.135 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Congenital Heart Defect v0.134 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Congenital Heart Defect v0.134 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Dystonia - complex v0.197 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Dystonia - complex v0.197 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Dystonia - complex v0.197 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Dystonia - complex v0.197 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Mendeliome v0.9575 MLIP Michelle Torres edited their review of gene: MLIP: Changed publications: 34581780; Changed phenotypes: MLIP-related myopathy with rhabdomyolysis
Intellectual disability syndromic and non-syndromic v0.4234 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Review for gene: KIAA0391 was set to RED
Added comment: Sources: Literature
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34715011; Phenotypes: Hearing loss, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4234 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.95 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Review for gene: KIAA0391 was set to GREEN
Added comment: Sources: Literature
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Mendeliome v0.9575 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Mendeliome v0.9575 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Mendeliome v0.9575 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to Episodic ataxia, type 2 MIM#108500
Mendeliome v0.9574 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Mendeliome v0.9573 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9572 KIAA0391 Lucy Spencer edited their review of gene: KIAA0391: Changed rating: GREEN
Microcephaly v1.65 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Microcephaly v1.65 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Mendeliome v0.9572 CACNA1A Anna Ritchie reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9572 KIAA0391 Zornitza Stark edited their review of gene: KIAA0391: Changed rating: GREEN
Mendeliome v0.9572 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Mendeliome v0.9572 KIAA0391 Zornitza Stark Added comment: Comment when marking as ready: Note gene is referred to as PRORP in the manuscript, but HGNC approved name is KIAA0391.
Mendeliome v0.9572 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mendeliome v0.9572 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from to Mitochondrial disorder
Mendeliome v0.9571 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Mendeliome v0.9571 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.133 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Congenital Heart Defect. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Microcephaly v1.65 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Microcephaly v1.65 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Dystonia - complex v0.196 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

Most individuals presented with spasticity (68%), dystonia (60%), or a combination of the two (52%).
Sources: Literature
Growth failure v1.10 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Growth failure. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4233 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Cerebral Palsy v1.18 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Congenital Disorders of Glycosylation v1.20 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4233 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Marked gene: STT3A as ready
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Classified gene: STT3A as Green List (high evidence)
Macrocephaly_Megalencephaly v0.93 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Growth failure v1.10 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Growth failure. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Mendeliome v0.9570 STT3A Zornitza Stark Marked gene: STT3A as ready
Mendeliome v0.9570 STT3A Zornitza Stark Gene: stt3a has been classified as Green List (High Evidence).
Microcephaly v1.64 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~53% of affected individuals had microcephaly.
Sources: Literature
Mendeliome v0.9570 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from to Congenital disorder of glycosylation, type Iw MIM#615596
Mendeliome v0.9569 KIAA0391 Lucy Spencer changed review comment from: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

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

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

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

All variants are in p.400s.
Sources: Literature
Mendeliome v0.9569 STT3A Zornitza Stark Publications for gene: STT3A were set to
Mendeliome v0.9568 STT3A Zornitza Stark Mode of inheritance for gene: STT3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rasopathy v0.90 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Rasopathy. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Cerebral Palsy v1.17 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

Approximately two-thirds of individuals had spastic-dystonic cerebral palsy.
Sources: Literature
Mendeliome v0.9567 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Added comment: Four unrelated families with multisystem disease associated with bi-allelic variants in PRORP. Affected individuals presented with variable phenotypes comprising sensorineural hearing loss, primary ovarian insufficiency, developmental delay, and brain white matter changes.

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

All variants are in p.400s.
Sources: Literature
Skeletal dysplasia v0.131 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Genetic Epilepsy v0.1371 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Hirschsprung disease v0.21 RET Zornitza Stark Marked gene: RET as ready
Hirschsprung disease v0.21 RET Zornitza Stark Gene: ret has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1370 SPATA5L1 Paul De Fazio changed review comment from: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, 13 had epilepsy.
Sources: Literature; to: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~64% of patients had epilepsy.
Sources: Literature
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Marked gene: SPATA5L1 as ready
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4233 SPATA5L1 Paul De Fazio changed review comment from: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, all 25 had ID.
Sources: Literature; to: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

~53% of patients had ID.
Sources: Literature
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Classified gene: SPATA5L1 as Green List (high evidence)
Mendeliome v0.9567 SPATA5L1 Zornitza Stark Gene: spata5l1 has been classified as Green List (High Evidence).
Brain Calcification v1.12 SLC20A2 Teresa Zhao reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: Basal ganglia calcification MIM#213600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.92 STT3A Elena Savva gene: STT3A was added
gene: STT3A was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to PMID: 34653363; 23842455; 30701557; 28424003
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw MIM#615596
Mode of pathogenicity for gene: STT3A was set to Other
Review for gene: STT3A was set to GREEN
Added comment: ID/DD reported in all cases (at least 7 individuals from 3 unrelated families, with 2 different homozygous variants in STT3A)

PMID: 34653363 - 16 patients from 9 families with new AD mode of inheritance (both de novo and inherited). All variants were missense within/around acritical active/catalytic sites. Patients aged 3-55yo, with children noted to be "healthy" until reaching young adulthood
Clinical features include dysmorphic features, macrocephaly (6/16), mild-moderate ID/DD (10/16), short stature (8/16), skeletal abnormalities (10/16), muscle cramps (7/16).
Functional studies verifies AR disease is caused by LOF variants, whereas the AD variants cause DN proven by cotransfection in WT yeast resulting in impaired glycosylation (protein levels unchanged).
Sources: Literature
Mendeliome v0.9566 MLIP Michelle Torres gene: MLIP was added
gene: MLIP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLIP were set to 34581780
Review for gene: MLIP was set to GREEN
Added comment: PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).

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

Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Sources: Literature
Mendeliome v0.9566 SPRED2 Zornitza Stark Marked gene: SPRED2 as ready
Mendeliome v0.9566 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9566 SPRED2 Zornitza Stark Classified gene: SPRED2 as Green List (high evidence)
Mendeliome v0.9566 SPRED2 Zornitza Stark Gene: spred2 has been classified as Green List (High Evidence).
Mendeliome v0.9565 STT3A Elena Savva reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34653363, 23842455, 30701557, 28424003; Phenotypes: Congenital disorder of glycosylation, type Iw MIM#615596; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1370 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, 13 had epilepsy.
Sources: Literature
Hirschsprung disease v0.21 RET Zornitza Stark Phenotypes for gene: RET were changed from to Multiple endocrine neoplasia IIA, MIM# 171400; Hirschsprung disease
Intellectual disability syndromic and non-syndromic v0.4233 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.

In 25 patients for whom full phenotype datasets were available, all 25 had ID.
Sources: Literature
Hirschsprung disease v0.20 RET Zornitza Stark Publications for gene: RET were set to
Hirschsprung disease v0.19 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hirschsprung disease v0.18 RET Zornitza Stark reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple endocrine neoplasia IIA, MIM# 171400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Spastic Paraplegia - paediatric v1.20 KPNA3 Zornitza Stark Marked gene: KPNA3 as ready
Hereditary Spastic Paraplegia - paediatric v1.20 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.20 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from infantile onset Hereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset
Hereditary Spastic Paraplegia - paediatric v1.19 KPNA3 Zornitza Stark Classified gene: KPNA3 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.19 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9565 KPNA3 Zornitza Stark Marked gene: KPNA3 as ready
Mendeliome v0.9565 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9565 KPNA3 Zornitza Stark Phenotypes for gene: KPNA3 were changed from infantile onsetHereditary Spastic Paraplegia to Hereditary Spastic Paraplegia, infantile onset
Mendeliome v0.9564 SPATA5L1 Paul De Fazio gene: SPATA5L1 was added
gene: SPATA5L1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss
Review for gene: SPATA5L1 was set to GREEN
gene: SPATA5L1 was marked as current diagnostic
Added comment: 47 individuals from 26 unrelated families from various ethnicities with biallelic variants reported. Phenotypes include ID, hearing impairment, movement disorder, abnormal MRI, hypotonia, visual impairment, epilepsy, and microcephaly.
Sources: Literature
Hereditary Spastic Paraplegia - paediatric v1.18 KPNA3 Ain Roesley gene: KPNA3 was added
gene: KPNA3 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to 34564892
Phenotypes for gene: KPNA3 were set to infantile onset Hereditary Spastic Paraplegia
Penetrance for gene: KPNA3 were set to Complete
Review for gene: KPNA3 was set to GREEN
gene: KPNA3 was marked as current diagnostic
Added comment: 8 affecteds from 5 families with infantile-onset pure HSP
all missense variants, in vitro functional demonstrated reduced cargo binding
Noted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS
Sources: Literature
Mendeliome v0.9564 KPNA3 Zornitza Stark Classified gene: KPNA3 as Green List (high evidence)
Mendeliome v0.9564 KPNA3 Zornitza Stark Gene: kpna3 has been classified as Green List (High Evidence).
Mendeliome v0.9563 SPRED2 Dean Phelan gene: SPRED2 was added
gene: SPRED2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to PMID: 34626534
Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt
Review for gene: SPRED2 was set to GREEN
Added comment: PMID: 34626534
Homozygosity for three different variants c.187C>T (p.Arg63∗), c.299T>C (p.Leu100Pro), and c.1142_1143delTT (p.Leu381Hisfs∗95) were identified in four subjects from three families. All variants severely affected protein stability, causing accelerated degradation, and variably perturbed SPRED2 functional behaviour. The clinical phenotype of the four affected individuals included developmental delay, intellectual disability, cardiac defects, short stature, skeletal anomalies, and a typical facial gestalt as major features, without the occurrence of the distinctive skin signs characterizing Legius syndrome.
Sources: Literature
Mitochondrial disease v0.655 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.655 P4HTM Zornitza Stark Classified gene: P4HTM as Amber List (moderate evidence)
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Hirschsprung disease v0.18 RET Teresa Zhao reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34267336; Phenotypes: Hirschsprung disease (HSCR), MIM#142623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.654 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925; 34285383
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to AMBER
Added comment: Mitochondrial dysfunction reported in at least 4 individuals who had muscle biopsies.

P4HTM encodes a transmembrane prolyl 4-hydroxylase with putative targets including hypoxia inducible factors, RNA polymerase II and activating transcription factor 4, which has been implicated in the integrated stress response observed in cell and animal models of mitochondrial disease. Authors postulate this may explain the mitochondrial dysfunction observed in HIDEA syndrome.
Sources: Literature
Mendeliome v0.9563 KPNA3 Ain Roesley gene: KPNA3 was added
gene: KPNA3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to 34564892
Phenotypes for gene: KPNA3 were set to infantile onsetHereditary Spastic Paraplegia
Penetrance for gene: KPNA3 were set to Complete
Review for gene: KPNA3 was set to GREEN
gene: KPNA3 was marked as current diagnostic
Added comment: 8 affecteds from 5 families with infantile-onset pure HSP
all missense variants, in vitro functional demonstrated reduced cargo binding
Noted that 1 individual had 2 de novo missense in the gene and though 1 is less deleterious than the other in the functional assays, authors were not able to rule out either one as a VUS
Sources: Literature
Dystonia - complex v0.196 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Dystonia - complex v0.196 CHD8 Zornitza Stark Gene: chd8 has been classified as Amber List (Moderate Evidence).
Dystonia - complex v0.196 CHD8 Zornitza Stark Classified gene: CHD8 as Amber List (moderate evidence)
Dystonia - complex v0.196 CHD8 Zornitza Stark Gene: chd8 has been classified as Amber List (Moderate Evidence).
Dystonia - complex v0.195 CHD8 Zornitza Stark gene: CHD8 was added
gene: CHD8 was added to Dystonia - complex. Sources: Literature
Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD8 were set to 34415117
Phenotypes for gene: CHD8 were set to Neurodevelopmental disorder, CHD8-related, MIM#615032; Dystonia
Review for gene: CHD8 was set to AMBER
Added comment: Two individuals reported with marked childhood-onset dystonia on background of neurodevelopmental issues, phenotype expansion.
Sources: Literature
Mendeliome v0.9563 POMC Zornitza Stark Mode of inheritance for gene: POMC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9562 POMC Zornitza Stark reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.36 POMC Zornitza Stark Marked gene: POMC as ready
Severe early-onset obesity v0.36 POMC Zornitza Stark Gene: pomc has been classified as Green List (High Evidence).
Severe early-onset obesity v0.36 POMC Zornitza Stark Publications for gene: POMC were set to
Intellectual disability syndromic and non-syndromic v0.4233 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Intellectual disability syndromic and non-syndromic v0.4233 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4233 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Intellectual disability syndromic and non-syndromic v0.4232 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Intellectual disability syndromic and non-syndromic v0.4231 PHF6 Zornitza Stark Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4230 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16912705; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9562 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Mendeliome v0.9562 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Mendeliome v0.9562 PHF6 Zornitza Stark Phenotypes for gene: PHF6 were changed from to Borjeson-Forssman-Lehmann syndrome, MIM# 301900
Mendeliome v0.9561 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Mendeliome v0.9560 PHF6 Zornitza Stark Mode of inheritance for gene: PHF6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9559 PHF6 Zornitza Stark reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 16912705; Phenotypes: Borjeson-Forssman-Lehmann syndrome, MIM# 301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Marked gene: PHF6 as ready
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Gene: phf6 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.35 PHF6 Zornitza Stark Publications for gene: PHF6 were set to
Mendeliome v0.9559 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Mendeliome v0.9559 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Mendeliome v0.9559 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from to Obesity with impaired prohormone processing MIM#600955
Mendeliome v0.9558 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Mendeliome v0.9557 PCSK1 Zornitza Stark Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9556 PCSK1 Zornitza Stark reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Marked gene: PCSK1 as ready
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Gene: pcsk1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.34 PCSK1 Zornitza Stark Phenotypes for gene: PCSK1 were changed from Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362 to Obesity with impaired prohormone processing MIM#600955
Severe early-onset obesity v0.33 PCSK1 Zornitza Stark Publications for gene: PCSK1 were set to
Severe early-onset obesity v0.32 NTRK2 Zornitza Stark Marked gene: NTRK2 as ready
Severe early-onset obesity v0.32 NTRK2 Zornitza Stark Gene: ntrk2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Tag SV/CNV tag was added to gene: MYT1L.
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Marked gene: MYT1L as ready
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Gene: myt1l has been classified as Green List (High Evidence).
Severe early-onset obesity v0.32 MYT1L Zornitza Stark Phenotypes for gene: MYT1L were changed from obesity; Mental retardation, autosomal dominant 39, OMIM:616521 to Mental retardation, autosomal dominant 39, MIM# 616521; Obesity
Severe early-onset obesity v0.31 MYT1L Zornitza Stark Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Marked gene: MKS1 as ready
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Gene: mks1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.30 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Obesity; Bardet-Biedl syndrome 13, OMIM:615990 to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441
Severe early-onset obesity v0.29 MKS1 Zornitza Stark Publications for gene: MKS1 were set to
Severe early-onset obesity v0.28 MKKS Zornitza Stark Marked gene: MKKS as ready
Severe early-onset obesity v0.28 MKKS Zornitza Stark Gene: mkks has been classified as Green List (High Evidence).
Severe early-onset obesity v0.28 MKKS Zornitza Stark Publications for gene: MKKS were set to
Severe early-onset obesity v0.27 MC4R Zornitza Stark Marked gene: MC4R as ready
Severe early-onset obesity v0.27 MC4R Zornitza Stark Gene: mc4r has been classified as Green List (High Evidence).
Severe early-onset obesity v0.27 MC4R Zornitza Stark Phenotypes for gene: MC4R were changed from Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306 to Obesity (BMIQ20) MIM#618406
Severe early-onset obesity v0.26 MC4R Zornitza Stark Publications for gene: MC4R were set to
Severe early-onset obesity v0.25 LEPR Zornitza Stark Marked gene: LEPR as ready
Severe early-onset obesity v0.25 LEPR Zornitza Stark Gene: lepr has been classified as Green List (High Evidence).
Severe early-onset obesity v0.25 LEPR Zornitza Stark Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581
Severe early-onset obesity v0.24 LEPR Zornitza Stark reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 17229951, 29545012; Phenotypes: Obesity, morbid, due to leptin receptor deficiency (MIM#614963); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.24 LEP Zornitza Stark Marked gene: LEP as ready
Severe early-onset obesity v0.24 LEP Zornitza Stark Gene: lep has been classified as Green List (High Evidence).
Severe early-onset obesity v0.24 LEP Zornitza Stark Publications for gene: LEP were set to
Severe early-onset obesity v0.23 LEP Zornitza Stark reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9202122, 12393845, 15472169, 25551525, 7984236; Phenotypes: Obesity, morbid, due to leptin deficiency, MIM# 614962; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.23 GNAS Zornitza Stark Marked gene: GNAS as ready
Severe early-onset obesity v0.23 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Severe early-onset obesity v0.23 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233 to Pseudohypoparathyroidism Ia, MIM# 103580; Pseudohypoparathyroidism Ic, MIM# 612462; Pseudopseudohypoparathyroidism, MIM# 612463
Severe early-onset obesity v0.22 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoparathyroidism Ia, MIM# 103580, Pseudohypoparathyroidism Ic, MIM# 612462, Pseudopseudohypoparathyroidism, MIM# 612463; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mendeliome v0.9556 SLC4A3 Zornitza Stark Marked gene: SLC4A3 as ready
Mendeliome v0.9556 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9556 SLC4A3 Zornitza Stark Classified gene: SLC4A3 as Amber List (moderate evidence)
Mendeliome v0.9556 SLC4A3 Zornitza Stark Gene: slc4a3 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.208 EHBP1L1 Zornitza Stark Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops foetalis to Non-immune hydrops fetalis
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Marked gene: EHBP1L1 as ready
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Amber List (moderate evidence)
Hydrops fetalis v0.207 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Marked gene: EHBP1L1 as ready
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Classified gene: EHBP1L1 as Amber List (moderate evidence)
Mendeliome v0.9555 EHBP1L1 Zornitza Stark Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9554 Zornitza Stark removed gene:DIP2B from the panel
Mendeliome v0.9553 Zornitza Stark removed gene:CNBP from the panel
Mendeliome v0.9552 Zornitza Stark removed gene:BEAN1 from the panel
Mendeliome v0.9551 Zornitza Stark removed gene:ATXN7 from the panel
Mendeliome v0.9550 Zornitza Stark removed gene:ATXN3 from the panel
Mendeliome v0.9549 Zornitza Stark removed gene:ATXN2 from the panel
Mendeliome v0.9548 Zornitza Stark removed gene:ATXN10 from the panel
Mendeliome v0.9547 Zornitza Stark removed gene:ATXN1 from the panel
Mendeliome v0.9546 Zornitza Stark removed gene:ATP13A2 from the panel
Mendeliome v0.9545 Zornitza Stark removed gene:ACTC1 from the panel
Mendeliome v0.9544 Zornitza Stark removed gene:BGN from the panel
Skeletal dysplasia v0.131 BGN Zornitza Stark Marked gene: BGN as ready
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.131 BGN Zornitza Stark Classified gene: BGN as Green List (high evidence)
Skeletal dysplasia v0.131 BGN Zornitza Stark Gene: bgn has been classified as Green List (High Evidence).
Hydrops fetalis v0.206 EHBP1L1 Krithika Murali gene: EHBP1L1 was added
gene: EHBP1L1 was added to Hydrops fetalis. Sources: Expert list,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786
Phenotypes for gene: EHBP1L1 were set to Non-immune hydrops foetalis
Review for gene: EHBP1L1 was set to AMBER
Added comment: Biallelic EHBP1L1 variants reported in 2 consanguineous families from Saudi Arabia with non-immune hydrops foetalis resulting in recurrent foetal loss. Supportive mouse models also previously reported.
Sources: Expert list, Literature
Mendeliome v0.9543 EHBP1L1 Krithika Murali gene: EHBP1L1 was added
gene: EHBP1L1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHBP1L1 were set to 34645488; 26833786
Phenotypes for gene: EHBP1L1 were set to Non-immune hydrops fetalis
Review for gene: EHBP1L1 was set to AMBER
Added comment: No OMIM gene disease association.

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

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


AD - Ehlers Danlos vascular type
AR - Polymicrogyria with or without vascular type EDS
Sources: Expert list, Literature
Skeletal dysplasia v0.130 GNPNAT1 Zornitza Stark Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Skeletal dysplasia v0.129 GNPNAT1 Zornitza Stark edited their review of gene: GNPNAT1: Changed phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Mendeliome v0.9539 GNPNAT1 Zornitza Stark Phenotypes for gene: GNPNAT1 were changed from Rhizomelic skeletal dysplasia to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Mendeliome v0.9538 GNPNAT1 Zornitza Stark reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic dysplasia, Ain-Naz type, MIM#619598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4230 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD), autosomal dominant to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Mendeliome v0.9538 CDH1 Krithika Murali gene: CDH1 was added
gene: CDH1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1- MIM#119580; Cleft lip and palate
Review for gene: CDH1 was set to GREEN
Added comment: Well-established gene-disease association with blepharocheilodontic syndrome (BDC) and orofacial clefting.

Gene also associated with cancer predisposition - diffuse gastric cancer (juvenile onset reported) and lobular breast cancer.
Sources: Expert list, Literature
Genetic Epilepsy v0.1370 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; nonsyndromic neurodevelopmental disorder (NDD) to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Genetic Epilepsy v0.1369 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9538 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from Mental retardation, autosomal recessive, 6 MIM# 611092; Nonsyndromic neurodevelopmental disorder, autosomal dominant to Mental retardation, autosomal recessive, 6 MIM# 611092; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Mendeliome v0.9537 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9537 CACNA1C Krithika Murali gene: CACNA1C was added
gene: CACNA1C was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CACNA1C were set to Timothy syndrome - MIM# 601005; Neurodevelopmental abnormalities and epilepsy, no OMIM#; Long QT syndrome 8- MIM#618447
Review for gene: CACNA1C was set to GREEN
Added comment: Well-established gene-disease association with Timothy Syndrome

Rodan et al. (2021) reported 25 individuals from 22 families with heterozygous truncating and missense variants in CACNA1C. The individuals presented with developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy BUT absence of classic features of Timothy syndrome or long QT syndrome.
Sources: Expert list, Literature
Mendeliome v0.9537 BRCA2 Krithika Murali gene: BRCA2 was added
gene: BRCA2 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1 - MIM# 605724
Review for gene: BRCA2 was set to GREEN
Added comment: Well-established gene disease association
Sources: Expert list, Literature
Skeletal dysplasia v0.129 BGN Krithika Murali gene: BGN was added
gene: BGN was added to Skeletal dysplasia. Sources: Expert list,Literature
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923
Phenotypes for gene: BGN were set to Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106
Review for gene: BGN was set to GREEN
Added comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD)
Sources: Expert list, Literature
Mendeliome v0.9537 BGN Krithika Murali gene: BGN was added
gene: BGN was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: BGN was set to Other
Publications for gene: BGN were set to 27236923; 27632686
Phenotypes for gene: BGN were set to Meester-Loeys syndrome - #300989; Spondyloepimetaphyseal dysplasia, X-linked - #300106
Review for gene: BGN was set to GREEN
Added comment: Well-established gene-disease associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) and Meester-Loeys syndrome (connective tissue disorder with phenotypic features including aortic dissection, aortic aneurysym, dysmorphism, joint hypermobility and mild skeletal dysplasia - with juvenile-onset reported in males)

SEMD - X-linked recessive inheritance
Meester-Loeys syndrome - hemizygous males, monoallelic mutations may cause disease in females (may be less severe, later onset than males)
Sources: Expert list, Literature
Mendeliome v0.9537 ATP13A2 Krithika Murali gene: ATP13A2 was added
gene: ATP13A2 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP13A2 were set to 1694263
Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome - MIM#606693
Review for gene: ATP13A2 was set to GREEN
Added comment: Well-established gene-disease association with Kufor-Rakeb syndrome, a form of autosomal recessive hereditary parkinsonism and dementia showing juvenile onset, as well as neuronal ceroid lipofucinosis (NCL) features in some families. Also associated with adult-onset hereditary spastic paraparesis.
Sources: Expert list, Literature
Severe early-onset obesity v0.22 MC4R Ain Roesley reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 12646665, 34238466, 32805220; Phenotypes: Obesity (BMIQ20) MIM#618406; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.91 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Mendeliome v0.9537 ACTC1 Krithika Murali gene: ACTC1 was added
gene: ACTC1 was added to Mendeliome. Sources: Expert list,Literature
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 26061005; 17947298; 31430208; 18403758; 30384889
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5, MIM# 612794; Cardiomyopathy, dilated, 1R - MIM# 613424; Cardiomyopathy, hypertrophic, 11 - #612098
Review for gene: ACTC1 was set to GREEN
Added comment: Four families reported with congenital heart disease and variants in this gene. Note gene is also associated with cardiomyopathies, including paediatric-onset dilated and hypertrophic cardiomyopathy.
Sources: Expert list, Literature
Cholestasis v0.206 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Severe early-onset obesity v0.22 MYT1L Ain Roesley reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 33622623; Phenotypes: Intellectual disability and obesity (MIM#616521); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 NTRK2 Ain Roesley reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15494731, 27884935, 29100083; Phenotypes: Obesity, hyperphagia, and developmental delay MIM#613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 PCSK1 Ain Roesley reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30383237; Phenotypes: Obesity with impaired prohormone processing MIM#600955; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Severe early-onset obesity v0.22 PHF6 Ain Roesley reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32399860; Phenotypes: Borjeson-Forssman-Lehmann syndrome MIM#301900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe early-onset obesity v0.22 POMC Ain Roesley reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33666293; Phenotypes: Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.22 SIM1 Ain Roesley reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33434169, 30926952, 23778136, 23778139; Phenotypes: congenital obesity, Prader-Willi-like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v0.22 VPS13B Ain Roesley reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30473963; Phenotypes: Cohen syndrome MIM#216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9537 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Mendeliome v0.9537 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9537 CEP19 Zornitza Stark Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure MIM#615703 to Morbid obesity and spermatogenic failure MIM#615703; Bardet-Biedl syndorme
Mendeliome v0.9536 CEP19 Zornitza Stark edited their review of gene: CEP19: Changed rating: AMBER
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Marked gene: CEP19 as ready
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.22 CEP19 Zornitza Stark Phenotypes for gene: CEP19 were changed from Morbid obesity and spermatogenic failure, OMIM:615703 to Morbid obesity and spermatogenic failure, OMIM:615703; Bardet Biedl syndrome
Severe early-onset obesity v0.21 CEP19 Zornitza Stark Classified gene: CEP19 as Amber List (moderate evidence)
Severe early-onset obesity v0.21 CEP19 Zornitza Stark Gene: cep19 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v0.20 CEP19 Zornitza Stark reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Morbid obesity and spermatogenic failure, MIM# 615703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Marked gene: BBS9 as ready
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Gene: bbs9 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.20 BBS9 Zornitza Stark Phenotypes for gene: BBS9 were changed from Bardet-Biedl syndrome 9, OMIM:615986; Obesity to Bardet-Biedl syndrome 9, MIM#615986
Severe early-onset obesity v0.19 BBS9 Zornitza Stark Publications for gene: BBS9 were set to
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Marked gene: BBS7 as ready
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Gene: bbs7 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.18 BBS7 Zornitza Stark Phenotypes for gene: BBS7 were changed from Obesity; Bardet-Biedl syndrome 7, OMIM:615984 to Bardet-Biedl syndrome 7, MIM# 615984
Severe early-onset obesity v0.17 BBS7 Zornitza Stark Publications for gene: BBS7 were set to
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Marked gene: BBS5 as ready
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Gene: bbs5 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.16 BBS5 Zornitza Stark Phenotypes for gene: BBS5 were changed from Obesity; Bardet-Biedl syndrome 5, OMIM:615983 to Bardet-Biedl syndrome 5, MIM#615983; MONDO:0014434
Severe early-onset obesity v0.15 BBS5 Zornitza Stark Publications for gene: BBS5 were set to
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Marked gene: BBS4 as ready
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Gene: bbs4 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.14 BBS4 Zornitza Stark Phenotypes for gene: BBS4 were changed from Obesity; Bardet-Biedl syndrome 4, OMIM:615982 to Bardet-Biedl syndrome 4, MIM#615982
Severe early-onset obesity v0.13 BBS4 Zornitza Stark Publications for gene: BBS4 were set to
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Marked gene: BBS2 as ready
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Gene: bbs2 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.12 BBS2 Zornitza Stark Phenotypes for gene: BBS2 were changed from Obesity; Bardet-Biedl syndrome 2, OMIM:615981 to Bardet-Biedl syndrome 2, MIM# 615981
Severe early-onset obesity v0.11 BBS2 Zornitza Stark Publications for gene: BBS2 were set to
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Marked gene: BBS12 as ready
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Gene: bbs12 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.10 BBS12 Zornitza Stark Phenotypes for gene: BBS12 were changed from obesity; Bardet-Biedl syndrome 12, OMIM:615989 to Bardet-Biedl syndrome 12, MIM# 615989
Severe early-onset obesity v0.9 BBS12 Zornitza Stark Publications for gene: BBS12 were set to
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Marked gene: BBS10 as ready
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Gene: bbs10 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.8 BBS10 Zornitza Stark Phenotypes for gene: BBS10 were changed from obesity; Bardet-Biedl syndrome 10, OMIM:615987 to Bardet-Biedl syndrome 10, MIM# 615987
Severe early-onset obesity v0.7 BBS10 Zornitza Stark Publications for gene: BBS10 were set to
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Marked gene: BBS1 as ready
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Gene: bbs1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.6 BBS1 Zornitza Stark Phenotypes for gene: BBS1 were changed from Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854 to Bardet-Biedl syndrome 1 OMIM:209900; MONDO:0008854
Severe early-onset obesity v0.5 BBS1 Zornitza Stark Publications for gene: BBS1 were set to
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Marked gene: ARL6 as ready
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Gene: arl6 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.4 ARL6 Zornitza Stark Phenotypes for gene: ARL6 were changed from Obesity; Bardet-Biedl syndrome 3, OMIM:600151 to Bardet-Biedl syndrome 3, MIM# 600151
Severe early-onset obesity v0.3 ARL6 Zornitza Stark Publications for gene: ARL6 were set to
Severe early-onset obesity v0.2 ARL6 Zornitza Stark changed review comment from: Multiple families reported and functional data.; to: Multiple families reported and functional data. Obesity is a feature.
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark Marked gene: ALMS1 as ready
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark Gene: alms1 has been classified as Green List (High Evidence).
Severe early-onset obesity v0.2 ALMS1 Zornitza Stark changed review comment from: Overlap of clinical features of BBS: retinitis pigmentosa, deafness, obesity, and diabetes mellitus; but degree of learning difficulties is less pronounced and there is no polydactyly, or hypogonadism; to: Clinical features include: retinitis pigmentosa, deafness, obesity, and diabetes mellitus.
Severe early-onset obesity v0.0 WDPCP Zornitza Stark gene: WDPCP was added
gene: WDPCP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: WDPCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDPCP were set to 26518167
Phenotypes for gene: WDPCP were set to Congenital Obesity
Severe early-onset obesity v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to ?Bardet-Biedl syndrome 11; 615988
Severe early-onset obesity v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPARG were set to [Obesity, resistance to]; Insulin resistance, severe, digenic, 604367; Lipodystrophy, familial partial, type 3, 604367; Obesity, severe, 601665; {Diabetes, type 2}, 125853; Carotid intimal medial thickness 1, 609338
Severe early-onset obesity v0.0 NR0B2 Zornitza Stark gene: NR0B2 was added
gene: NR0B2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: NR0B2 was set to
Phenotypes for gene: NR0B2 were set to Congenital Obesity; Obesity, mild, early-onset, 601665
Severe early-onset obesity v0.0 MRAP2 Zornitza Stark gene: MRAP2 was added
gene: MRAP2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MRAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MRAP2 were set to 26795956 - a rare nonsynonymous variant, p.A40S, was detected in the MRAP2 gene in a 10-year old boy with overall obesity in combination with intellectual disability in a screen of Prader-Willi syndrome (PWS) patients. The clinically diagnosed PWS could not be confirmed molecularly with MS-MLPA and CNV analysis of the 6q14.1 q16.3 region also showed no deletions in this patient. No further family data were available to determine whether the variant segregates with obesity in this family. It was shown to be (probably) damaging by in silico analysis and found in only one European (non-Finnish) individual in the ExAC database (since this database cannot release phenotype information about the screened individuals, no conclusions regarding causality of this variant can be drawn).; 27474872 - screened the entire coding region of MRAP2 for mutations in 184 children and adolescents with extreme obesity and 184 healthy lean controls. Nonsynonymous variants were then genotyped in a larger, independent study group of 300 children and adolescents with extreme obesity and 436 controls. Detected variants were also analyzed in vitro to determine their effects on MC4R signaling: p.Gln174Arg was the only variant to show an effect by reducing MC4R signalling function. Heterozygous variants were described in 4 individuals. For only two (p.Ala137Thr and p.Arg125His) were relatives also available, and the mothers of the probands were also heterozygous and had not/did not display an obesity phenotype. "In sum, our family-based genetic data do not support the relevance of the two presumably benign MRAP2 mutations for the development of obesity, they might even have no influence on body weight regulation...additional functional analyses could well reveal a functional effect of all nonsynonymous MRAP2 mutations." "We detected association of nonsynonymous MRAP2 mutations to obesity (eight carriers of nonsynonymous mutations in 1,334 individuals with obesity vs. zero carriers of nonsynonymous mutations in 1,108 controls, nominal Fisher exact two-sided P<0.005) in a crude meta-analysis on all currently available data."; 23869016 - sequenced the coding region and intron/exon boundaries of MRAP2 in obese and control individuals from the Genetics of Obesity Study (GOOS) cohort and the Swedish obese children s cohort. They describe identifying 4 heterozygous variants in 4 individuals with severe obesity, of which only one was predicted to be damaging (E24X)
Phenotypes for gene: MRAP2 were set to Prader-Willi syndrome; obesity; {?Obesity, susceptibility to, BMIQ18}
Severe early-onset obesity v0.0 MAGEL2 Zornitza Stark gene: MAGEL2 was added
gene: MAGEL2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: MAGEL2 was set to
Phenotypes for gene: MAGEL2 were set to Congenital Obesity
Severe early-onset obesity v0.0 AKR1C2 Zornitza Stark gene: AKR1C2 was added
gene: AKR1C2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Red
Mode of inheritance for gene: AKR1C2 was set to
Phenotypes for gene: AKR1C2 were set to Obesity, hyperphagia, and developmental delay
Severe early-onset obesity v0.0 TUB Zornitza Stark gene: TUB was added
gene: TUB was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: TUB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUB were set to 16443771; 22618246; 24375934; 18619628; 12076089; 16643894; 8612280; 10629044; 19885003; 10196693; 22492381; 17955208 (candidate for late-onset obesity); 18183286
Phenotypes for gene: TUB were set to ?Retinal dystrophy and obesity, OMIM:616188
Severe early-onset obesity v0.0 SH2B1 Zornitza Stark gene: SH2B1 was added
gene: SH2B1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SH2B1 were set to 24971614; 28663568; 23160192; 20808231
Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994; obesity
Severe early-onset obesity v0.0 PHIP Zornitza Stark gene: PHIP was added
gene: PHIP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHIP were set to 27900362; 31167805; 32492392; 29209020; 33867250
Phenotypes for gene: PHIP were set to dysmorphic facies; behavioral abnormality; Obesity; global developmental delay; intellectual disability
Severe early-onset obesity v0.0 PGM2L1 Zornitza Stark gene: PGM2L1 was added
gene: PGM2L1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to Neurodevelopmental disorder
Severe early-onset obesity v0.0 KSR2 Zornitza Stark gene: KSR2 was added
gene: KSR2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: KSR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KSR2 were set to 29273807
Phenotypes for gene: KSR2 were set to obesity
Severe early-onset obesity v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 31173343; 19668215
Phenotypes for gene: INPP5E were set to Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
Severe early-onset obesity v0.0 CPE Zornitza Stark gene: CPE was added
gene: CPE was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPE were set to 15870393; 34383079; 15358678; 26120850; 32936766
Phenotypes for gene: CPE were set to Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326
Severe early-onset obesity v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Amber
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP290 were set to 18327255; 23943788
Phenotypes for gene: CEP290 were set to Congenital Obesity; ?Bardet-Biedl syndrome 14, OMIM:615991
Severe early-onset obesity v0.0 VPS13B Zornitza Stark gene: VPS13B was added
gene: VPS13B was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Obesity; Cohen syndrome, OMIM:216550
Severe early-onset obesity v0.0 TTC8 Zornitza Stark gene: TTC8 was added
gene: TTC8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC8 were set to Obesity; Bardet-Biedl syndrome 8, OMIM:615985
Severe early-onset obesity v0.0 SIM1 Zornitza Stark gene: SIM1 was added
gene: SIM1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIM1 were set to 24097297; 25805767; 24260538; 23778136; 16924270; 23778139; 24814368
Phenotypes for gene: SIM1 were set to obesity; Congenital Obesity
Severe early-onset obesity v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Obesity; Bardet-Biedl syndrome 16, OMIM:615993
Severe early-onset obesity v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to {Obesity, early-onset, susceptibility to}, OMIM:601665; Obesity, adrenal insufficiency, and red hair due to POMC deficiency, OMIM:609734
Severe early-onset obesity v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, OMIM:301900
Severe early-onset obesity v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, OMIM:612362
Severe early-onset obesity v0.0 NTRK2 Zornitza Stark gene: NTRK2 was added
gene: NTRK2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NTRK2 were set to 27884935; 29100083; 24950379; 16702999; 26629410; 26727462; 15494731
Phenotypes for gene: NTRK2 were set to Obesity, hyperphagia, and developmental delay, OMIM:613886
Severe early-onset obesity v0.0 MYT1L Zornitza Stark gene: MYT1L was added
gene: MYT1L was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MYT1L were set to 25232846; 21990140; 25126114; 26240977; 24129437
Phenotypes for gene: MYT1L were set to obesity; Mental retardation, autosomal dominant 39, OMIM:616521
Severe early-onset obesity v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Obesity; Bardet-Biedl syndrome 13, OMIM:615990
Severe early-onset obesity v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome 6, OMIM:605231; Obesity
Severe early-onset obesity v0.0 MC4R Zornitza Stark gene: MC4R was added
gene: MC4R was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: MC4R was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: MC4R were set to Obesity (BMIQ20), OMIM:618406; {Obesity, resistence to (BMIQ20)}, OMIM:618306
Severe early-onset obesity v0.0 LEPR Zornitza Stark gene: LEPR was added
gene: LEPR was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEPR were set to 24611737; 27225180; 23275530; 25751111; 26925581
Phenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency, OMIM:614963
Severe early-onset obesity v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, OMIM:614962
Severe early-onset obesity v0.0 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 28663568; 28453643; 27991864
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic, OMIM:612462; Pseudohypoparathyroidism Ia, OMIM:103580; Congenital Obesity; Pseudohypoparathyroidism Ib, OMIM:603233
Severe early-onset obesity v0.0 CEP19 Zornitza Stark gene: CEP19 was added
gene: CEP19 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: CEP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP19 were set to 24268657; 29127258
Phenotypes for gene: CEP19 were set to Morbid obesity and spermatogenic failure, OMIM:615703
Severe early-onset obesity v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, OMIM:615986; Obesity
Severe early-onset obesity v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Obesity; Bardet-Biedl syndrome 7, OMIM:615984
Severe early-onset obesity v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Obesity; Bardet-Biedl syndrome 5, OMIM:615983
Severe early-onset obesity v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Obesity; Bardet-Biedl syndrome 4, OMIM:615982
Severe early-onset obesity v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Obesity; Bardet-Biedl syndrome 2, OMIM:615981
Severe early-onset obesity v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to obesity; Bardet-Biedl syndrome 12, OMIM:615989
Severe early-onset obesity v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to obesity; Bardet-Biedl syndrome 10, OMIM:615987
Severe early-onset obesity v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Severe early-onset obesity v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Obesity; Bardet-Biedl syndrome 3, OMIM:600151
Severe early-onset obesity v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Severe early-onset obesity. Sources: Genomics England PanelApp,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, OMIM:203800
Severe early-onset obesity v0.0 Zornitza Stark Added panel Severe early-onset obesity
Interstitial Lung Disease v0.154 Zornitza Stark removed gene:BTBD7 from the panel
Interstitial Lung Disease v0.153 BMPR2 Zornitza Stark Publications for gene: BMPR2 were set to
Interstitial Lung Disease v0.152 Zornitza Stark removed gene:BLOC1S6 from the panel
Interstitial Lung Disease v0.151 Zornitza Stark removed gene:BLOC1S3 from the panel
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Marked gene: COA5 as ready
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.110 COA5 Zornitza Stark Phenotypes for gene: COA5 were changed from Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Mitochondrial complex IV deficiency, 220110; syndromic HCM; Isolated complex IV deficiency; ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500
Cardiomyopathy_Paediatric v0.109 COA5 Zornitza Stark Classified gene: COA5 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.109 COA5 Zornitza Stark Gene: coa5 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.108 COA5 Zornitza Stark reviewed gene: COA5: Rating: RED; Mode of pathogenicity: None; Publications: 21457908; Phenotypes: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.150 BTBD7 Suzanna Lindsey-Temple reviewed gene: BTBD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.150 BMPR2 Suzanna Lindsey-Temple reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27587546, PMID: 24355637, PMID: 22632830, PMID: 11115378; Phenotypes: MIM# 600799 Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9536 MUC5B Zornitza Stark Marked gene: MUC5B as ready
Mendeliome v0.9536 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.150 BLOC1S6 Suzanna Lindsey-Temple reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome (HPS); Mode of inheritance: None
Mendeliome v0.9536 MUC5B Zornitza Stark Phenotypes for gene: MUC5B were changed from to {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500
Mendeliome v0.9535 MUC5B Zornitza Stark Publications for gene: MUC5B were set to
Mendeliome v0.9534 MUC5B Zornitza Stark Mode of inheritance for gene: MUC5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9533 MUC5B Zornitza Stark Classified gene: MUC5B as Red List (low evidence)
Mendeliome v0.9533 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Mendeliome v0.9532 MUC5B Zornitza Stark Tag 5'UTR tag was added to gene: MUC5B.
Mendeliome v0.9532 MUC5B Zornitza Stark reviewed gene: MUC5B: Rating: RED; Mode of pathogenicity: None; Publications: 21506741, 21506748; Phenotypes: {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.150 MUC5B Zornitza Stark Marked gene: MUC5B as ready
Interstitial Lung Disease v0.150 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.150 MUC5B Zornitza Stark Phenotypes for gene: MUC5B were changed from to {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500
Interstitial Lung Disease v0.149 MUC5B Zornitza Stark Publications for gene: MUC5B were set to
Interstitial Lung Disease v0.148 MUC5B Zornitza Stark Mode of inheritance for gene: MUC5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.147 MUC5B Zornitza Stark Classified gene: MUC5B as Red List (low evidence)
Interstitial Lung Disease v0.147 MUC5B Zornitza Stark Gene: muc5b has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.146 MUC5B Zornitza Stark Tag 5'UTR tag was added to gene: MUC5B.
Interstitial Lung Disease v0.146 MUC5B Zornitza Stark reviewed gene: MUC5B: Rating: RED; Mode of pathogenicity: None; Publications: 21506741, 21506748; Phenotypes: {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.146 BLOC1S3 Suzanna Lindsey-Temple reviewed gene: BLOC1S3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.146 NF1 Zornitza Stark Marked gene: NF1 as ready
Interstitial Lung Disease v0.146 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.146 NF1 Zornitza Stark Phenotypes for gene: NF1 were changed from to Neurofibromatosis, type 1, MIM# 162200; Diffuse interstitial lung disease; Pulmonary hypertension
Interstitial Lung Disease v0.145 NF1 Zornitza Stark Publications for gene: NF1 were set to
Interstitial Lung Disease v0.144 NF1 Zornitza Stark Mode of inheritance for gene: NF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.143 NF1 Zornitza Stark reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33446201, 32742882, 32437637; Phenotypes: Neurofibromatosis, type 1, MIM# 162200, Diffuse interstitial lung disease, Pulmonary hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.143 BCLAF1 Zornitza Stark Marked gene: BCLAF1 as ready
Interstitial Lung Disease v0.143 BCLAF1 Zornitza Stark Gene: bclaf1 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.143 BCLAF1 Zornitza Stark Phenotypes for gene: BCLAF1 were changed from to No known phenotype
Interstitial Lung Disease v0.142 BCLAF1 Zornitza Stark Publications for gene: BCLAF1 were set to
Interstitial Lung Disease v0.141 BCLAF1 Zornitza Stark Classified gene: BCLAF1 as Red List (low evidence)
Interstitial Lung Disease v0.141 BCLAF1 Zornitza Stark Gene: bclaf1 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.140 Zornitza Stark removed gene:BCAS3 from the panel
Interstitial Lung Disease v0.139 BCLAF1 Suzanna Lindsey-Temple reviewed gene: BCLAF1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19008920; Phenotypes: No known phenotype; Mode of inheritance: Unknown
Interstitial Lung Disease v0.139 BCAS3 Suzanna Lindsey-Temple reviewed gene: BCAS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Interstitial Lung Disease v0.139 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Interstitial Lung Disease v0.139 EDN3 Zornitza Stark Gene: edn3 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.139 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880
Interstitial Lung Disease v0.138 EDN3 Zornitza Stark Publications for gene: EDN3 were set to
Interstitial Lung Disease v0.137 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.136 EDN3 Zornitza Stark Classified gene: EDN3 as Red List (low evidence)
Interstitial Lung Disease v0.136 EDN3 Zornitza Stark Gene: edn3 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.135 ASCL1 Suzanna Lindsey-Temple reviewed gene: ASCL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 14532329; Phenotypes: MIM# Congenital central hypoventilation syndrome, Neonatal respiratory distress syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.135 CCDC39 Zornitza Stark Marked gene: CCDC39 as ready
Interstitial Lung Disease v0.135 CCDC39 Zornitza Stark Gene: ccdc39 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.135 CCDC39 Zornitza Stark Phenotypes for gene: CCDC39 were changed from to Ciliary dyskinesia, primary, 14, MIM# 613807
Interstitial Lung Disease v0.134 CCDC39 Zornitza Stark Publications for gene: CCDC39 were set to
Interstitial Lung Disease v0.133 CCDC39 Zornitza Stark Mode of inheritance for gene: CCDC39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.132 CCDC40 Zornitza Stark Marked gene: CCDC40 as ready
Interstitial Lung Disease v0.132 CCDC40 Zornitza Stark Gene: ccdc40 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.132 CCDC40 Zornitza Stark Phenotypes for gene: CCDC40 were changed from to Ciliary dyskinesia, primary, 15, MIM#613808
Interstitial Lung Disease v0.131 CCDC40 Zornitza Stark Publications for gene: CCDC40 were set to
Interstitial Lung Disease v0.130 CCDC40 Zornitza Stark Mode of inheritance for gene: CCDC40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.129 CFTR Zornitza Stark Marked gene: CFTR as ready
Interstitial Lung Disease v0.129 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.129 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Interstitial Lung Disease v0.128 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.127 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.127 BMPR2 Zornitza Stark Marked gene: BMPR2 as ready
Interstitial Lung Disease v0.127 BMPR2 Zornitza Stark Gene: bmpr2 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.127 BMPR2 Zornitza Stark Phenotypes for gene: BMPR2 were changed from to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450
Interstitial Lung Disease v0.126 BMPR2 Zornitza Stark Mode of inheritance for gene: BMPR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.125 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Interstitial Lung Disease v0.125 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.125 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978
Interstitial Lung Disease v0.124 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Interstitial Lung Disease v0.123 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.122 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23911641, 11854319, 24714694; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.122 MARS Zornitza Stark Marked gene: MARS as ready
Interstitial Lung Disease v0.122 MARS Zornitza Stark Gene: mars has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.122 MARS Zornitza Stark Phenotypes for gene: MARS were changed from to Interstitial lung and liver disease, MIM#615486
Interstitial Lung Disease v0.121 MARS Zornitza Stark Publications for gene: MARS were set to
Interstitial Lung Disease v0.120 MARS Zornitza Stark Mode of inheritance for gene: MARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.119 ASCL1 Zornitza Stark Marked gene: ASCL1 as ready
Interstitial Lung Disease v0.119 ASCL1 Zornitza Stark Gene: ascl1 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.119 ASCL1 Zornitza Stark Phenotypes for gene: ASCL1 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880
Interstitial Lung Disease v0.118 ASCL1 Zornitza Stark Publications for gene: ASCL1 were set to
Interstitial Lung Disease v0.117 ASCL1 Zornitza Stark Mode of inheritance for gene: ASCL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.116 ASCL1 Zornitza Stark Classified gene: ASCL1 as Amber List (moderate evidence)
Interstitial Lung Disease v0.116 ASCL1 Zornitza Stark Gene: ascl1 has been classified as Amber List (Moderate Evidence).
Interstitial Lung Disease v0.115 BDNF Zornitza Stark Marked gene: BDNF as ready
Interstitial Lung Disease v0.115 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.115 BDNF Zornitza Stark Phenotypes for gene: BDNF were changed from to Central hypoventilation syndrome, congenital, MIM#209880
Interstitial Lung Disease v0.114 BDNF Zornitza Stark Classified gene: BDNF as Red List (low evidence)
Interstitial Lung Disease v0.114 BDNF Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.113 BDNF Zornitza Stark Tag refuted tag was added to gene: BDNF.
Interstitial Lung Disease v0.113 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Interstitial Lung Disease v0.113 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.113 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from to Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia
Interstitial Lung Disease v0.112 OAS1 Zornitza Stark Publications for gene: OAS1 were set to
Interstitial Lung Disease v0.111 OAS1 Zornitza Stark Mode of pathogenicity for gene: OAS1 was changed from to Other
Interstitial Lung Disease v0.110 OAS1 Zornitza Stark Mode of inheritance for gene: OAS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.109 PARN Zornitza Stark Marked gene: PARN as ready
Interstitial Lung Disease v0.109 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.109 PARN Zornitza Stark Phenotypes for gene: PARN were changed from to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Interstitial Lung Disease v0.108 PARN Zornitza Stark Publications for gene: PARN were set to
Interstitial Lung Disease v0.107 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.106 PARN Zornitza Stark changed review comment from: Multiple families reported with both mono-allelic and bi-allelic disease.; to: Multiple families reported.
Interstitial Lung Disease v0.106 PARN Zornitza Stark edited their review of gene: PARN: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.106 PHOX2B Zornitza Stark Marked gene: PHOX2B as ready
Interstitial Lung Disease v0.106 PHOX2B Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.106 PHOX2B Zornitza Stark Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880
Interstitial Lung Disease v0.105 PHOX2B Zornitza Stark Publications for gene: PHOX2B were set to
Interstitial Lung Disease v0.104 PHOX2B Zornitza Stark Mode of inheritance for gene: PHOX2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.103 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Interstitial Lung Disease v0.103 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.103 PTPN11 Zornitza Stark Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1, MIM# 163950
Interstitial Lung Disease v0.102 PTPN11 Zornitza Stark Publications for gene: PTPN11 were set to
Interstitial Lung Disease v0.101 PTPN11 Zornitza Stark Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.100 PTPN11 Zornitza Stark Classified gene: PTPN11 as Red List (low evidence)
Interstitial Lung Disease v0.100 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.99 PTPN11 Zornitza Stark reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: None; Publications: 24039098; Phenotypes: Noonan syndrome 1, MIM# 163950; Mode of inheritance: None
Interstitial Lung Disease v0.98 RET Zornitza Stark Marked gene: RET as ready
Interstitial Lung Disease v0.98 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.98 RET Zornitza Stark Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880
Interstitial Lung Disease v0.97 RET Zornitza Stark Publications for gene: RET were set to
Interstitial Lung Disease v0.96 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.95 RET Zornitza Stark Classified gene: RET as Red List (low evidence)
Interstitial Lung Disease v0.95 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Interstitial Lung Disease v0.94 RET Zornitza Stark reviewed gene: RET: Rating: RED; Mode of pathogenicity: None; Publications: 18438890, 16443855, 12566528, 12086152; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: None
Interstitial Lung Disease v0.94 RPGR Zornitza Stark Marked gene: RPGR as ready
Interstitial Lung Disease v0.94 RPGR Zornitza Stark Gene: rpgr has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.94 RPGR Zornitza Stark Phenotypes for gene: RPGR were changed from to Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455
Interstitial Lung Disease v0.93 RPGR Zornitza Stark Publications for gene: RPGR were set to
Interstitial Lung Disease v0.92 RPGR Zornitza Stark Mode of inheritance for gene: RPGR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Interstitial Lung Disease v0.91 RSPH1 Zornitza Stark Marked gene: RSPH1 as ready
Interstitial Lung Disease v0.91 RSPH1 Zornitza Stark Gene: rsph1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.91 RSPH1 Zornitza Stark Phenotypes for gene: RSPH1 were changed from to Ciliary dyskinesia, primary, 24 (MIM#615481)
Interstitial Lung Disease v0.90 RSPH1 Zornitza Stark Publications for gene: RSPH1 were set to
Interstitial Lung Disease v0.89 RSPH1 Zornitza Stark Mode of inheritance for gene: RSPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.88 RSPH4A Zornitza Stark Marked gene: RSPH4A as ready
Interstitial Lung Disease v0.88 RSPH4A Zornitza Stark Gene: rsph4a has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.88 RSPH4A Zornitza Stark Phenotypes for gene: RSPH4A were changed from to Ciliary dyskinesia, primary, 11 (MIM#612649)
Interstitial Lung Disease v0.87 RSPH4A Zornitza Stark Publications for gene: RSPH4A were set to
Interstitial Lung Disease v0.86 RSPH4A Zornitza Stark Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.85 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Interstitial Lung Disease v0.85 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.85 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to MIM# 603401; Hermansky–Pudlak syndrome (HPS2); Childhood pulmonary fibrosis
Interstitial Lung Disease v0.84 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Interstitial Lung Disease v0.83 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.82 ACVRL1 Zornitza Stark Marked gene: ACVRL1 as ready
Interstitial Lung Disease v0.82 ACVRL1 Zornitza Stark Gene: acvrl1 has been classified as Green List (High Evidence).
Interstitial Lung Disease v0.82 ACVRL1 Zornitza Stark Phenotypes for gene: ACVRL1 were changed from to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Childhood Pulmonary Arterial Hypertension
Interstitial Lung Disease v0.81 ACVRL1 Zornitza Stark Publications for gene: ACVRL1 were set to
Interstitial Lung Disease v0.80 ACVRL1 Zornitza Stark Mode of inheritance for gene: ACVRL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.79 ABCA3 Zornitza Stark Publications for gene: ABCA3 were set to 15044640
Interstitial Lung Disease v0.78 AP3B1 Suzanna Lindsey-Temple reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10024875, PMID: 11809908, PMID: 10759101, PMID: 28585318; Phenotypes: MIM# 603401, Hermansky–Pudlak syndrome (HPS2), Childhood pulmonary fibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Interstitial Lung Disease v0.78 ACVRL1 Suzanna Lindsey-Temple reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22632830, PMID: 27587546; Phenotypes: MIM#601284 Hereditary Haemorrhagic Telangiectasia with/without PAH, Childhood Pulmonary Arterial Hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Interstitial Lung Disease v0.78 ABCA3 Suzanna Lindsey-Temple reviewed gene: ABCA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27516224, PMID: 24871971, PMID: 15976379, PMID: 17142158; Phenotypes: MIM# 601615, Severe neonatal respiratory distress syndrome, Childhood interstitial lung disease.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Fetal anomalies v0.84 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; CUTIS LAXA, AUTOSOMAL DOMINANT 3 to Cutis laxa, autosomal dominant 3, MIM# 616603; Cutis laxa, autosomal recessive, type IIIA, MIM# 219150
Fetal anomalies v0.83 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Fetal anomalies v0.82 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 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 v0.81 ALDH18A1 Zornitza Stark edited their review of gene: ALDH18A1: Changed publications: 30071989, 26320891, 24913064, 18478038, 21739576, 22411858, 28228640
Fetal anomalies v0.81 ALDH18A1 Zornitza Stark reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal dominant 3, MIM# 616603, Cutis laxa, autosomal recessive, type IIIA, MIM# 219150; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.92 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Macrocephaly_Megalencephaly v0.92 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.92 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Macrocephaly_Megalencephaly v0.91 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Macrocephaly_Megalencephaly v0.90 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.89 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.103 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Hydrocephalus_Ventriculomegaly v0.103 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.103 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Hydrocephalus_Ventriculomegaly v0.102 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Hydrocephalus_Ventriculomegaly v0.101 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus_Ventriculomegaly v0.100 AKT3 Zornitza Stark reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.81 AKT3 Zornitza Stark Marked gene: AKT3 as ready
Fetal anomalies v0.81 AKT3 Zornitza Stark Gene: akt3 has been classified as Green List (High Evidence).
Fetal anomalies v0.81 AKT3 Zornitza Stark Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937)
Fetal anomalies v0.80 AKT3 Zornitza Stark Publications for gene: AKT3 were set to
Fetal anomalies v0.79 AKT1 Zornitza Stark Publications for gene: AKT1 were set to 33030203l23246288; 21793738
Fetal anomalies v0.78 AKT1 Zornitza Stark Marked gene: AKT1 as ready
Fetal anomalies v0.78 AKT1 Zornitza Stark Gene: akt1 has been classified as Green List (High Evidence).
Fetal anomalies v0.78 AKT1 Zornitza Stark Phenotypes for gene: AKT1 were changed from PROTEUS SYNDROME to Cowden syndrome 6, MIM#615109; Proteus syndrome, somatic, MIM# 176920
Fetal anomalies v0.77 AKT1 Zornitza Stark Publications for gene: AKT1 were set to 33030203
Fetal anomalies v0.76 AKT1 Zornitza Stark Mode of pathogenicity for gene: AKT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.75 AKT1 Zornitza Stark Mode of inheritance for gene: AKT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.74 AKT1 Zornitza Stark reviewed gene: AKT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23246288, 21793738; Phenotypes: Cowden syndrome 6, MIM#615109, Proteus syndrome, somatic, MIM# 176920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.74 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Fetal anomalies v0.74 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Fetal anomalies v0.74 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from JOUBERT SYNDROME to Joubert syndrome 3, MIM# 608629
Fetal anomalies v0.73 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Intellectual disability syndromic and non-syndromic v0.4229 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Intellectual disability syndromic and non-syndromic v0.4229 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4229 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358
Intellectual disability syndromic and non-syndromic v0.4228 AHDC1 Zornitza Stark Publications for gene: AHDC1 were set to
Intellectual disability syndromic and non-syndromic v0.4227 AHDC1 Zornitza Stark Mode of inheritance for gene: AHDC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4226 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829, AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9532 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Mendeliome v0.9532 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Mendeliome v0.9532 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358
Mendeliome v0.9531 AHDC1 Zornitza Stark Publications for gene: AHDC1 were set to
Mendeliome v0.9530 AHDC1 Zornitza Stark Mode of inheritance for gene: AHDC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9529 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829, AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.72 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from Xia-Gibbs syndrome, MIM# 615829 to Xia-Gibbs syndrome, MIM# 615829; AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358
Fetal anomalies v0.71 AHDC1 Zornitza Stark Marked gene: AHDC1 as ready
Fetal anomalies v0.71 AHDC1 Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.71 AHDC1 Zornitza Stark Phenotypes for gene: AHDC1 were changed from XIA-GIBBS SYNDROME to Xia-Gibbs syndrome, MIM# 615829
Fetal anomalies v0.70 AHDC1 Zornitza Stark Publications for gene: AHDC1 were set to
Fetal anomalies v0.69 AHDC1 Zornitza Stark Mode of inheritance for gene: AHDC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.68 AHDC1 Zornitza Stark reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24791903, 27148574, 30152016; Phenotypes: Xia-Gibbs syndrome, MIM# 615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.68 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
Fetal anomalies v0.68 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.68 AGTR1 Zornitza Stark Classified gene: AGTR1 as Green List (high evidence)
Fetal anomalies v0.68 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Fetal anomalies v0.67 AGTR1 Zornitza Stark edited their review of gene: AGTR1: Changed rating: GREEN
Fetal anomalies v0.67 AGTR1 Zornitza Stark gene: AGTR1 was added
gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTR1 were set to 16116425
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430
Added comment: Three unrelated families reported. Severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects.
Sources: Expert Review
Mendeliome v0.9529 AGTR1 Zornitza Stark Marked gene: AGTR1 as ready
Mendeliome v0.9529 AGTR1 Zornitza Stark Gene: agtr1 has been classified as Green List (High Evidence).
Mendeliome v0.9529 AGTR1 Zornitza Stark Phenotypes for gene: AGTR1 were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9528 AGTR1 Zornitza Stark Publications for gene: AGTR1 were set to
Mendeliome v0.9527 AGTR1 Zornitza Stark Mode of inheritance for gene: AGTR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9526 AGTR1 Zornitza Stark reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.66 AGT Zornitza Stark Marked gene: AGT as ready
Fetal anomalies v0.66 AGT Zornitza Stark Gene: agt has been classified as Green List (High Evidence).
Fetal anomalies v0.66 AGT Zornitza Stark Classified gene: AGT as Green List (high evidence)
Fetal anomalies v0.66 AGT Zornitza Stark Gene: agt has been classified as Green List (High Evidence).
Fetal anomalies v0.65 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGT were set to 16116425; 34234805; 33163725
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430
Review for gene: AGT was set to GREEN
Added comment: Well established gene-disease association, more than 10 unrelated families reported. Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.
Sources: Expert Review
Mendeliome v0.9526 AGT Zornitza Stark Marked gene: AGT as ready
Mendeliome v0.9526 AGT Zornitza Stark Gene: agt has been classified as Green List (High Evidence).
Mendeliome v0.9526 AGT Zornitza Stark Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9525 AGT Zornitza Stark Publications for gene: AGT were set to
Mendeliome v0.9524 AGT Zornitza Stark Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9523 AGT Zornitza Stark reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 34234805, 33163725; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9523 PANK4 Zornitza Stark Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract
Mendeliome v0.9522 PANK4 Zornitza Stark edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract
Cataract v0.292 PANK4 Zornitza Stark Phenotypes for gene: PANK4 were changed from Congenital posterior cataract to Cataract 49, MIM# 619593; Congenital posterior cataract
Cataract v0.291 PANK4 Zornitza Stark edited their review of gene: PANK4: Changed phenotypes: Cataract 49, MIM# 619593, Congenital posterior cataract
Fetal anomalies v0.64 AGK Zornitza Stark Marked gene: AGK as ready
Fetal anomalies v0.64 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Fetal anomalies v0.64 AGK Zornitza Stark Phenotypes for gene: AGK were changed from SENGERS SYNDROME to Sengers syndrome, MIM#212350
Fetal anomalies v0.63 AGK Zornitza Stark changed review comment from: Cognition is reported to be normal in this mitochondrial condition.; to: Severe perinatal disorder, including HCM.
Fetal anomalies v0.63 AGK Zornitza Stark edited their review of gene: AGK: Changed rating: GREEN
Fetal anomalies v0.63 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Fetal anomalies v0.63 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Fetal anomalies v0.63 AFF4 Zornitza Stark Phenotypes for gene: AFF4 were changed from CORNELIA DE LANGE-LIKE SYNDROME to CHOPS syndrome, MIM#616368; MONDO:0014609
Fetal anomalies v0.62 AFF4 Zornitza Stark Publications for gene: AFF4 were set to
Fetal anomalies v0.61 AFF4 Zornitza Stark Mode of pathogenicity for gene: AFF4 was changed from to Other
Fetal anomalies v0.60 AFF4 Zornitza Stark Mode of inheritance for gene: AFF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.59 ADNP Zornitza Stark Marked gene: ADNP as ready
Fetal anomalies v0.59 ADNP Zornitza Stark Gene: adnp has been classified as Green List (High Evidence).
Fetal anomalies v0.59 ADNP Zornitza Stark Phenotypes for gene: ADNP were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 to Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379
Fetal anomalies v0.58 ADNP Zornitza Stark Publications for gene: ADNP were set to
Fetal anomalies v0.57 ADNP Zornitza Stark Mode of inheritance for gene: ADNP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.56 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Fetal anomalies v0.56 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Fetal anomalies v0.56 ADGRG6 Zornitza Stark Phenotypes for gene: ADGRG6 were changed from LETHAL CONGENITAL CONTRACTURE SYNDROME 9 to Lethal congenital contracture syndrome 9; OMIM #616503
Fetal anomalies v0.55 ADGRG6 Zornitza Stark Publications for gene: ADGRG6 were set to
Fetal anomalies v0.54 ADGRG6 Zornitza Stark changed review comment from: Three other families reported but with severe prenatal onset arthrogryposis, unclear if CNS features.; to: Three other families reported but with severe prenatal onset arthrogryposis.
Fetal anomalies v0.54 ADGRG6 Zornitza Stark edited their review of gene: ADGRG6: Changed rating: GREEN
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Tag SV/CNV tag was added to gene: ADGRG1.
Tag 5'UTR tag was added to gene: ADGRG1.
Fetal anomalies v0.54 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to 16240336; 33299078
Fetal anomalies v0.53 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from POLYMICROGYRIA to Polymicrogyria, bilateral frontoparietal, MIM#606854
Fetal anomalies v0.52 ADGRG1 Zornitza Stark Publications for gene: ADGRG1 were set to
Fetal anomalies v0.50 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Fetal anomalies v0.50 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Fetal anomalies v0.50 ADAMTSL2 Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from Geleophysic dysplasia 1 231050 to Geleophysic dysplasia 1, MIM#231050
Fetal anomalies v0.49 ADAMTSL2 Zornitza Stark Publications for gene: ADAMTSL2 were set to
Fetal anomalies v0.48 ADAMTSL2 Zornitza Stark edited their review of gene: ADAMTSL2: Changed publications: 21415077
Fetal anomalies v0.48 ADAMTSL2 Zornitza Stark changed review comment from: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; however, theres is little evidence of intellectual disability in this disorder.; to: Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.
Fetal anomalies v0.48 ADAMTSL2 Zornitza Stark edited their review of gene: ADAMTSL2: Changed rating: GREEN
Cataract v0.291 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Cataract v0.291 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Cataract v0.291 ADAMTS17 Zornitza Stark Classified gene: ADAMTS17 as Green List (high evidence)
Cataract v0.291 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Cataract v0.290 ADAMTS17 Zornitza Stark gene: ADAMTS17 was added
gene: ADAMTS17 was added to Cataract. Sources: Expert Review
Mode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034
Phenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Review for gene: ADAMTS17 was set to GREEN
Added comment: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present. At least 3 unrelated families reported.
Sources: Expert Review
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Mendeliome v0.9522 ADAMTS17 Zornitza Stark Phenotypes for gene: ADAMTS17 were changed from to Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Mendeliome v0.9521 ADAMTS17 Zornitza Stark Publications for gene: ADAMTS17 were set to
Mendeliome v0.9520 ADAMTS17 Zornitza Stark Mode of inheritance for gene: ADAMTS17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9519 ADAMTS17 Zornitza Stark reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034, 30712880; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark Marked gene: ADAMTS17 as ready
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark Gene: adamts17 has been classified as Green List (High Evidence).
Fetal anomalies v0.48 ADAMTS17 Zornitza Stark reviewed gene: ADAMTS17: Rating: GREEN; Mode of pathogenicity: None; Publications: 19836009, 22486325, 24940034; Phenotypes: Weill-Marchesani 4 syndrome, recessive, MIM# 613195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Marked gene: ADAMTS10 as ready
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence).
Fetal anomalies v0.48 ADAMTS10 Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive 277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600
Fetal anomalies v0.47 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Fetal anomalies v0.46 ADAMTS10 Zornitza Stark changed review comment from: Mild intellectual disability is described in around 10% of affected individuals.; to: Associated with congenital anomalies.
Intellectual disability syndromic and non-syndromic v0.4226 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Intellectual disability syndromic and non-syndromic v0.4226 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4226 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from to Aminoacylase 1 deficiency, MIM# 609924
Intellectual disability syndromic and non-syndromic v0.4225 ACY1 Zornitza Stark Publications for gene: ACY1 were set to
Intellectual disability syndromic and non-syndromic v0.4224 ACY1 Zornitza Stark Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4223 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16274666, 16465618, 17562838, 24117009; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.104 ACY1 Zornitza Stark gene: ACY1 was added
gene: ACY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 16274666; 16465618; 17562838; 24117009
Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency, MIM# 609924
Review for gene: ACY1 was set to GREEN
Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: Expert Review
Mendeliome v0.9519 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Mendeliome v0.9519 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Mendeliome v0.9519 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from to Aminoacylase 1 deficiency, MIM# 609924
Mendeliome v0.9518 ACY1 Zornitza Stark Publications for gene: ACY1 were set to
Mendeliome v0.9517 ACY1 Zornitza Stark Mode of inheritance for gene: ACY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9516 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16274666, 16465618, 17562838, 24117009; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.46 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Fetal anomalies v0.46 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Fetal anomalies v0.46 ACY1 Zornitza Stark Phenotypes for gene: ACY1 were changed from AMINOACYLASE-1 DEFICIENCY to Aminoacylase 1 deficiency, MIM# 609924
Fetal anomalies v0.45 ACY1 Zornitza Stark reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aminoacylase 1 deficiency, MIM# 609924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.45 ACVR2B Zornitza Stark Marked gene: ACVR2B as ready
Fetal anomalies v0.45 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.45 ACVR2B Zornitza Stark Phenotypes for gene: ACVR2B were changed from Heterotaxy; Dextrocardia; polysplenia; Gut malrotation; Double outlet right ventricle; Transposition of the great arteries; asplenia; right-sided spleen to Heterotaxy, visceral, 4, autosomal 613751
Fetal anomalies v0.44 ACVR2B Zornitza Stark Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489
Fetal anomalies v0.43 ACVR2B Zornitza Stark Classified gene: ACVR2B as Red List (low evidence)
Fetal anomalies v0.43 ACVR2B Zornitza Stark Gene: acvr2b has been classified as Red List (Low Evidence).
Fetal anomalies v0.40 ACTG2 Zornitza Stark Marked gene: ACTG2 as ready
Fetal anomalies v0.40 ACTG2 Zornitza Stark Gene: actg2 has been classified as Green List (High Evidence).
Fetal anomalies v0.40 ACTG2 Zornitza Stark Phenotypes for gene: ACTG2 were changed from Fetal Megacystis; Visceral myopathy 155310 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431
Fetal anomalies v0.39 ACTG2 Zornitza Stark Mode of inheritance for gene: ACTG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.38 ACTG2 Zornitza Stark reviewed gene: ACTG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676022, 26647307; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.38 ACTG1 Zornitza Stark Marked gene: ACTG1 as ready
Fetal anomalies v0.38 ACTG1 Zornitza Stark Gene: actg1 has been classified as Green List (High Evidence).
Fetal anomalies v0.38 ACTG1 Zornitza Stark Phenotypes for gene: ACTG1 were changed from BARAITSER-WINTER SYNDROME to Baraitser-Winter syndrome 2, MIM#614583
Fetal anomalies v0.37 ACTG1 Zornitza Stark Mode of inheritance for gene: ACTG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.36 ACTG1 Zornitza Stark changed review comment from: Microphthalmia and coloboma are part of the phenotype.
Sources: Expert list; to: Syndromic disorder, associated with multiple congenital abnormalities, including microphthalmia.

Sources: Expert list
Fetal anomalies v0.36 ACTC1 Zornitza Stark changed review comment from: Well established association with cardiomyopathies. Three families reported with ASD.; to: Well established association with cardiomyopathies. Four families reported with ASD.
Fetal anomalies v0.36 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Fetal anomalies v0.36 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Fetal anomalies v0.36 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from Atrial septal defect 5 612794 to Atrial septal defect 5 612794; Cardiomyopathy, hypertrophic, 11 612098
Fetal anomalies v0.35 ACTC1 Zornitza Stark Publications for gene: ACTC1 were set to 24461919
Fetal anomalies v0.34 ACTC1 Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.33 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 17947298; Phenotypes: Cardiomyopathy, hypertrophic, 11 612098, Atrial septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.33 ACTB Zornitza Stark changed review comment from: Iris coloboma is part of the phenotype.
Sources: Expert list; to: Severe perinatal disorder, multiple congenital anomalies associated.
Sources: Expert list
Fetal anomalies v0.33 ACTA1 Zornitza Stark Marked gene: ACTA1 as ready
Fetal anomalies v0.33 ACTA1 Zornitza Stark Gene: acta1 has been classified as Green List (High Evidence).
Fetal anomalies v0.33 ACTA1 Zornitza Stark Phenotypes for gene: ACTA1 were changed from Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800
Fetal anomalies v0.32 ACTA1 Zornitza Stark Deleted their comment
Fetal anomalies v0.32 ACTA1 Zornitza Stark edited their review of gene: ACTA1: Added comment: Severe perinatal neuromuscular disorders.; Changed rating: GREEN
Fetal anomalies v0.32 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Fetal anomalies v0.32 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Fetal anomalies v0.32 ACOX1 Zornitza Stark Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470; ADRENOLEUKODYSTROPHY PSEUDONEONATAL to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Fetal anomalies v0.31 ACOX1 Zornitza Stark reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9516 ACE Zornitza Stark Marked gene: ACE as ready
Mendeliome v0.9516 ACE Zornitza Stark Gene: ace has been classified as Green List (High Evidence).
Mendeliome v0.9516 ACE Zornitza Stark Phenotypes for gene: ACE were changed from to Renal tubular dysgenesis, MIM# 267430
Mendeliome v0.9515 ACE Zornitza Stark Publications for gene: ACE were set to
Mendeliome v0.9514 ACE Zornitza Stark Mode of inheritance for gene: ACE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9513 ACE Zornitza Stark reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.31 ACE Zornitza Stark Marked gene: ACE as ready
Fetal anomalies v0.31 ACE Zornitza Stark Gene: ace has been classified as Green List (High Evidence).
Fetal anomalies v0.31 ACE Zornitza Stark Phenotypes for gene: ACE were changed from Renal tubular dysgenesis 267430 to Renal tubular dysgenesis, MIM# 267430
Fetal anomalies v0.30 ACE Zornitza Stark Publications for gene: ACE were set to 30058238
Fetal anomalies v0.29 ACE Zornitza Stark reviewed gene: ACE: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, MIM# 267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9513 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Mendeliome v0.9513 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Mendeliome v0.9513 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from to VLCAD deficiency, MIM# 201475
Mendeliome v0.9512 ACADVL Zornitza Stark Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9511 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.29 ACADVL Zornitza Stark Marked gene: ACADVL as ready
Fetal anomalies v0.29 ACADVL Zornitza Stark Gene: acadvl has been classified as Green List (High Evidence).
Fetal anomalies v0.29 ACADVL Zornitza Stark Phenotypes for gene: ACADVL were changed from VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY to VLCAD deficiency, MIM# 201475
Fetal anomalies v0.28 ACADVL Zornitza Stark reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Congenital nystagmus v1.0 Zornitza Stark promoted panel to version 1.0
Congenital nystagmus v0.168 MITF Zornitza Stark Marked gene: MITF as ready
Congenital nystagmus v0.168 MITF Zornitza Stark Gene: mitf has been classified as Red List (Low Evidence).
Congenital nystagmus v0.168 MITF Zornitza Stark Phenotypes for gene: MITF were changed from Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 to Tietz albinism-deafness syndrome 103500
Congenital nystagmus v0.167 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.166 MITF Zornitza Stark reviewed gene: MITF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tietz albinism-deafness syndrome 103500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.166 ITM2B Zornitza Stark Marked gene: ITM2B as ready
Congenital nystagmus v0.166 ITM2B Zornitza Stark Gene: itm2b has been classified as Red List (Low Evidence).
Congenital nystagmus v0.166 ITM2B Zornitza Stark Phenotypes for gene: ITM2B were changed from ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 to Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079
Congenital nystagmus v0.165 ITM2B Zornitza Stark Publications for gene: ITM2B were set to
Congenital nystagmus v0.164 ITM2B Zornitza Stark reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Marked gene: GNAI3 as ready
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Gene: gnai3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.164 GNAI3 Zornitza Stark Phenotypes for gene: GNAI3 were changed from Auriculocondylar syndrome 1 602483; Ocular Albinism to Ocular albinism
Congenital nystagmus v0.163 GNAI3 Zornitza Stark Mode of inheritance for gene: GNAI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.162 GNAI3 Zornitza Stark reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: 27607449; Phenotypes: Ocular albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.162 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Congenital nystagmus v0.162 DGUOK Zornitza Stark Gene: dguok has been classified as Red List (Low Evidence).
Congenital nystagmus v0.162 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
Congenital nystagmus v0.161 DGUOK Zornitza Stark reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4223 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features
Intellectual disability syndromic and non-syndromic v0.4222 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features
Genetic Epilepsy v0.1369 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features
Genetic Epilepsy v0.1368 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features
Mendeliome v0.9511 TFE3 Zornitza Stark Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features
Mendeliome v0.9510 TFE3 Zornitza Stark edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features
Mendeliome v0.9510 FAN1 Zornitza Stark Marked gene: FAN1 as ready
Mendeliome v0.9510 FAN1 Zornitza Stark Gene: fan1 has been classified as Green List (High Evidence).
Mendeliome v0.9510 FAN1 Zornitza Stark Phenotypes for gene: FAN1 were changed from to Interstitial nephritis, karyomegalic, MIM# 614817
Renal Tubulointerstitial Disease v1.2 FAN1 Zornitza Stark Publications for gene: FAN1 were set to
Renal Tubulointerstitial Disease v1.1 FAN1 Zornitza Stark Mode of inheritance for gene: FAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9509 FAN1 Zornitza Stark Publications for gene: FAN1 were set to
Renal Tubulointerstitial Disease v1.0 FAN1 Zornitza Stark edited their review of gene: FAN1: Changed publications: 22772369, 16678356, 7847351, 8546134
Mendeliome v0.9508 FAN1 Zornitza Stark Mode of inheritance for gene: FAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Renal Tubulointerstitial Disease v1.0 FAN1 Zornitza Stark edited their review of gene: FAN1: Changed phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulointerstitial Disease v1.0 FAN1 Zornitza Stark changed review comment from: Phenotypic overlap.
Sources: Expert Review; to: Phenotypic overlap.

Well established gene-disease association. Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei.
Sources: Expert Review
Renal Ciliopathies and Nephronophthisis v1.3 FAN1 Zornitza Stark Phenotypes for gene: FAN1 were changed from Interstitial nephritis, karyomegalic to Interstitial nephritis, karyomegalic, MIM# 614817
Renal Ciliopathies and Nephronophthisis v1.2 FAN1 Zornitza Stark commented on gene: FAN1: Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei
Mendeliome v0.9507 FAN1 Zornitza Stark reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22772369, 16678356, 7847351, 8546134; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Ciliopathies and Nephronophthisis v1.2 FAN1 Zornitza Stark reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: None
Congenital nystagmus v0.161 MYO5A Zornitza Stark Marked gene: MYO5A as ready
Congenital nystagmus v0.161 MYO5A Zornitza Stark Gene: myo5a has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.161 MYO5A Zornitza Stark Phenotypes for gene: MYO5A were changed from Griscelli syndrome, type 1 214450 AR to Griscelli syndrome, type 1, MIM# 214450
Congenital nystagmus v0.160 MYO5A Zornitza Stark Publications for gene: MYO5A were set to
Congenital nystagmus v0.159 MYO5A Zornitza Stark reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 32275080, 33981514, 22711375; Phenotypes: Griscelli syndrome, type 1, MIM# 214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.159 MLPH Zornitza Stark Marked gene: MLPH as ready
Congenital nystagmus v0.159 MLPH Zornitza Stark Gene: mlph has been classified as Red List (Low Evidence).
Congenital nystagmus v0.159 MLPH Zornitza Stark Phenotypes for gene: MLPH were changed from Griscelli syndrome, type 3 609227 AR to Griscelli syndrome, type 3, MIM# 609227
Congenital nystagmus v0.158 MLPH Zornitza Stark Classified gene: MLPH as Red List (low evidence)
Congenital nystagmus v0.158 MLPH Zornitza Stark Gene: mlph has been classified as Red List (Low Evidence).
Congenital nystagmus v0.157 MLPH Zornitza Stark reviewed gene: MLPH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 3, MIM# 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9507 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta, MIM# 248510; MONDO:0009562 to Mannosidosis, beta, MIM# 248510; MONDO:0009562; Nystagmus, autosomal dominant
Mendeliome v0.9506 MANBA Zornitza Stark Publications for gene: MANBA were set to
Mendeliome v0.9505 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9504 MANBA Zornitza Stark changed review comment from: Variable severity. Well established gene-disease association.; to: Bi-allelic variants and lysosomal storage disorder: Variable severity. Well established gene-disease association.
Mendeliome v0.9504 MANBA Zornitza Stark changed review comment from: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; to: Two mono-allelic variants reported in association with isolated nystagmus.
Mendeliome v0.9504 MANBA Zornitza Stark edited their review of gene: MANBA: Added comment: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; Changed publications: 30552791, 25741867; Changed phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562, Nystagmus, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.157 MANBA Zornitza Stark Marked gene: MANBA as ready
Congenital nystagmus v0.157 MANBA Zornitza Stark Gene: manba has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.157 MANBA Zornitza Stark Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 AR to Nystagmus, autosomal dominant
Congenital nystagmus v0.156 MANBA Zornitza Stark Publications for gene: MANBA were set to
Congenital nystagmus v0.155 MANBA Zornitza Stark Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.154 MANBA Zornitza Stark reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 30552791, 25741867; Phenotypes: Nystagmus, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Marked gene: LAMA1 as ready
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Classified gene: LAMA1 as Green List (high evidence)
Congenital nystagmus v0.154 LAMA1 Zornitza Stark Gene: lama1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.153 LAMA1 Zornitza Stark reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Marked gene: DTNBP1 as ready
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.153 DTNBP1 Zornitza Stark Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7 614076 AR to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559
Congenital nystagmus v0.152 DTNBP1 Zornitza Stark Publications for gene: DTNBP1 were set to
Congenital nystagmus v0.151 DTNBP1 Zornitza Stark Classified gene: DTNBP1 as Green List (high evidence)
Congenital nystagmus v0.151 DTNBP1 Zornitza Stark Gene: dtnbp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.150 DCT Zornitza Stark Marked gene: DCT as ready
Congenital nystagmus v0.150 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Congenital nystagmus v0.150 DCT Zornitza Stark Phenotypes for gene: DCT were changed from Ocutaneous albinism to Oculocutaneous albinism, type VIII, MIM# 619165
Congenital nystagmus v0.149 DCT Zornitza Stark Classified gene: DCT as Green List (high evidence)
Congenital nystagmus v0.149 DCT Zornitza Stark Gene: dct has been classified as Green List (High Evidence).
Congenital nystagmus v0.148 BLOC1S6 Zornitza Stark Marked gene: BLOC1S6 as ready
Congenital nystagmus v0.148 BLOC1S6 Zornitza Stark Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.148 BLOC1S6 Zornitza Stark Phenotypes for gene: BLOC1S6 were changed from ?Hermansky-pudlak syndrome 9 614171 AR to Hermansky-Pudlak syndrome 9, MIM# 614171
Congenital nystagmus v0.147 BLOC1S6 Zornitza Stark Publications for gene: BLOC1S6 were set to
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Marked gene: BLOC1S5 as ready
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Gene: bloc1s5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Classified gene: BLOC1S5 as Green List (high evidence)
Congenital nystagmus v0.146 BLOC1S5 Zornitza Stark Gene: bloc1s5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Marked gene: BLOC1S3 as ready
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Classified gene: BLOC1S3 as Green List (high evidence)
Congenital nystagmus v0.145 BLOC1S3 Zornitza Stark Gene: bloc1s3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.144 AP3D1 Zornitza Stark Marked gene: AP3D1 as ready
Congenital nystagmus v0.144 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.144 AP3D1 Zornitza Stark Phenotypes for gene: AP3D1 were changed from ?Hermansky-Pudlak syndrome 10 617050 AR to Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay
Congenital nystagmus v0.143 AP3D1 Zornitza Stark Publications for gene: AP3D1 were set to
Congenital nystagmus v0.142 AP3D1 Zornitza Stark Classified gene: AP3D1 as Red List (low evidence)
Congenital nystagmus v0.142 AP3D1 Zornitza Stark Gene: ap3d1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.141 AP3D1 Zornitza Stark reviewed gene: AP3D1: Rating: RED; Mode of pathogenicity: None; Publications: 26744459, 9697856; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050, Oculocutaneous albinism, Severe neutropaenia, Recurrent infections, Seizures, Hearing loss, Neurodevelopmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.141 AHR Zornitza Stark Marked gene: AHR as ready
Congenital nystagmus v0.141 AHR Zornitza Stark Gene: ahr has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.141 AHR Zornitza Stark Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus to Foveal hypoplasia without albinism; Infantile nystagmus
Congenital nystagmus v0.140 AHR Zornitza Stark reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31009037, 33193710, 31896775; Phenotypes: Foveal hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9504 AHR Zornitza Stark reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 31009037, 33193710; Phenotypes: Foveal hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.140 SLC45A2 Zornitza Stark Marked gene: SLC45A2 as ready
Congenital nystagmus v0.140 SLC45A2 Zornitza Stark Gene: slc45a2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.140 SLC45A2 Zornitza Stark Phenotypes for gene: SLC45A2 were changed from Oculocutaneous Albinism; skin/hair/eye pigmentation 5,227240; Albinism, oculocutaneous, type IV; Oculocutaneous albinism type IV,606574 to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683
Congenital nystagmus v0.139 SLC45A2 Zornitza Stark Publications for gene: SLC45A2 were set to
Congenital nystagmus v0.138 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Congenital nystagmus v0.138 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Congenital nystagmus v0.138 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218; MONDO:0012216
Congenital nystagmus v0.137 SLC38A8 Zornitza Stark reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24045842, 24290379, 34415986, 34037952, 33498813; Phenotypes: Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, MIM# 609218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.137 SLC24A5 Zornitza Stark Marked gene: SLC24A5 as ready
Congenital nystagmus v0.137 SLC24A5 Zornitza Stark Gene: slc24a5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.137 SLC24A5 Zornitza Stark Phenotypes for gene: SLC24A5 were changed from Non-Syndromic Oculocutaneous Albinism; Albinism, oculocutaneous, type VI to Albinism, oculocutaneous, type VI, MIM# 113750
Congenital nystagmus v0.136 SLC24A5 Zornitza Stark Publications for gene: SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism; 26686029 case identified in a cohort South-Italian origin; 27129268 - functional data to support the phenotypic effects of variants reported
Congenital nystagmus v0.135 RIMS2 Zornitza Stark Marked gene: RIMS2 as ready
Congenital nystagmus v0.135 RIMS2 Zornitza Stark Gene: rims2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.135 RIMS2 Zornitza Stark Phenotypes for gene: RIMS2 were changed from night blindness; Cone-rod synaptic disorder syndrome, congenital nonprogressive , MIM#618970; retinal dysfunction; nystagmus; autism to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970
Congenital nystagmus v0.134 RIMS2 Zornitza Stark Publications for gene: RIMS2 were set to
Congenital nystagmus v0.133 RIMS2 Zornitza Stark commented on gene: RIMS2: Nystagmus is a reported feature.
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Marked gene: SLC24A1 as ready
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Classified gene: SLC24A1 as Red List (low evidence)
Congenital nystagmus v0.133 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.132 SLC24A1 Zornitza Stark reviewed gene: SLC24A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM# 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.132 SETX Zornitza Stark Marked gene: SETX as ready
Congenital nystagmus v0.132 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Congenital nystagmus v0.132 SETX Zornitza Stark Phenotypes for gene: SETX were changed from Amyotrophic lateral sclerosis 4, juvenile 602433 AD; Spinocerebellar ataxia, autosomal recessive 1 606002 AR to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002
Congenital nystagmus v0.131 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.130 SETX Zornitza Stark reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, MIM# 606002; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.130 SAG Zornitza Stark Marked gene: SAG as ready
Congenital nystagmus v0.130 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Congenital nystagmus v0.130 SAG Zornitza Stark Publications for gene: SAG were set to
Congenital nystagmus v0.129 SAG Zornitza Stark Classified gene: SAG as Red List (low evidence)
Congenital nystagmus v0.129 SAG Zornitza Stark Gene: sag has been classified as Red List (Low Evidence).
Congenital nystagmus v0.128 SAG Zornitza Stark edited their review of gene: SAG: Changed rating: RED
Congenital nystagmus v0.128 SAG Zornitza Stark changed review comment from: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.

Well established gene-disease association, multiple families reported.; to: Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.

Well established gene-disease association, multiple families reported. Nystagmus is not a feature.
Congenital nystagmus v0.128 SACS Zornitza Stark Marked gene: SACS as ready
Congenital nystagmus v0.128 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Congenital nystagmus v0.128 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia, Charlevoix-Saguenay type 270550 AR to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550
Congenital nystagmus v0.127 SACS Zornitza Stark reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Marked gene: RGS9BP as ready
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Gene: rgs9bp has been classified as Red List (Low Evidence).
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Classified gene: RGS9BP as Red List (low evidence)
Congenital nystagmus v0.127 RGS9BP Zornitza Stark Gene: rgs9bp has been classified as Red List (Low Evidence).
Congenital nystagmus v0.126 RGS9BP Zornitza Stark reviewed gene: RGS9BP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bradyopsia MIM#608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.126 RGS9 Zornitza Stark Marked gene: RGS9 as ready
Congenital nystagmus v0.126 RGS9 Zornitza Stark Gene: rgs9 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.126 RGS9 Zornitza Stark Classified gene: RGS9 as Red List (low evidence)
Congenital nystagmus v0.126 RGS9 Zornitza Stark Gene: rgs9 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.125 RGS9 Zornitza Stark reviewed gene: RGS9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bradyopsia MIM#608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.125 PDE6H Zornitza Stark Marked gene: PDE6H as ready
Congenital nystagmus v0.125 PDE6H Zornitza Stark Gene: pde6h has been classified as Green List (High Evidence).
Congenital nystagmus v0.125 PDE6H Zornitza Stark changed review comment from: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants.; to: Variants in this gene cause a spectrum of disorders along the retinal cone dystrophy/achromatopsia spectrum. Two families reported only with achromatopsia and bi-allelic variants. Nystagmus is a feature of achromatopsia.
Congenital nystagmus v0.125 OCA2 Zornitza Stark Marked gene: OCA2 as ready
Congenital nystagmus v0.125 OCA2 Zornitza Stark Gene: oca2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.125 OCA2 Zornitza Stark Phenotypes for gene: OCA2 were changed from Albinism, oculocutaneous, type II; Skin/hair/eye pigmentation 1, blond/brown hair; Oculocutaneous Albinism; Skin/hair/eye pigmentation 1, blue/nonblue eyes; Albinism, brown oculocutaneous to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200
Congenital nystagmus v0.124 OCA2 Zornitza Stark Publications for gene: OCA2 were set to
Congenital nystagmus v0.123 LYST Zornitza Stark Marked gene: LYST as ready
Congenital nystagmus v0.123 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Congenital nystagmus v0.123 LYST Zornitza Stark Phenotypes for gene: LYST were changed from oculo-cutaneous albinism; Chediak-Higashi syndrome; optic neuropathy with progressive vision loss to Chediak-Higashi syndrome, MIM# 214500
Congenital nystagmus v0.122 LYST Zornitza Stark Publications for gene: LYST were set to 20301751 - Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism (OCA), immunodeficiency, and a mild bleeding tendency.; 9215679; 10482950; 8896560
Congenital nystagmus v0.121 LRMDA Zornitza Stark Marked gene: LRMDA as ready
Congenital nystagmus v0.121 LRMDA Zornitza Stark Gene: lrmda has been classified as Green List (High Evidence).
Congenital nystagmus v0.121 LRMDA Zornitza Stark Phenotypes for gene: LRMDA were changed from Albinism, oculocutaneous, type VII to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070
Congenital nystagmus v0.120 LRMDA Zornitza Stark Publications for gene: LRMDA were set to PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism; PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; 23395477
Congenital nystagmus v0.119 RPGRIP1 Zornitza Stark Marked gene: RPGRIP1 as ready
Congenital nystagmus v0.119 RPGRIP1 Zornitza Stark Gene: rpgrip1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.119 RPGRIP1 Zornitza Stark Phenotypes for gene: RPGRIP1 were changed from to Leber congenital amaurosis 6, MIM# 613826; congenital nystagmus
Congenital nystagmus v0.118 RPGRIP1 Zornitza Stark Publications for gene: RPGRIP1 were set to
Congenital nystagmus v0.117 RPGRIP1 Zornitza Stark Mode of inheritance for gene: RPGRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.116 RPE65 Zornitza Stark Marked gene: RPE65 as ready
Congenital nystagmus v0.116 RPE65 Zornitza Stark Gene: rpe65 has been classified as Green List (High Evidence).
Congenital nystagmus v0.116 RPE65 Zornitza Stark Phenotypes for gene: RPE65 were changed from Leber Congenital Amaurosis; Leber congenital amaurosis 2, 204100; Leber congenital amaurosis 2; Retinitis pigmentosa 20 to Leber congenital amaurosis 2, 204100
Congenital nystagmus v0.115 RPE65 Zornitza Stark Publications for gene: RPE65 were set to
Congenital Stationary Night Blindness v0.20 RDH5 Zornitza Stark Marked gene: RDH5 as ready
Congenital Stationary Night Blindness v0.20 RDH5 Zornitza Stark Gene: rdh5 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.20 RDH5 Zornitza Stark Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness to Fundus albipunctatus (MIM#136880); Congenital Stationary Night Blindness
Congenital Stationary Night Blindness v0.19 RDH5 Zornitza Stark Publications for gene: RDH5 were set to
Congenital Stationary Night Blindness v0.18 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Stationary Night Blindness v0.17 RDH5 Zornitza Stark reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264, 32232344; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9504 RDH5 Zornitza Stark Publications for gene: RDH5 were set to 32232344
Mendeliome v0.9503 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9502 RDH5 Zornitza Stark reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10369264; Phenotypes: Fundus albipunctatus (MIM#136880); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.114 RDH5 Zornitza Stark Marked gene: RDH5 as ready
Congenital nystagmus v0.114 RDH5 Zornitza Stark Gene: rdh5 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.114 RDH5 Zornitza Stark Phenotypes for gene: RDH5 were changed from Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy to Fundus albipunctatus, MIM# 136880
Congenital nystagmus v0.113 RDH5 Zornitza Stark Publications for gene: RDH5 were set to
Congenital nystagmus v0.112 RDH5 Zornitza Stark Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.111 RDH5 Zornitza Stark Classified gene: RDH5 as Red List (low evidence)
Congenital nystagmus v0.111 RDH5 Zornitza Stark Gene: rdh5 has been classified as Red List (Low Evidence).
Regression v0.381 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Regression v0.381 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Regression v0.381 ETHE1 Zornitza Stark Classified gene: ETHE1 as Green List (high evidence)
Regression v0.381 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Regression v0.380 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETHE1 were set to 14732903; 28933811
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy , MIM#602473
Review for gene: ETHE1 was set to GREEN
Added comment: Severe metabolic disorder characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.

Multiple families reported.
Sources: Expert Review
Callosome v0.334 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Callosome v0.334 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Red List (Low Evidence).
Callosome v0.334 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473
Callosome v0.333 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Callosome v0.332 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.331 ETHE1 Zornitza Stark Classified gene: ETHE1 as Red List (low evidence)
Callosome v0.331 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Red List (Low Evidence).
Callosome v0.330 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4222 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Intellectual disability syndromic and non-syndromic v0.4222 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4222 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473
Intellectual disability syndromic and non-syndromic v0.4221 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Intellectual disability syndromic and non-syndromic v0.4220 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4219 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1368 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Genetic Epilepsy v0.1368 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1368 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473
Genetic Epilepsy v0.1367 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Genetic Epilepsy v0.1366 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1365 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9502 ETHE1 Zornitza Stark commented on gene: ETHE1: Severe metabolic disorder characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.
Mendeliome v0.9502 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Mendeliome v0.9502 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Mendeliome v0.9502 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy, MIM#602473
Mendeliome v0.9501 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Mendeliome v0.9500 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9499 ETHE1 Zornitza Stark reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.110 ROM1 Zornitza Stark Marked gene: ROM1 as ready
Congenital nystagmus v0.110 ROM1 Zornitza Stark Gene: rom1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.110 ROM1 Zornitza Stark Phenotypes for gene: ROM1 were changed from to Retinitis pigmentosa 7, digenic form, MIM# 608133
Congenital nystagmus v0.109 ROM1 Zornitza Stark Publications for gene: ROM1 were set to
Congenital nystagmus v0.108 ROM1 Zornitza Stark Mode of inheritance for gene: ROM1 was changed from to Other
Congenital nystagmus v0.107 ROM1 Zornitza Stark Classified gene: ROM1 as Red List (low evidence)
Congenital nystagmus v0.107 ROM1 Zornitza Stark Gene: rom1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.106 RPGRIP1 Daniel Flanagan reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23505306; Phenotypes: Leber congenital amaurosis, congenital nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9499 RHO Zornitza Stark Marked gene: RHO as ready
Mendeliome v0.9499 RHO Zornitza Stark Gene: rho has been classified as Green List (High Evidence).
Mendeliome v0.9499 RHO Zornitza Stark Phenotypes for gene: RHO were changed from to Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731
Mendeliome v0.9498 RHO Zornitza Stark Publications for gene: RHO were set to
Mendeliome v0.9497 RHO Zornitza Stark Mode of inheritance for gene: RHO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9496 RHO Zornitza Stark reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: None; Publications: 18487375, 27812022, 31213501, 1303237; Phenotypes: Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445, Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.106 RHO Zornitza Stark Marked gene: RHO as ready
Congenital nystagmus v0.106 RHO Zornitza Stark Gene: rho has been classified as Red List (Low Evidence).
Congenital nystagmus v0.106 RHO Zornitza Stark Phenotypes for gene: RHO were changed from Night blindness, congenital stationary autosomal dominant 1; Retinitis punctata albescens; Retinitis pigmentosa to Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731
Congenital nystagmus v0.105 RHO Zornitza Stark Publications for gene: RHO were set to
Congenital nystagmus v0.104 RHO Zornitza Stark Classified gene: RHO as Red List (low evidence)
Congenital nystagmus v0.104 RHO Zornitza Stark Gene: rho has been classified as Red List (Low Evidence).
Mendeliome v0.9496 RDH12 Zornitza Stark Marked gene: RDH12 as ready
Mendeliome v0.9496 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Mendeliome v0.9496 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from to Leber congenital amaurosis 13, MIM# 612712; Retinitis pigmentosa, autosomal dominant
Mendeliome v0.9495 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Mendeliome v0.9494 RDH12 Zornitza Stark Mode of inheritance for gene: RDH12 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9493 RDH12 Zornitza Stark reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 16269441, 15322982, 15258582, 31505163; Phenotypes: Leber congenital amaurosis 13, MIM# 612712, Retinitis pigmentosa, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital nystagmus v0.103 RDH12 Zornitza Stark Marked gene: RDH12 as ready
Congenital nystagmus v0.103 RDH12 Zornitza Stark Gene: rdh12 has been classified as Green List (High Evidence).
Congenital nystagmus v0.103 RDH12 Zornitza Stark Phenotypes for gene: RDH12 were changed from to Leber congenital amaurosis 13, MIM# 612712
Congenital nystagmus v0.102 RDH12 Zornitza Stark Publications for gene: RDH12 were set to
Congenital nystagmus v0.101 RDH12 Zornitza Stark Mode of inheritance for gene: RDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.100 RDH12 Zornitza Stark reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31505163; Phenotypes: Leber congenital amaurosis 13, MIM# 612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9493 RD3 Zornitza Stark Marked gene: RD3 as ready
Mendeliome v0.9493 RD3 Zornitza Stark Gene: rd3 has been classified as Green List (High Evidence).
Mendeliome v0.9493 RD3 Zornitza Stark Phenotypes for gene: RD3 were changed from to Leber congenital amaurosis 12, MIM#610612
Mendeliome v0.9492 RD3 Zornitza Stark Publications for gene: RD3 were set to
Mendeliome v0.9491 RD3 Zornitza Stark Mode of inheritance for gene: RD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9490 RD3 Zornitza Stark reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101, 22531706, 17186464; Phenotypes: Leber congenital amaurosis 12, MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.100 RD3 Zornitza Stark Marked gene: RD3 as ready
Congenital nystagmus v0.100 RD3 Zornitza Stark Gene: rd3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.100 RD3 Zornitza Stark Phenotypes for gene: RD3 were changed from to Leber congenital amaurosis 12 MIM#610612
Congenital nystagmus v0.99 RD3 Zornitza Stark Publications for gene: RD3 were set to
Congenital nystagmus v0.98 RD3 Zornitza Stark Mode of inheritance for gene: RD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.97 RAB27A Zornitza Stark Marked gene: RAB27A as ready
Congenital nystagmus v0.97 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Congenital nystagmus v0.97 RAB27A Zornitza Stark Classified gene: RAB27A as Red List (low evidence)
Congenital nystagmus v0.97 RAB27A Zornitza Stark Gene: rab27a has been classified as Red List (Low Evidence).
Congenital nystagmus v0.96 RAB27A Zornitza Stark reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4219 IFT74 Zornitza Stark Marked gene: IFT74 as ready
Intellectual disability syndromic and non-syndromic v0.4219 IFT74 Zornitza Stark Gene: ift74 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4219 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585
Intellectual disability syndromic and non-syndromic v0.4218 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582, Spermatogenic failure 58, MIM# 619585
Mendeliome v0.9490 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM# 619585 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585
Mendeliome v0.9489 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582, Spermatogenic failure 58, MIM# 619585
Ciliopathies v1.13 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582
Ciliopathies v1.12 IFT74 Zornitza Stark edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582
Joubert syndrome and other neurological ciliopathies v1.16 IFT74 Zornitza Stark Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, MIM# 619582
Joubert syndrome and other neurological ciliopathies v1.15 IFT74 Zornitza Stark reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 40, MIM# 619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.294 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Ataxia - paediatric v0.293 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia
Callosome v0.330 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Callosome v0.329 EXOSC5 Zornitza Stark Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.328 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia
Mendeliome v0.9489 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Mendeliome v0.9488 EXOSC5 Zornitza Stark reviewed gene: EXOSC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.19 EXOSC5 Zornitza Stark Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia
Cerebellar and Pontocerebellar Hypoplasia v1.18 EXOSC5 Zornitza Stark edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia
Congenital nystagmus v0.96 RPE65 Daniel Flanagan reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12960219, 14962443; Phenotypes: Leber congenital amaurosis 2, retinal diseases; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.96 RDH5 Belinda Chong reviewed gene: RDH5: Rating: RED; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264; Phenotypes: Fundus albipunctatus 136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9488 ETHE1 Melanie Marty reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.96 ROM1 Daniel Flanagan reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 8202715, 32716032, 30630813; Phenotypes: Retinitis pigmentosa 7, digenic form; Mode of inheritance: Other
Congenital nystagmus v0.96 RHO Daniel Flanagan reviewed gene: RHO: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18487375, 27812022, 31213501, 1303237; Phenotypes: Congenital stationary night blindness,retinitis pigmentosa; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.96 RDH12 Belinda Chong changed review comment from: Nystagmus is a feature of LCA; to: Nystagmus is a feature of LCA
Congenital nystagmus v0.96 RDH12 Belinda Chong reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 16269441, 15322982, 15258582; Phenotypes: Leber congenital amaurosis 13 612712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.96 RD3 Belinda Chong reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101, 22531706, 17186464; Phenotypes: Leber congenital amaurosis 12 MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.96 RD3 Belinda Chong Deleted their review
Mendeliome v0.9488 PRPH2 Zornitza Stark edited their review of gene: PRPH2: Changed phenotypes: Leber congenital amaurosis 18, MIM#608133, Macular dystrophy, vitelliform, 3, MIM#608161, Retinitis pigmentosa 7 and digenic form, MIM#608133, Choroidal dystrophy, central areolar 2, MIM#613105, Macular dystrophy, patterned, 1, MIM#169150 Retinitis punctata albescens, MIM#136880
Mendeliome v0.9488 PRPH2 Zornitza Stark Marked gene: PRPH2 as ready
Mendeliome v0.9488 PRPH2 Zornitza Stark Gene: prph2 has been classified as Green List (High Evidence).
Mendeliome v0.9488 PRPH2 Zornitza Stark Phenotypes for gene: PRPH2 were changed from Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133 to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880
Mendeliome v0.9487 PRPH2 Zornitza Stark Phenotypes for gene: PRPH2 were changed from to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133
Mendeliome v0.9486 PRPH2 Zornitza Stark Publications for gene: PRPH2 were set to
Mendeliome v0.9485 PRPH2 Zornitza Stark Mode of inheritance for gene: PRPH2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9484 PRPH2 Zornitza Stark reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32660024; Phenotypes: Leber congenital amaurosis 18, MIM#608133 Macular dystrophy, vitelliform, 3, MIM#608161 Retinitis pigmentosa 7 and digenic form, MIM#608133 Choroidal dystrophy, central areolar 2, MIM#613105 Macular dystrophy, patterned, 1, MIM#169150 Retinitis punctata albescens, MIM#136880; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital nystagmus v0.96 PRPH2 Zornitza Stark Marked gene: PRPH2 as ready
Congenital nystagmus v0.96 PRPH2 Zornitza Stark Gene: prph2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.96 PRPH2 Zornitza Stark Phenotypes for gene: PRPH2 were changed from to Leber congenital amaurosis 18 MIM#608133
Congenital nystagmus v0.95 PRPH2 Zornitza Stark Publications for gene: PRPH2 were set to
Congenital nystagmus v0.94 PRPH2 Zornitza Stark Mode of inheritance for gene: PRPH2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.93 PRPH2 Zornitza Stark reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33712029; Phenotypes: Leber congenital amaurosis 18 MIM#608133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.93 PDE6C Zornitza Stark Marked gene: PDE6C as ready
Congenital nystagmus v0.93 PDE6C Zornitza Stark Gene: pde6c has been classified as Green List (High Evidence).
Congenital nystagmus v0.93 PDE6C Zornitza Stark Publications for gene: PDE6C were set to 19615668; 30080950
Congenital Stationary Night Blindness v0.17 PDE6B Zornitza Stark Marked gene: PDE6B as ready
Congenital Stationary Night Blindness v0.17 PDE6B Zornitza Stark Gene: pde6b has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.17 PDE6B Zornitza Stark Publications for gene: PDE6B were set to
Congenital Stationary Night Blindness v0.16 PDE6B Zornitza Stark Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Stationary Night Blindness v0.15 PDE6B Zornitza Stark reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17044014, 24760071, 8075643; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.92 PDE6B Zornitza Stark Marked gene: PDE6B as ready
Congenital nystagmus v0.92 PDE6B Zornitza Stark Gene: pde6b has been classified as Red List (Low Evidence).
Congenital nystagmus v0.92 PDE6B Zornitza Stark Publications for gene: PDE6B were set to
Congenital nystagmus v0.91 PDE6B Zornitza Stark Mode of inheritance for gene: PDE6B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.90 PDE6B Zornitza Stark Classified gene: PDE6B as Red List (low evidence)
Congenital nystagmus v0.90 PDE6B Zornitza Stark Gene: pde6b has been classified as Red List (Low Evidence).
Congenital nystagmus v0.89 PDE6B Zornitza Stark reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 17044014, 24760071, 8075643; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.89 RD3 Belinda Chong reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101; Phenotypes: Leber congenital amaurosis 12 610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.89 RAB27A Belinda Chong reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.89 PRPH2 Belinda Chong changed review comment from: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023).

PubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population.


PubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001.; to: PubMed: 23847139 In 3 unrelated patients with early-onset retinal dystrophy who were negative for mutation in known LCA or juvenile RP genes, Wang et al. (2013) identified homozygosity for mutations in the PRPH2 gene: 2 of the patients, 1 diagnosed with Leber congenital amaurosis (LCA) and 1 with juvenile RP, were homozygous for the L185P mutation previously detected in patients with digenic RP7 (179605.0004), whereas the third patient, diagnosed with LCA, was homozygous for another missense mutation in PRPH2 (C213R; 179605.0023).

PubMed: 25447119 Manes et al. (2015) screened for mutations in the PRPH2 gene in a cohort of 310 families, originating mainly from France, with autosomal dominant RP, and identified 15 different mutations in 32 probands, accounting for a prevalence of 10.3% in this population.


PubMed: 1684223 In 3 unrelated families with RP, 1 of which included a patient who was previously reported by Kajiwara et al. (1991), Kajiwara et al. (1994) demonstrated that the L185P mutation (179605.0004) causes retinitis pigmentosa only when combined with a null mutation of the ROM1 gene in double heterozygous state; see 180721.0001.
Congenital nystagmus v0.89 PRPH2 Belinda Chong reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23847139, 25447119, 1684223; Phenotypes: Choroidal dystrophy, central areolar 2 MIM#613105, Leber congenital amaurosis 18 MIM#608133, Macular dystrophy, patterned, 1 MIM#169150, Macular dystrophy, vitelliform, 3 MIM#608161, Retinitis pigmentosa 7 and digenic form MIM#608133, Retinitis punctata albescens MIM#136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4218 ZFHX4 Zornitza Stark Marked gene: ZFHX4 as ready
Intellectual disability syndromic and non-syndromic v0.4218 ZFHX4 Zornitza Stark Gene: zfhx4 has been classified as Green List (High Evidence).
Congenital nystagmus v0.89 PDE6C Belinda Chong reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 19887631, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.89 PDE6B Belinda Chong reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: None; Publications: 18854872, 8075643; Phenotypes: Retinitis pigmentosa-40 MIM#613801, Night blindness, congenital stationary, autosomal dominant 2 MIM# 163500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9484 XBP1 Zornitza Stark Marked gene: XBP1 as ready
Mendeliome v0.9484 XBP1 Zornitza Stark Gene: xbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.9484 XBP1 Zornitza Stark Publications for gene: XBP1 were set to
Mendeliome v0.9483 XBP1 Zornitza Stark Classified gene: XBP1 as Red List (low evidence)
Mendeliome v0.9483 XBP1 Zornitza Stark Gene: xbp1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.27 ACTA2 Zornitza Stark Marked gene: ACTA2 as ready
Fetal anomalies v0.27 ACTA2 Zornitza Stark Gene: acta2 has been classified as Green List (High Evidence).
Fetal anomalies v0.27 ACTA2 Zornitza Stark Phenotypes for gene: ACTA2 were changed from AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5 to Multisystemic smooth muscle dysfunction syndrome - MIM# 613834
Fetal anomalies v0.26 ACTA2 Zornitza Stark Publications for gene: ACTA2 were set to
Fetal anomalies v0.25 ACTA2 Zornitza Stark Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9482 Zornitza Stark removed gene:ACTC1 from the panel
Mendeliome v0.9481 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Mendeliome v0.9481 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9481 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047; 8757136
Mendeliome v0.9480 BCL9L Zornitza Stark Classified gene: BCL9L as Amber List (moderate evidence)
Mendeliome v0.9480 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.9 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Heterotaxy v1.9 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.9 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047; 8757136
Mendeliome v0.9479 BCL9L Zornitza Stark reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart disease; Mode of inheritance: None
Heterotaxy v1.9 BCL9L Zornitza Stark Classified gene: BCL9L as Amber List (moderate evidence)
Heterotaxy v1.9 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.133 BCL9L Zornitza Stark Marked gene: BCL9L as ready
Congenital Heart Defect v0.133 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Heterotaxy v1.8 BCL9L Zornitza Stark reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart defects; Mode of inheritance: None
Congenital Heart Defect v0.133 BCL9L Zornitza Stark Publications for gene: BCL9L were set to 23035047; 8757136
Congenital Heart Defect v0.132 BCL9L Zornitza Stark Classified gene: BCL9L as Amber List (moderate evidence)
Congenital Heart Defect v0.132 BCL9L Zornitza Stark Gene: bcl9l has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.131 BCL9L Zornitza Stark reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: None; Publications: 30366904; Phenotypes: Congenital heart defects; Mode of inheritance: None
Skeletal dysplasia v0.129 Zornitza Stark removed gene:IMPDH1 from the panel
Mendeliome v0.9479 IMPDH1 Zornitza Stark Marked gene: IMPDH1 as ready
Mendeliome v0.9479 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Green List (High Evidence).
Mendeliome v0.9479 IMPDH1 Zornitza Stark Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)
Mendeliome v0.9478 IMPDH1 Zornitza Stark Publications for gene: IMPDH1 were set to
Mendeliome v0.9477 IMPDH1 Zornitza Stark Mode of inheritance for gene: IMPDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9476 IMPDH1 Zornitza Stark reviewed gene: IMPDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16384941; Phenotypes: Leber congenital amaurosis 11 (MIM# 613837), Retinitis pigmentosa 10 (MIM# 180105); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Dominant v0.33 IMPDH1 Zornitza Stark Marked gene: IMPDH1 as ready
Retinitis pigmentosa_Autosomal Dominant v0.33 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.33 IMPDH1 Zornitza Stark Publications for gene: IMPDH1 were set to
Retinitis pigmentosa_Autosomal Dominant v0.32 IMPDH1 Zornitza Stark Mode of inheritance for gene: IMPDH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.89 IMPDH1 Zornitza Stark Marked gene: IMPDH1 as ready
Congenital nystagmus v0.89 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.89 IMPDH1 Zornitza Stark Phenotypes for gene: IMPDH1 were changed from to Leber congenital amaurosis 11, MIM#613837
Congenital nystagmus v0.88 IMPDH1 Zornitza Stark Publications for gene: IMPDH1 were set to
Congenital nystagmus v0.87 IMPDH1 Zornitza Stark Mode of inheritance for gene: IMPDH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.86 IMPDH1 Zornitza Stark Classified gene: IMPDH1 as Amber List (moderate evidence)
Congenital nystagmus v0.86 IMPDH1 Zornitza Stark Gene: impdh1 has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.85 IMPDH1 Zornitza Stark reviewed gene: IMPDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 11 MIM#613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.128 Zornitza Stark removed gene:KCNJ13 from the panel
Mendeliome v0.9476 KCNJ13 Zornitza Stark Marked gene: KCNJ13 as ready
Mendeliome v0.9476 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Green List (High Evidence).
Mendeliome v0.9476 KCNJ13 Zornitza Stark Phenotypes for gene: KCNJ13 were changed from to Leber congenital amaurosis 16 MIM#614186; Snowflake vitreoretinal degeneration, MIM# 193230
Mendeliome v0.9475 KCNJ13 Zornitza Stark Publications for gene: KCNJ13 were set to
Mendeliome v0.9474 KCNJ13 Zornitza Stark Mode of inheritance for gene: KCNJ13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9473 KCNJ13 Zornitza Stark changed review comment from: LCA and bi-allelic variants: at least 4 individuals reported. Green.

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

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

Single family reported with snowflake vitreoretinal degeneration and mono-allelic variant, supportive functional data. Amber/Red.
Mendeliome v0.9473 KCNJ13 Zornitza Stark reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27203561, 25475713, 21763485, 18179896, 23255580, 31647904; Phenotypes: Leber congenital amaurosis 16 MIM#614186, Snowflake vitreoretinal degeneration, MIM# 193230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.85 KCNJ13 Zornitza Stark Marked gene: KCNJ13 as ready
Congenital nystagmus v0.85 KCNJ13 Zornitza Stark Gene: kcnj13 has been classified as Green List (High Evidence).
Congenital nystagmus v0.85 KCNJ13 Zornitza Stark Phenotypes for gene: KCNJ13 were changed from to Leber congenital amaurosis 16 MIM#614186
Congenital nystagmus v0.84 KCNJ13 Zornitza Stark Publications for gene: KCNJ13 were set to
Congenital nystagmus v0.83 KCNJ13 Zornitza Stark Mode of inheritance for gene: KCNJ13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.82 LRAT Zornitza Stark Marked gene: LRAT as ready
Congenital nystagmus v0.82 LRAT Zornitza Stark Gene: lrat has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.82 LRAT Zornitza Stark Phenotypes for gene: LRAT were changed from to Leber congenital amaurosis 14, MIM#613341
Congenital nystagmus v0.81 LRAT Zornitza Stark Publications for gene: LRAT were set to
Congenital nystagmus v0.80 LRAT Zornitza Stark Mode of inheritance for gene: LRAT was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.79 LRAT Zornitza Stark Classified gene: LRAT as Amber List (moderate evidence)
Congenital nystagmus v0.79 LRAT Zornitza Stark Gene: lrat has been classified as Amber List (Moderate Evidence).
Congenital nystagmus v0.78 LRAT Zornitza Stark reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 14, MIM#613341; Mode of inheritance: None
Congenital Stationary Night Blindness v0.15 LRIT3 Zornitza Stark Marked gene: LRIT3 as ready
Congenital Stationary Night Blindness v0.15 LRIT3 Zornitza Stark Gene: lrit3 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.15 LRIT3 Zornitza Stark Publications for gene: LRIT3 were set to
Congenital Stationary Night Blindness v0.14 LRIT3 Zornitza Stark reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 24598786, 31578364, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9473 LRIT3 Zornitza Stark Marked gene: LRIT3 as ready
Mendeliome v0.9473 LRIT3 Zornitza Stark Gene: lrit3 has been classified as Green List (High Evidence).
Mendeliome v0.9473 LRIT3 Zornitza Stark Phenotypes for gene: LRIT3 were changed from to Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058
Mendeliome v0.9472 LRIT3 Zornitza Stark Publications for gene: LRIT3 were set to
Mendeliome v0.9471 LRIT3 Zornitza Stark Mode of inheritance for gene: LRIT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9470 LRIT3 Zornitza Stark reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 24598786, 31578364, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.24 Zornitza Stark removed gene:LRIT3 from the panel
Congenital nystagmus v0.78 LRIT3 Zornitza Stark Marked gene: LRIT3 as ready
Congenital nystagmus v0.78 LRIT3 Zornitza Stark Gene: lrit3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.78 LRIT3 Zornitza Stark Publications for gene: LRIT3 were set to
Congenital Heart Defect v0.131 BCL9L Krithika Murali gene: BCL9L was added
gene: BCL9L was added to Congenital Heart Defect. Sources: Expert list,Literature,Other
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047; 8757136
Phenotypes for gene: BCL9L were set to Congenital Heart Disease; Heterotaxy
Review for gene: BCL9L was set to AMBER
Added comment: Novel gene disease association. Saunders et al. 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136)
Sources: Expert list, Literature, Other
Congenital nystagmus v0.77 LRIT3 Zornitza Stark Classified gene: LRIT3 as Red List (low evidence)
Congenital nystagmus v0.77 LRIT3 Zornitza Stark Gene: lrit3 has been classified as Red List (Low Evidence).
Heterotaxy v1.8 BCL9L Krithika Murali gene: BCL9L was added
gene: BCL9L was added to Heterotaxy. Sources: Expert list,Literature,Other
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047; 8757136
Phenotypes for gene: BCL9L were set to Heterotaxy; Congenital Heart Disease
Review for gene: BCL9L was set to AMBER
Added comment: Novel gene disease association. Saunders et al., 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136)
Sources: Expert list, Literature, Other
Congenital nystagmus v0.76 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 5, multiple subtypes 604229, Optic nerve hypoplasia 165550 AD, Foveal hypoplasia 1 136520 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.76 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Congenital nystagmus v0.76 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.76 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD to Anterior segment dysgenesis 5, multiple subtypes 604229; Optic nerve hypoplasia 165550 AD; Foveal hypoplasia 1 136520 AD
Congenital nystagmus v0.75 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Congenital nystagmus v0.74 NMNAT1 Zornitza Stark Marked gene: NMNAT1 as ready
Congenital nystagmus v0.74 NMNAT1 Zornitza Stark Gene: nmnat1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.74 NMNAT1 Zornitza Stark Phenotypes for gene: NMNAT1 were changed from to Leber congenital amaurosis 9 MIM#608553; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260
Congenital nystagmus v0.73 NMNAT1 Zornitza Stark Publications for gene: NMNAT1 were set to
Congenital nystagmus v0.72 NMNAT1 Zornitza Stark Mode of inheritance for gene: NMNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.71 NMNAT1 Zornitza Stark reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital Stationary Night Blindness v0.14 NYX Zornitza Stark Marked gene: NYX as ready
Congenital Stationary Night Blindness v0.14 NYX Zornitza Stark Gene: nyx has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.14 NYX Zornitza Stark Publications for gene: NYX were set to
Congenital Stationary Night Blindness v0.13 NYX Zornitza Stark reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9470 NYX Zornitza Stark Marked gene: NYX as ready
Mendeliome v0.9470 NYX Zornitza Stark Gene: nyx has been classified as Green List (High Evidence).
Mendeliome v0.9470 NYX Zornitza Stark Phenotypes for gene: NYX were changed from to Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500
Mendeliome v0.9469 BCL9L Krithika Murali gene: BCL9L was added
gene: BCL9L was added to Mendeliome. Sources: Literature,Expert list,Other
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047; 8757136
Phenotypes for gene: BCL9L were set to Heterotaxy; Congenital Heart Disease
Review for gene: BCL9L was set to AMBER
Added comment: Novel gene disease assocaition. Saunders et al., 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136)
Sources: Literature, Expert list, Other
Mendeliome v0.9469 NYX Zornitza Stark Publications for gene: NYX were set to
Mendeliome v0.9468 NYX Zornitza Stark Mode of inheritance for gene: NYX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9467 NYX Zornitza Stark reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v0.23 Zornitza Stark removed gene:NYX from the panel
Congenital nystagmus v0.71 NYX Zornitza Stark Marked gene: NYX as ready
Congenital nystagmus v0.71 NYX Zornitza Stark Gene: nyx has been classified as Green List (High Evidence).
Congenital nystagmus v0.71 NYX Zornitza Stark Publications for gene: NYX were set to
Skeletal dysplasia v0.127 Zornitza Stark removed gene:SPATA7 from the panel
Mendeliome v0.9467 ACTC1 Krithika Murali gene: ACTC1 was added
gene: ACTC1 was added to Mendeliome. Sources: Literature,Expert list
Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTC1 were set to 17947298; 31430208
Phenotypes for gene: ACTC1 were set to Atrial septal defect 5 - MIM# 612794; Cardiomyopathy, dilated, 1R - MIM# 613424; Cardiomyopathy, hypertrophic, 11 - #612098; Left ventricular noncompaction 4 - #613424
Review for gene: ACTC1 was set to GREEN
Added comment: Three families reported with congenital heart disease and variants in this gene. Gene is also associated with cardiomyopathies, including paediatric onset.
Sources: Literature, Expert list
Fetal anomalies v0.22 ACTA2 Krithika Murali edited their review of gene: ACTA2: Added comment: Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.

More than 40 unrelated individuals reported, missense at p.Arg179 position.; Changed rating: GREEN; Changed publications: 20734336, 29300374; Changed phenotypes: Multisystemic smooth muscle dysfunction syndrome - MIM# 613834
Fetal anomalies v0.22 ACTA2 Krithika Murali Deleted their comment
Congenital nystagmus v0.70 SPATA7 Zornitza Stark Marked gene: SPATA7 as ready
Congenital nystagmus v0.70 SPATA7 Zornitza Stark Gene: spata7 has been classified as Green List (High Evidence).
Congenital nystagmus v0.70 SPATA7 Zornitza Stark Phenotypes for gene: SPATA7 were changed from to Leber congenital amaurosis 3, MIM# 604232
Congenital nystagmus v0.69 SPATA7 Zornitza Stark Publications for gene: SPATA7 were set to
Congenital nystagmus v0.68 SPATA7 Zornitza Stark Mode of inheritance for gene: SPATA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.67 SPATA7 Zornitza Stark reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19268277, 21310915; Phenotypes: Leber congenital amaurosis 3, MIM# 604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.67 TRPM1 Zornitza Stark Marked gene: TRPM1 as ready
Congenital nystagmus v0.67 TRPM1 Zornitza Stark Gene: trpm1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.67 TRPM1 Zornitza Stark Publications for gene: TRPM1 were set to
Congenital nystagmus v0.66 TRPM1 Zornitza Stark reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878917, 19896113, 19896109; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.66 TULP1 Zornitza Stark Marked gene: TULP1 as ready
Congenital nystagmus v0.66 TULP1 Zornitza Stark Gene: tulp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.66 TULP1 Zornitza Stark Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR to Leber congenital amaurosis 15, MIM# 613843
Congenital nystagmus v0.65 TULP1 Zornitza Stark Publications for gene: TULP1 were set to
Congenital nystagmus v0.64 TULP1 Zornitza Stark reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 24547928; Phenotypes: Leber congenital amaurosis 15, MIM# 613843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.22 ACTA2 Krithika Murali reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: None; Publications: 17994018; Phenotypes: Aortic aneurysm, familial thoracic 6 - 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital nystagmus v0.64 TYR Zornitza Stark Marked gene: TYR as ready
Congenital nystagmus v0.64 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Congenital nystagmus v0.64 TYR Zornitza Stark Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB to Albinism, oculocutaneous, type IA, MIM# 203100; Albinism, oculocutaneous, type IB, MIM# 606952
Congenital nystagmus v0.63 TYR Zornitza Stark Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.62 TYR Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Nystagmus is a feature.
Congenital nystagmus v0.62 TYRP1 Zornitza Stark commented on gene: TYRP1: Well established gene-disease association, nystagmus is a feature.
Congenital nystagmus v0.62 TYRP1 Zornitza Stark Marked gene: TYRP1 as ready
Congenital nystagmus v0.62 TYRP1 Zornitza Stark Gene: tyrp1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.62 TYRP1 Zornitza Stark Phenotypes for gene: TYRP1 were changed from Oculocutaneous Albinism; Albinism, oculocutaneous, type III to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747
Congenital nystagmus v0.61 TYRP1 Zornitza Stark Publications for gene: TYRP1 were set to
Congenital nystagmus v0.60 USP45 Zornitza Stark Marked gene: USP45 as ready
Congenital nystagmus v0.60 USP45 Zornitza Stark Gene: usp45 has been classified as Green List (High Evidence).
Congenital nystagmus v0.60 USP45 Zornitza Stark Phenotypes for gene: USP45 were changed from to Leber congenital amaurosis; retinal dystrophy
Congenital nystagmus v0.59 USP45 Zornitza Stark Publications for gene: USP45 were set to
Congenital nystagmus v0.58 USP45 Zornitza Stark Mode of inheritance for gene: USP45 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.57 USP45 Zornitza Stark reviewed gene: USP45: Rating: GREEN; Mode of pathogenicity: None; Publications: 30573563; Phenotypes: Leber congenital amaurosis, retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.57 HPS6 Zornitza Stark Marked gene: HPS6 as ready
Congenital nystagmus v0.57 HPS6 Zornitza Stark Gene: hps6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.57 HPS6 Zornitza Stark Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6 614075 AR to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558
Congenital nystagmus v0.56 HPS6 Zornitza Stark Publications for gene: HPS6 were set to
Congenital nystagmus v0.55 HPS6 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.55 HPS5 Zornitza Stark Marked gene: HPS5 as ready
Congenital nystagmus v0.55 HPS5 Zornitza Stark Gene: hps5 has been classified as Green List (High Evidence).
Congenital nystagmus v0.55 HPS5 Zornitza Stark Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)
Congenital nystagmus v0.54 HPS5 Zornitza Stark Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950
Congenital nystagmus v0.53 HPS5 Zornitza Stark reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.53 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Congenital nystagmus v0.53 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Congenital nystagmus v0.53 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Congenital nystagmus v0.52 HPS4 Zornitza Stark Publications for gene: HPS4 were set to 11836498; 15108212
Congenital nystagmus v0.51 HPS4 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.51 HPS3 Zornitza Stark Marked gene: HPS3 as ready
Congenital nystagmus v0.51 HPS3 Zornitza Stark Gene: hps3 has been classified as Green List (High Evidence).
Congenital nystagmus v0.51 HPS3 Zornitza Stark Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555
Congenital nystagmus v0.50 HPS3 Zornitza Stark Publications for gene: HPS3 were set to 11455388; 11590544
Congenital nystagmus v0.49 HPS3 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.49 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Congenital nystagmus v0.49 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.49 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Congenital nystagmus v0.48 HPS1 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Nystagmus is a feature.
Congenital nystagmus v0.48 GUCY2D Zornitza Stark Marked gene: GUCY2D as ready
Congenital nystagmus v0.48 GUCY2D Zornitza Stark Gene: gucy2d has been classified as Green List (High Evidence).
Congenital nystagmus v0.48 GUCY2D Zornitza Stark Phenotypes for gene: GUCY2D were changed from to Leber congenital amaurosis 1, MIM# 204000
Congenital nystagmus v0.47 GUCY2D Zornitza Stark Publications for gene: GUCY2D were set to
Congenital nystagmus v0.46 GUCY2D Zornitza Stark Mode of inheritance for gene: GUCY2D was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.45 GUCY2D Zornitza Stark reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 8944027, 16505055, 23035049; Phenotypes: Leber congenital amaurosis 1, MIM# 204000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Stationary Night Blindness v0.13 GRM6 Zornitza Stark Marked gene: GRM6 as ready
Congenital Stationary Night Blindness v0.13 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.13 GRM6 Zornitza Stark Publications for gene: GRM6 were set to
Congenital Stationary Night Blindness v0.12 GRM6 Zornitza Stark reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9467 GRM6 Zornitza Stark Marked gene: GRM6 as ready
Mendeliome v0.9467 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Mendeliome v0.9467 GRM6 Zornitza Stark Phenotypes for gene: GRM6 were changed from to Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270
Mendeliome v0.9466 GRM6 Zornitza Stark Publications for gene: GRM6 were set to
Mendeliome v0.9465 GRM6 Zornitza Stark Mode of inheritance for gene: GRM6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9464 GRM6 Zornitza Stark reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.45 GRM6 Zornitza Stark Marked gene: GRM6 as ready
Congenital nystagmus v0.45 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Congenital nystagmus v0.45 GRM6 Zornitza Stark Publications for gene: GRM6 were set to
Congenital nystagmus v0.44 GRM6 Zornitza Stark reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.44 NYX Ain Roesley edited their review of gene: NYX: Changed publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036
Congenital nystagmus v0.44 NYX Ain Roesley edited their review of gene: NYX: Changed publications: 11062471, 11062472, 16670814, 23714322, 34064005
Congenital nystagmus v0.44 NYX Ain Roesley reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.9464 GRK1 Zornitza Stark Marked gene: GRK1 as ready
Mendeliome v0.9464 GRK1 Zornitza Stark Gene: grk1 has been classified as Green List (High Evidence).
Mendeliome v0.9464 GRK1 Zornitza Stark Phenotypes for gene: GRK1 were changed from to Oguchi disease-2, 613411
Mendeliome v0.9463 GRK1 Zornitza Stark Publications for gene: GRK1 were set to
Mendeliome v0.9462 GRK1 Zornitza Stark Mode of inheritance for gene: GRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9461 GRK1 Zornitza Stark reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17070587, 33252155; Phenotypes: Oguchi disease-2, 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Stationary Night Blindness v0.12 GRK1 Zornitza Stark Marked gene: GRK1 as ready
Congenital Stationary Night Blindness v0.12 GRK1 Zornitza Stark Gene: grk1 has been classified as Green List (High Evidence).
Congenital Stationary Night Blindness v0.12 GRK1 Zornitza Stark Publications for gene: GRK1 were set to
Congenital Stationary Night Blindness v0.11 GRK1 Zornitza Stark reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33252155; Phenotypes: Oguchi disease-2 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.44 GRK1 Zornitza Stark Marked gene: GRK1 as ready
Congenital nystagmus v0.44 GRK1 Zornitza Stark Gene: grk1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.44 GRK1 Zornitza Stark Classified gene: GRK1 as Red List (low evidence)
Congenital nystagmus v0.44 GRK1 Zornitza Stark Gene: grk1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.43 GRK1 Zornitza Stark reviewed gene: GRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oguchi disease-2, MIM# 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9461 GPR179 Zornitza Stark Marked gene: GPR179 as ready
Mendeliome v0.9461 GPR179 Zornitza Stark Gene: gpr179 has been classified as Green List (High Evidence).
Mendeliome v0.9461 GPR179 Zornitza Stark Phenotypes for gene: GPR179 were changed from to Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565)
Mendeliome v0.9460 GPR179 Zornitza Stark Publications for gene: GPR179 were set to
Mendeliome v0.9459 GPR179 Zornitza Stark Mode of inheritance for gene: GPR179 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9458 GPR179 Zornitza Stark reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.43 GPR179 Zornitza Stark Marked gene: GPR179 as ready
Congenital nystagmus v0.43 GPR179 Zornitza Stark Gene: gpr179 has been classified as Green List (High Evidence).
Congenital nystagmus v0.43 GPR179 Zornitza Stark Publications for gene: GPR179 were set to
Congenital nystagmus v0.42 GPR179 Zornitza Stark reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.42 GPR143 Zornitza Stark Marked gene: GPR143 as ready
Congenital nystagmus v0.42 GPR143 Zornitza Stark Gene: gpr143 has been classified as Green List (High Evidence).
Congenital nystagmus v0.42 GPR143 Zornitza Stark Phenotypes for gene: GPR143 were changed from Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019; Nystagmus 6, congenital, X-linked, MIM# 300814
Congenital nystagmus v0.41 GPR143 Zornitza Stark Publications for gene: GPR143 were set to 21541274; 26061757; 26160353; 21423867
Congenital nystagmus v0.40 GPR143 Zornitza Stark Mode of inheritance for gene: GPR143 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.39 GPR143 Zornitza Stark changed review comment from: Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.

Well established gene-disease association.; to: Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.

Well established gene-disease association.

At least 3 families reported with isolated XL nystagmus.
Congenital nystagmus v0.39 GPR143 Zornitza Stark edited their review of gene: GPR143: Changed publications: 7647783, 9529334, 11793467, 17516023, 18523664, 19390656; Changed phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500, MONDO:0021019, Nystagmus 6, congenital, X-linked, MIM# 300814
Congenital nystagmus v0.39 GNB3 Zornitza Stark Marked gene: GNB3 as ready
Congenital nystagmus v0.39 GNB3 Zornitza Stark Gene: gnb3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.39 GNB3 Zornitza Stark Publications for gene: GNB3 were set to
Congenital nystagmus v0.38 GNB3 Zornitza Stark Classified gene: GNB3 as Red List (low evidence)
Congenital nystagmus v0.38 GNB3 Zornitza Stark Gene: gnb3 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.37 GNB3 Zornitza Stark edited their review of gene: GNB3: Changed rating: RED
Congenital nystagmus v0.37 GNB3 Zornitza Stark changed review comment from: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.; to: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.

However, patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia.
Mendeliome v0.9458 GNAT2 Zornitza Stark Marked gene: GNAT2 as ready
Mendeliome v0.9458 GNAT2 Zornitza Stark Gene: gnat2 has been classified as Green List (High Evidence).
Mendeliome v0.9458 GNAT2 Zornitza Stark Phenotypes for gene: GNAT2 were changed from to Achromatopsia 4, MIM#613856
Mendeliome v0.9457 GNAT2 Zornitza Stark Publications for gene: GNAT2 were set to
Mendeliome v0.9456 GNAT2 Zornitza Stark Mode of inheritance for gene: GNAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9455 GNAT2 Zornitza Stark reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32203983, 17251445; Phenotypes: Achromatopsia 4 MIM#613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.37 GNAT2 Zornitza Stark reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital nystagmus v0.37 GNAT2 Zornitza Stark Marked gene: GNAT2 as ready
Congenital nystagmus v0.37 GNAT2 Zornitza Stark Gene: gnat2 has been classified as Green List (High Evidence).
Congenital nystagmus v0.37 GNAT1 Zornitza Stark Marked gene: GNAT1 as ready
Congenital nystagmus v0.37 GNAT1 Zornitza Stark Gene: gnat1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.37 GNAT1 Zornitza Stark Phenotypes for gene: GNAT1 were changed from Night blindness, congenital stationary, autosomal dominant 3, 610444 to Night blindness, congenital stationary, autosomal dominant 3, IM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389
Congenital nystagmus v0.36 GNAT1 Zornitza Stark Classified gene: GNAT1 as Red List (low evidence)
Congenital nystagmus v0.36 GNAT1 Zornitza Stark Gene: gnat1 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.35 GNAT1 Zornitza Stark reviewed gene: GNAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, IM# 610444, Night blindness, congenital stationary, type 1G, MIM# 616389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.35 GDF6 Zornitza Stark edited their review of gene: GDF6: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.35 GDF6 Zornitza Stark Marked gene: GDF6 as ready
Congenital nystagmus v0.35 GDF6 Zornitza Stark Gene: gdf6 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.35 GDF6 Zornitza Stark Phenotypes for gene: GDF6 were changed from to Leber congenital amaurosis 17, MIM# 615360
Congenital nystagmus v0.34 GDF6 Zornitza Stark Publications for gene: GDF6 were set to
Congenital nystagmus v0.33 GDF6 Zornitza Stark Mode of inheritance for gene: GDF6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.32 GDF6 Zornitza Stark Classified gene: GDF6 as Red List (low evidence)
Congenital nystagmus v0.32 GDF6 Zornitza Stark Gene: gdf6 has been classified as Red List (Low Evidence).
Congenital nystagmus v0.31 GDF6 Zornitza Stark reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: 23307924; Phenotypes: Leber congenital amaurosis 17, MIM# 615360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.31 NMNAT1 Ain Roesley reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30004997, 33668384, 33308271, 33308271, 32150116, 22842230, 22842231, 22842227, 29184169; Phenotypes: Leber congenital amaurosis 9 MIM#608553, Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.31 PAX6 Belinda Chong reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15629294, 9931324, 8162071]; Phenotypes: Foveal hypoplasia 1 136520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.9455 XBP1 Lucy Spencer reviewed gene: XBP1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32294597, 33325615; Phenotypes: ; Mode of inheritance: None
Congenital Stationary Night Blindness v0.11 LRIT3 Ain Roesley reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F MIM#615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.31 LRIT3 Ain Roesley edited their review of gene: LRIT3: Changed publications: 23246293, 27428514
Congenital nystagmus v0.31 LRIT3 Ain Roesley changed review comment from: 2x unrelated families, no nystagmus reported; to: PMID:27428514;
2x unrelated families, no nystagmus reported

PMID:27428514;
1x with Schubert-Bornschein congenital stationary night blindness. Diagnostic criteria includes nystagmus though age of onset not specified
Congenital nystagmus v0.31 LRIT3 Ain Roesley reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: None; Publications: 23246293; Phenotypes: Night blindness, congenital stationary (complete), 1F MIM#615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.31 LRAT Ain Roesley 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; Current diagnostic: yes
Fetal anomalies v0.22 Zornitza Stark removed gene:FRMD7 from the panel
Congenital nystagmus v0.31 FRMD7 Zornitza Stark Marked gene: FRMD7 as ready
Congenital nystagmus v0.31 FRMD7 Zornitza Stark Gene: frmd7 has been classified as Green List (High Evidence).
Congenital nystagmus v0.31 FRMD7 Zornitza Stark Phenotypes for gene: FRMD7 were changed from Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 to Nystagmus 1, congenital, X-linked, MIM# 310700; Nystagmus, infantile periodic alternating, X-linked, MIM# 310700
Congenital nystagmus v0.30 FRMD7 Zornitza Stark Mode of inheritance for gene: FRMD7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.29 FRMD7 Zornitza Stark reviewed gene: FRMD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17013395, 17962394, 21303855; Phenotypes: Nystagmus 1, congenital, X-linked, MIM# 310700, Nystagmus, infantile periodic alternating, X-linked, MIM# 310700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Congenital nystagmus v0.29 CRX Zornitza Stark Marked gene: CRX as ready
Congenital nystagmus v0.29 CRX Zornitza Stark Gene: crx has been classified as Green List (High Evidence).
Congenital nystagmus v0.29 CRX Zornitza Stark Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829
Congenital nystagmus v0.28 CRX Zornitza Stark Publications for gene: CRX were set to
Congenital nystagmus v0.27 CRX Zornitza Stark Mode of inheritance for gene: CRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.26 CRX Zornitza Stark reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12208271, 9931337, 9537410, 29568065, 27427859, 25270190; Phenotypes: Leber congenital amaurosis 7, MIM# 613829; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital nystagmus v0.26 CRB1 Zornitza Stark Marked gene: CRB1 as ready
Congenital nystagmus v0.26 CRB1 Zornitza Stark Gene: crb1 has been classified as Green List (High Evidence).
Congenital nystagmus v0.26 CRB1 Zornitza Stark Phenotypes for gene: CRB1 were changed from to Leber congenital amaurosis 8, MIM# 613835
Congenital nystagmus v0.25 CRB1 Zornitza Stark Publications for gene: CRB1 were set to
Congenital nystagmus v0.24 CRB1 Zornitza Stark Mode of inheritance for gene: CRB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.23 CRB1 Zornitza Stark reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11231775, 11389483, 16543197; Phenotypes: Leber congenital amaurosis 8, MIM# 613835; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital nystagmus v0.23 KCNJ13 Ain Roesley reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: None; Publications: 27203561, 25475713, 21763485; Phenotypes: Leber congenital amaurosis 16 MIM#614186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v0.23 IMPDH1 Ain Roesley reviewed gene: IMPDH1: Rating: RED; Mode of pathogenicity: None; Publications: 16384941; Phenotypes: Leber congenital amaurosis 11 MIM#613837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy_CMT - isolated v1.10 JAG1 Zornitza Stark changed review comment from: Two unrelated families reported with CMT type 2. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature; to: Two unrelated families reported with CMT type 2, 9 affected individuals. Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Pre-existing rat model.
Sources: Literature
Hereditary Neuropathy_CMT - isolated v1.10 JAG1 Zornitza Stark edited their review of gene: JAG1: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2HH 619574, Peripheral neuropathy
Disorders of immune dysregulation v0.99 DEF6 Zornitza Stark Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity
Disorders of immune dysregulation v0.98 DEF6 Zornitza Stark Publications for gene: DEF6 were set to 31308374
Disorders of immune dysregulation v0.97 DEF6 Zornitza Stark Classified gene: DEF6 as Green List (high evidence)
Disorders of immune dysregulation v0.97 DEF6 Zornitza Stark Gene: def6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.96 DEF6 Zornitza Stark edited their review of gene: DEF6: Added comment: Additional family reported with 4 affected siblings.; Changed rating: GREEN; Changed publications: 31308374, 32562707; Changed phenotypes: Immunodeficiency 87 and autoimmunity, MIM# 619573, Systemic autoimmunity
Mendeliome v0.9455 DEF6 Zornitza Stark Phenotypes for gene: DEF6 were changed from Systemic autoimmunity to Immunodeficiency 87 and autoimmunity, MIM# 619573; Systemic autoimmunity
Mendeliome v0.9454 DEF6 Zornitza Stark Publications for gene: DEF6 were set to 31308374
Mendeliome v0.9453 DEF6 Zornitza Stark Classified gene: DEF6 as Green List (high evidence)
Mendeliome v0.9453 DEF6 Zornitza Stark Gene: def6 has been classified as Green List (High Evidence).
Mendeliome v0.9452 DEF6 Zornitza Stark edited their review of gene: DEF6: Added comment: Additional family reported with 4 affected siblings.; Changed rating: GREEN; Changed publications: 31308374, 32562707; Changed phenotypes: Immunodeficiency 87 and autoimmunity, MIM# 619573, Systemic autoimmunity
Fetal anomalies v0.17 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Fetal anomalies v0.17 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Fetal anomalies v0.17 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Fetal anomalies v0.16 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26475292; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.16 ABHD5 Zornitza Stark Publications for gene: ABHD5 were set to
Fetal anomalies v0.15 ABHD5 Zornitza Stark edited their review of gene: ABHD5: Changed publications: 30795549
Fetal anomalies v0.15 ABHD5 Zornitza Stark Marked gene: ABHD5 as ready
Fetal anomalies v0.15 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.15 ABHD5 Zornitza Stark Phenotypes for gene: ABHD5 were changed from CHANARIN-DORFMAN SYNDROME to Chanarin-Dorfman syndrome, MIM# 275630
Fetal anomalies v0.14 ABHD5 Zornitza Stark Classified gene: ABHD5 as Amber List (moderate evidence)
Fetal anomalies v0.14 ABHD5 Zornitza Stark Gene: abhd5 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.13 ABHD5 Zornitza Stark reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Chanarin-Dorfman syndrome, MIM# 275630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.13 ABCC9 Zornitza Stark Marked gene: ABCC9 as ready
Fetal anomalies v0.13 ABCC9 Zornitza Stark Gene: abcc9 has been classified as Green List (High Evidence).
Fetal anomalies v0.13 ABCC9 Zornitza Stark Phenotypes for gene: ABCC9 were changed from CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA to Hypertrichotic osteochondrodysplasia, MIM# 239850
Fetal anomalies v0.12 ABCC9 Zornitza Stark Mode of inheritance for gene: ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.11 ABCC9 Zornitza Stark reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.11 ABCC6 Zornitza Stark Marked gene: ABCC6 as ready
Fetal anomalies v0.11 ABCC6 Zornitza Stark Gene: abcc6 has been classified as Green List (High Evidence).
Fetal anomalies v0.11 ABCC6 Zornitza Stark Phenotypes for gene: ABCC6 were changed from ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 to Arterial calcification, generalized, of infancy, 2, MIM# 614473
Fetal anomalies v0.10 ABCC6 Zornitza Stark reviewed gene: ABCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM# 614473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.10 ABCA12 Zornitza Stark Marked gene: ABCA12 as ready
Fetal anomalies v0.10 ABCA12 Zornitza Stark Gene: abca12 has been classified as Green List (High Evidence).
Fetal anomalies v0.10 ABCA12 Zornitza Stark Phenotypes for gene: ABCA12 were changed from Ichthyosis, congenital, autosomal recessive 242500 to Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500
Fetal anomalies v0.9 ABCA12 Zornitza Stark reviewed gene: ABCA12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.9 AAAS Zornitza Stark Marked gene: AAAS as ready
Fetal anomalies v0.9 AAAS Zornitza Stark Gene: aaas has been classified as Red List (Low Evidence).
Fetal anomalies v0.9 AAAS Zornitza Stark Classified gene: AAAS as Red List (low evidence)
Fetal anomalies v0.9 AAAS Zornitza Stark Gene: aaas has been classified as Red List (Low Evidence).
Fetal anomalies v0.8 AAAS Zornitza Stark reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 ZNF711 Zornitza Stark gene: ZNF711 was added
gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED
Fetal anomalies v0.0 ZNF3 Zornitza Stark gene: ZNF3 was added
gene: ZNF3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF3 were set to 32732226
Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft
Fetal anomalies v0.0 ZFYVE26 Zornitza Stark gene: ZFYVE26 was added
gene: ZFYVE26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15
Fetal anomalies v0.0 ZDHHC9 Zornitza Stark gene: ZDHHC9 was added
gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
Fetal anomalies v0.0 XPC Zornitza Stark gene: XPC was added
gene: XPC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C
Fetal anomalies v0.0 XPA Zornitza Stark gene: XPA was added
gene: XPA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A
Fetal anomalies v0.0 WDR91 Zornitza Stark gene: WDR91 was added
gene: WDR91 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR91 were set to 32732226; 34028500; 28860274
Phenotypes for gene: WDR91 were set to Hydrocephaly; Hygroma
Fetal anomalies v0.0 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
Fetal anomalies v0.0 WDR11 Zornitza Stark gene: WDR11 was added
gene: WDR11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME
Fetal anomalies v0.0 WASHC5 Zornitza Stark gene: WASHC5 was added
gene: WASHC5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: WASHC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WASHC5 were set to Ritscher-Schinzel syndrome 1 220210; Spastic paraplegia 8, autosomal dominant 603563
Fetal anomalies v0.0 WAC Zornitza Stark gene: WAC was added
gene: WAC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY; WAC syndrome
Fetal anomalies v0.0 UVSSA Zornitza Stark gene: UVSSA was added
gene: UVSSA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME
Fetal anomalies v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia
Fetal anomalies v0.0 UROC1 Zornitza Stark gene: UROC1 was added
gene: UROC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY
Fetal anomalies v0.0 UPF3B Zornitza Stark gene: UPF3B was added
gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
Fetal anomalies v0.0 UNC80 Zornitza Stark gene: UNC80 was added
gene: UNC80 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Fetal anomalies v0.0 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I
Fetal anomalies v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly,
Fetal anomalies v0.0 UFC1 Zornitza Stark gene: UFC1 was added
gene: UFC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly
Fetal anomalies v0.0 UBE3A Zornitza Stark gene: UBE3A was added
gene: UBE3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME
Fetal anomalies v0.0 UBE2A Zornitza Stark gene: UBE2A was added
gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION
Fetal anomalies v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy
Fetal anomalies v0.0 TYRP1 Zornitza Stark gene: TYRP1 was added
gene: TYRP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3
Fetal anomalies v0.0 TYR Zornitza Stark gene: TYR was added
gene: TYR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1
Fetal anomalies v0.0 TUSC3 Zornitza Stark gene: TUSC3 was added
gene: TUSC3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7
Fetal anomalies v0.0 TTC19 Zornitza Stark gene: TTC19 was added
gene: TTC19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY
Fetal anomalies v0.0 TSPAN7 Zornitza Stark gene: TSPAN7 was added
gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58
Fetal anomalies v0.0 TSHR Zornitza Stark gene: TSHR was added
gene: TSHR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TSHR were set to HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
Fetal anomalies v0.0 TSHB Zornitza Stark gene: TSHB was added
gene: TSHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Fetal anomalies v0.0 TRPM1 Zornitza Stark gene: TRPM1 was added
gene: TRPM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
Fetal anomalies v0.0 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
Fetal anomalies v0.0 TPP1 Zornitza Stark gene: TPP1 was added
gene: TPP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
Fetal anomalies v0.0 TOGARAM1 Zornitza Stark gene: TOGARAM1 was added
gene: TOGARAM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOGARAM1 were set to 32747439
Phenotypes for gene: TOGARAM1 were set to Cerebral dysgenesis; Cleft of the lip and palate; Hydrocephalus; Microphthalmia
Fetal anomalies v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TNXB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Vesicoureteral reflux 8 615963; Ehlers-Danlos syndrome due to tenascin X deficiency 606408
Fetal anomalies v0.0 TNFRSF11B Zornitza Stark gene: TNFRSF11B was added
gene: TNFRSF11B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11B were set to Paget disease 239000
Fetal anomalies v0.0 TMPRSS6 Zornitza Stark gene: TMPRSS6 was added
gene: TMPRSS6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA
Fetal anomalies v0.0 TMEM70 Zornitza Stark gene: TMEM70 was added
gene: TMEM70 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Fetal anomalies v0.0 TMEM126B Zornitza Stark gene: TMEM126B was added
gene: TMEM126B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency
Fetal anomalies v0.0 TK2 Zornitza Stark gene: TK2 was added
gene: TK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
Fetal anomalies v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME
Fetal anomalies v0.0 THAP1 Zornitza Stark gene: THAP1 was added
gene: THAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION
Fetal anomalies v0.0 TH Zornitza Stark gene: TH was added
gene: TH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA
Fetal anomalies v0.0 TGFB1 Zornitza Stark gene: TGFB1 was added
gene: TGFB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE
Fetal anomalies v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4
Fetal anomalies v0.0 TEK Zornitza Stark gene: TEK was added
gene: TEK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
Fetal anomalies v0.0 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency
Fetal anomalies v0.0 TBXAS1 Zornitza Stark gene: TBXAS1 was added
gene: TBXAS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME
Fetal anomalies v0.0 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2
Fetal anomalies v0.0 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Fetal anomalies v0.0 SYP Zornitza Stark gene: SYP was added
gene: SYP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED
Fetal anomalies v0.0 SYNGAP1 Zornitza Stark gene: SYNGAP1 was added
gene: SYNGAP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SYNGAP1 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5; EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to LEIGH SYNDROME; COMPLEX IV DEFICIENCY
Fetal anomalies v0.0 STXBP1 Zornitza Stark gene: STXBP1 was added
gene: STXBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER; EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4
Fetal anomalies v0.0 STS Zornitza Stark gene: STS was added
gene: STS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED
Fetal anomalies v0.0 STAT1 Zornitza Stark gene: STAT1 was added
gene: STAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: STAT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: STAT1 were set to STAT1 DEFICIENCY COMPLETE; FAMILIAL CANDIDIASIS TYPE 7; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE
Fetal anomalies v0.0 STAG1 Zornitza Stark gene: STAG1 was added
gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability
Fetal anomalies v0.0 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
Fetal anomalies v0.0 SPTBN5 Zornitza Stark gene: SPTBN5 was added
gene: SPTBN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SPTBN5 was set to Unknown
Publications for gene: SPTBN5 were set to 28007035; 32732226
Phenotypes for gene: SPTBN5 were set to Sacral agenesis; Multicystic kidney; Oligohydramnios
Fetal anomalies v0.0 SPTBN2 Zornitza Stark gene: SPTBN2 was added
gene: SPTBN2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 28636205; 29196973
Phenotypes for gene: SPTBN2 were set to Infantile ataxia with oculomotor and pyramidal signs; SCA14; Spinocerebellar ataxia, autosomal recessive 14, 615386
Fetal anomalies v0.0 SPRY4 Zornitza Stark gene: SPRY4 was added
gene: SPRY4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SPRY4 was set to Unknown
Phenotypes for gene: SPRY4 were set to Hypogonadotropic hypogonadism 17 with or without anosmia 615266
Fetal anomalies v0.0 SPR Zornitza Stark gene: SPR was added
gene: SPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Fetal anomalies v0.0 SP110 Zornitza Stark gene: SP110 was added
gene: SP110 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency 235550
Fetal anomalies v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA
Fetal anomalies v0.0 SLC9A6 Zornitza Stark gene: SLC9A6 was added
gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE
Fetal anomalies v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME
Fetal anomalies v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618
Fetal anomalies v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE
Fetal anomalies v0.0 SLC6A1 Zornitza Stark gene: SLC6A1 was added
gene: SLC6A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES
Fetal anomalies v0.0 SLC5A5 Zornitza Stark gene: SLC5A5 was added
gene: SLC5A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I
Fetal anomalies v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME
Fetal anomalies v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 22740598; 24253200
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Fetal anomalies v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 16636648; 10545938; 11131345
Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES
Fetal anomalies v0.0 SLC4A11 Zornitza Stark gene: SLC4A11 was added
gene: SLC4A11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
Fetal anomalies v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR
Fetal anomalies v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION
Fetal anomalies v0.0 SLC39A13 Zornitza Stark gene: SLC39A13 was added
gene: SLC39A13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION; EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA
Fetal anomalies v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib 232220
Fetal anomalies v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME
Fetal anomalies v0.0 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 2; GLUT1 DEFICIENCY SYNDROME TYPE 1
Fetal anomalies v0.0 SLC25A26 Zornitza Stark gene: SLC25A26 was added
gene: SLC25A26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
Fetal anomalies v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
Fetal anomalies v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY
Fetal anomalies v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2
Fetal anomalies v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2
Fetal anomalies v0.0 SIX1 Zornitza Stark gene: SIX1 was added
gene: SIX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23
Fetal anomalies v0.0 SIM1 Zornitza Stark gene: SIM1 was added
gene: SIM1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SIM1 were set to 23778136; 23778139; 28472148
Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features
Fetal anomalies v0.0 SIK1 Zornitza Stark gene: SIK1 was added
gene: SIK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM
Fetal anomalies v0.0 SHROOM4 Zornitza Stark gene: SHROOM4 was added
gene: SHROOM4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SHROOM4 were set to 32565546
Phenotypes for gene: SHROOM4 were set to Stocco dos Santos X-linked mental retardation syndrome, 300434
Fetal anomalies v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D 608099
Fetal anomalies v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771
Fetal anomalies v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY
Fetal anomalies v0.0 SDHA Zornitza Stark gene: SDHA was added
gene: SDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to LEIGH SYNDROME
Fetal anomalies v0.0 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Fetal anomalies v0.0 SCN8A Zornitza Stark gene: SCN8A was added
gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN8A were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
Fetal anomalies v0.0 SCN7A Zornitza Stark gene: SCN7A was added
gene: SCN7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCN7A were set to 32732226
Phenotypes for gene: SCN7A were set to Holoprosencephaly
Fetal anomalies v0.0 SCN1B Zornitza Stark gene: SCN1B was added
gene: SCN1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1; BRUGADA SYNDROME 5
Fetal anomalies v0.0 SCN1A Zornitza Stark gene: SCN1A was added
gene: SCN1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN1A were set to 29543227; 32928894
Phenotypes for gene: SCN1A were set to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita
Fetal anomalies v0.0 SCN11A Zornitza Stark gene: SCN11A was added
gene: SCN11A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN
Fetal anomalies v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
Fetal anomalies v0.0 RSPO4 Zornitza Stark gene: RSPO4 was added
gene: RSPO4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA
Fetal anomalies v0.0 RSPH3 Zornitza Stark gene: RSPH3 was added
gene: RSPH3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPH3 were set to 30166424
Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
Fetal anomalies v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPH1 were set to 30166424
Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
Fetal anomalies v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to CONE-ROD DYSTROPHY 13; LEBER CONGENITAL AMAUROSIS 6
Fetal anomalies v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.0 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to ?Fanconi anemia, complementation group W, OMIM:617784
Fetal anomalies v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
Fetal anomalies v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RAB39B were set to 29152164; 20159109
Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS
Fetal anomalies v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C
Fetal anomalies v0.0 PYGL Zornitza Stark gene: PYGL was added
gene: PYGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI
Fetal anomalies v0.0 PURA Zornitza Stark gene: PURA was added
gene: PURA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; COWDEN DISEASE; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS; MACROCEPHALY/AUTISM SYNDROME
Fetal anomalies v0.0 PTCHD1 Zornitza Stark gene: PTCHD1 was added
gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PTCHD1 were set to AUTISM/ID
Fetal anomalies v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME
Fetal anomalies v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PRX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900
Fetal anomalies v0.0 PRSS12 Zornitza Stark gene: PRSS12 was added
gene: PRSS12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1
Fetal anomalies v0.0 PRRT2 Zornitza Stark gene: PRRT2 was added
gene: PRRT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION; BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
Fetal anomalies v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to DEAFNESS X-LINKED TYPE 1; PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5; ARTS SYNDROME
Fetal anomalies v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY
Fetal anomalies v0.0 PROKR2 Zornitza Stark gene: PROKR2 was added
gene: PROKR2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PROKR2 were set to 17054399
Phenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia 244200
Fetal anomalies v0.0 PROK2 Zornitza Stark gene: PROK2 was added
gene: PROK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PROK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PROK2 were set to 17054399; 30712880
Phenotypes for gene: PROK2 were set to Hypogonadotropic hypogonadism 4 with or without anosmia, 610628
Fetal anomalies v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII
Fetal anomalies v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1
Fetal anomalies v0.0 PPM1D Zornitza Stark gene: PPM1D was added
gene: PPM1D was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPM1D were set to PPM1D syndrome
Fetal anomalies v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger
Fetal anomalies v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A
Fetal anomalies v0.0 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Fetal anomalies v0.0 POC1B Zornitza Stark gene: POC1B was added
gene: POC1B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
Fetal anomalies v0.0 PNPT1 Zornitza Stark gene: PNPT1 was added
gene: PNPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER; HEARING LOSS
Fetal anomalies v0.0 PMS2 Zornitza Stark gene: PMS2 was added
gene: PMS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME
Fetal anomalies v0.0 PMP22 Zornitza Stark gene: PMP22 was added
gene: PMP22 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PMP22 were set to Neuropathy, recurrent, with pressure palsies 162500; Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 1A 118220; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 1E 118300; Neuropathy, inflammatory demyelinating 139393
Fetal anomalies v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1; SPASTIC PARAPLEGIA X-LINKED TYPE 2
Fetal anomalies v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3
Fetal anomalies v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1
Fetal anomalies v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
Fetal anomalies v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3
Fetal anomalies v0.0 PDHX Zornitza Stark gene: PDHX was added
gene: PDHX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY
Fetal anomalies v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 26865159
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111
Fetal anomalies v0.0 PDE6G Zornitza Stark gene: PDE6G was added
gene: PDE6G was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57
Fetal anomalies v0.0 PCDH19 Zornitza Stark gene: PCDH19 was added
gene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9
Fetal anomalies v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA
Fetal anomalies v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA
Fetal anomalies v0.0 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D
Fetal anomalies v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY
Fetal anomalies v0.0 PAX9 Zornitza Stark gene: PAX9 was added
gene: PAX9 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3
Fetal anomalies v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to PHENYLKETONURIA; NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA
Fetal anomalies v0.0 OXCT1 Zornitza Stark gene: OXCT1 was added
gene: OXCT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY
Fetal anomalies v0.0 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome
Fetal anomalies v0.0 OTOGL Zornitza Stark gene: OTOGL was added
gene: OTOGL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS
Fetal anomalies v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Fetal anomalies v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
Fetal anomalies v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
Fetal anomalies v0.0 NT5C3A Zornitza Stark gene: NT5C3A was added
gene: NT5C3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
Fetal anomalies v0.0 NT5C2 Zornitza Stark gene: NT5C2 was added
gene: NT5C2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, autosomal recessive 613162
Fetal anomalies v0.0 NSMF Zornitza Stark gene: NSMF was added
gene: NSMF was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NSMF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSMF were set to Hypogonadotropic hypogonadism 9 with or without anosmia 614838
Fetal anomalies v0.0 NR2F1 Zornitza Stark gene: NR2F1 was added
gene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME
Fetal anomalies v0.0 NPHS2 Zornitza Stark gene: NPHS2 was added
gene: NPHS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2
Fetal anomalies v0.0 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS
Fetal anomalies v0.0 NKX2-1 Zornitza Stark gene: NKX2-1 was added
gene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA; CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
Fetal anomalies v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION
Fetal anomalies v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
Fetal anomalies v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY
Fetal anomalies v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME; LEIGH SYNDROME DUP
Fetal anomalies v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME
Fetal anomalies v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Fetal anomalies v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Fetal anomalies v0.0 MYT1L Zornitza Stark gene: MYT1L was added
gene: MYT1L was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYT1L were set to MYT1L syndrome
Fetal anomalies v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B
Fetal anomalies v0.0 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE
Fetal anomalies v0.0 MYO5A Zornitza Stark gene: MYO5A was added
gene: MYO5A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to GRISCELLI SYNDROME TYPE 3; ELEJALDE SYNDROME
Fetal anomalies v0.0 MYBPC2 Zornitza Stark gene: MYBPC2 was added
gene: MYBPC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC2 were set to 32732226
Phenotypes for gene: MYBPC2 were set to Hydrops; Hygroma; Fetal akinesia; Multiple pterygium
Fetal anomalies v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT
Fetal anomalies v0.0 MT-TP Zornitza Stark gene: MT-TP was added
gene: MT-TP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF
Fetal anomalies v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE
Fetal anomalies v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G
Fetal anomalies v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Fetal anomalies v0.0 MSH6 Zornitza Stark gene: MSH6 was added
gene: MSH6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.0 MSH2 Zornitza Stark gene: MSH2 was added
gene: MSH2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome; Mismatch repair cancer syndrome 276300
Fetal anomalies v0.0 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER
Fetal anomalies v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MPZ was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Roussy-Levy syndrome 180800; Charcot-Marie-Tooth disease, type 2I 607677; Charcot-Marie-Tooth disease, type 1B 118200; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, type 2J 607736; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Neuropathy, congenital hypomyelinating 605253
Fetal anomalies v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6
Fetal anomalies v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to MPI-CDG, MONDO:0011257; Congenital disorder of glycosylation, type Ib, OMIM:602579
Fetal anomalies v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB
Fetal anomalies v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA
Fetal anomalies v0.0 MLH1 Zornitza Stark gene: MLH1 was added
gene: MLH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome 276300
Fetal anomalies v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
Fetal anomalies v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A
Fetal anomalies v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS
Fetal anomalies v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MECP2 were set to 30712880
Phenotypes for gene: MECP2 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13; MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE; CHROMOSOME XQ28 DUPLICATION SYNDROME; ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS; RETT SYNDROME (RTT)[
Fetal anomalies v0.0 MCEE Zornitza Stark gene: MCEE was added
gene: MCEE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY
Fetal anomalies v0.0 MCCC2 Zornitza Stark gene: MCCC2 was added
gene: MCCC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY
Fetal anomalies v0.0 MCCC1 Zornitza Stark gene: MCCC1 was added
gene: MCCC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY
Fetal anomalies v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1
Fetal anomalies v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to BRUNNER SYNDROME
Fetal anomalies v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS
Fetal anomalies v0.0 LTBP2 Zornitza Stark gene: LTBP2 was added
gene: LTBP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA; PRIMARY CONGENITAL GLAUCOMA TYPE 3D
Fetal anomalies v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE
Fetal anomalies v0.0 LMOD1 Zornitza Stark gene: LMOD1 was added
gene: LMOD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LMOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD1 were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH)
Fetal anomalies v0.0 LEMD3 Zornitza Stark gene: LEMD3 was added
gene: LEMD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME; MELORHEOSTOSIS
Fetal anomalies v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LDB3 were set to 17394203
Phenotypes for gene: LDB3 were set to MYOPATHY MYOFIBRILLAR TYPE 4; LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C
Fetal anomalies v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: LAMP2 were set to DANON DISEASE
Fetal anomalies v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700
Fetal anomalies v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700
Fetal anomalies v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700
Fetal anomalies v0.0 KMT5B Zornitza Stark gene: KMT5B was added
gene: KMT5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT5B were set to KMT5B syndrome
Fetal anomalies v0.0 KMT2E Zornitza Stark gene: KMT2E was added
gene: KMT2E was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY; O'Donnell-Luria-Rodan syndrome, 618512
Fetal anomalies v0.0 KIT Zornitza Stark gene: KIT was added
gene: KIT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIT were set to HUMAN PIEBALDISM
Fetal anomalies v0.0 KISS1R Zornitza Stark gene: KISS1R was added
gene: KISS1R was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KISS1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KISS1R were set to Hypogonadotropic hypogonadism 8 with or without anosmia 614837
Fetal anomalies v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3; NEURONAL CEROID LIPOFUSCINOSIS
Fetal anomalies v0.0 KCNT1 Zornitza Stark gene: KCNT1 was added
gene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNT1 were set to SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Fetal anomalies v0.0 KCNQ3 Zornitza Stark gene: KCNQ3 was added
gene: KCNQ3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome
Fetal anomalies v0.0 KCNQ2 Zornitza Stark gene: KCNQ2 was added
gene: KCNQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ2 were set to 30712880
Phenotypes for gene: KCNQ2 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7; BENIGN NEONATAL EPILEPSY TYPE 1
Fetal anomalies v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1
Fetal anomalies v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM; DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL
Fetal anomalies v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE
Fetal anomalies v0.0 KCNE1 Zornitza Stark gene: KCNE1 was added
gene: KCNE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2
Fetal anomalies v0.0 KCNC1 Zornitza Stark gene: KCNC1 was added
gene: KCNC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7
Fetal anomalies v0.0 KCNB1 Zornitza Stark gene: KCNB1 was added
gene: KCNB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
Fetal anomalies v0.0 KCNA2 Zornitza Stark gene: KCNA2 was added
gene: KCNA2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.
Fetal anomalies v0.0 KBTBD13 Zornitza Stark gene: KBTBD13 was added
gene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6
Fetal anomalies v0.0 KARS Zornitza Stark gene: KARS was added
gene: KARS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to DEAFNESS, AUTOSOMAL RECESSIVE 89; CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
Fetal anomalies v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED
Fetal anomalies v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA
Fetal anomalies v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA
Fetal anomalies v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome; SPINOCEREBELLAR ATAXIA TYPE15
Fetal anomalies v0.0 ITGA7 Zornitza Stark gene: ITGA7 was added
gene: ITGA7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA7 were set to 9590299
Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY
Fetal anomalies v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1
Fetal anomalies v0.0 IL17RD Zornitza Stark gene: IL17RD was added
gene: IL17RD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: IL17RD was set to Unknown
Phenotypes for gene: IL17RD were set to Hypogonadotropic hypogonadism 18 with or without anosmia 615267
Fetal anomalies v0.0 IGSF1 Zornitza Stark gene: IGSF1 was added
gene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT
Fetal anomalies v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYDIN were set to 30712880
Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5
Fetal anomalies v0.0 HYAL1 Zornitza Stark gene: HYAL1 was added
gene: HYAL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9
Fetal anomalies v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
Fetal anomalies v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY; MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10
Fetal anomalies v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME
Fetal anomalies v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to LESCH-NYHAN SYNDROME; GOUT HPRT-RELATED
Fetal anomalies v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY
Fetal anomalies v0.0 HOXC13 Zornitza Stark gene: HOXC13 was added
gene: HOXC13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA
Fetal anomalies v0.0 HNRNPU Zornitza Stark gene: HNRNPU was added
gene: HNRNPU was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 HMGCS2 Zornitza Stark gene: HMGCS2 was added
gene: HMGCS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY
Fetal anomalies v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY
Fetal anomalies v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Fetal anomalies v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2
Fetal anomalies v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXA were set to 23035047
Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1
Fetal anomalies v0.0 HECW2 Zornitza Stark gene: HECW2 was added
gene: HECW2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HECW2 were set to HECW2
Fetal anomalies v0.0 HDAC4 Zornitza Stark gene: HDAC4 was added
gene: HDAC4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME
Fetal anomalies v0.0 HCN1 Zornitza Stark gene: HCN1 was added
gene: HCN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
Fetal anomalies v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 HACE1 Zornitza Stark gene: HACE1 was added
gene: HACE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to HACE1 related disorder
Fetal anomalies v0.0 H3F3A Zornitza Stark gene: H3F3A was added
gene: H3F3A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders
Fetal anomalies v0.0 H19 Zornitza Stark gene: H19 was added
gene: H19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: H19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H19 were set to Beckwith-Wiedemann syndrome 130650; Silver-Russell syndrome 180860; Wilms tumor 2 194071
Mode of pathogenicity for gene: H19 was set to Other
Fetal anomalies v0.0 GRM6 Zornitza Stark gene: GRM6 was added
gene: GRM6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
Fetal anomalies v0.0 GRIN2A Zornitza Stark gene: GRIN2A was added
gene: GRIN2A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS; LANDAU-KLEFFNER SYNDROME
Fetal anomalies v0.0 GRIK2 Zornitza Stark gene: GRIK2 was added
gene: GRIK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6
Fetal anomalies v0.0 GRIA3 Zornitza Stark gene: GRIA3 was added
gene: GRIA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94
Fetal anomalies v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
Fetal anomalies v0.0 GLUD1 Zornitza Stark gene: GLUD1 was added
gene: GLUD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Fetal anomalies v0.0 GLMN Zornitza Stark gene: GLMN was added
gene: GLMN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS
Fetal anomalies v0.0 GK Zornitza Stark gene: GK was added
gene: GK was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GK were set to 8651297
Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY
Fetal anomalies v0.0 GJB2 Zornitza Stark gene: GJB2 was added
gene: GJB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GJB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJB2 were set to 24346921; 23035047
Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A; BART-PUMPHREY SYNDROME; VOHWINKEL SYNDROME; ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME; PALMOPLANTAR KERATODERMA WITH DEAFNESS
Fetal anomalies v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to PITUITARY DWARFISM II
Fetal anomalies v0.0 GDI1 Zornitza Stark gene: GDI1 was added
gene: GDI1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41; MENTAL RETARDATION X-LINKED TYPE 48
Fetal anomalies v0.0 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF2 were set to 32618121
Phenotypes for gene: GDF2 were set to hydrops; hydrothorax; Lymphatic dysplasia
Fetal anomalies v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to DYSTONIA TYPE 5; GTP CYCLOHYDROLASE 1 DEFICIENCY
Fetal anomalies v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.0 GATAD2B Zornitza Stark gene: GATAD2B was added
gene: GATAD2B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID
Fetal anomalies v0.0 GAS8 Zornitza Stark gene: GAS8 was added
gene: GAS8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS8 were set to 30166424
Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
Fetal anomalies v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to GALACTOSEMIA
Fetal anomalies v0.0 GABRB3 Zornitza Stark gene: GABRB3 was added
gene: GABRB3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5; EPILEPTIC ENCEPHALOPATHIES
Fetal anomalies v0.0 FZD6 Zornitza Stark gene: FZD6 was added
gene: FZD6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10
Fetal anomalies v0.0 FUZ Zornitza Stark gene: FUZ was added
gene: FUZ was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FUZ was set to Unknown
Phenotypes for gene: FUZ were set to Neural tube defects 182940
Fetal anomalies v0.0 FTSJ1 Zornitza Stark gene: FTSJ1 was added
gene: FTSJ1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44
Fetal anomalies v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
Fetal anomalies v0.0 FRMD7 Zornitza Stark gene: FRMD7 was added
gene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED
Fetal anomalies v0.0 FOXP1 Zornitza Stark gene: FOXP1 was added
gene: FOXP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
Fetal anomalies v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY
Fetal anomalies v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME; FRAGILE X SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1
Fetal anomalies v0.0 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA
Fetal anomalies v0.0 FLRT3 Zornitza Stark gene: FLRT3 was added
gene: FLRT3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FLRT3 was set to Unknown
Phenotypes for gene: FLRT3 were set to Hypogonadotropic hypogonadism 21 with anosmia 615271
Fetal anomalies v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Fetal anomalies v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
Fetal anomalies v0.0 FGF20 Zornitza Stark gene: FGF20 was added
gene: FGF20 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF20 were set to 22698282; 23112089
Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721
Fetal anomalies v0.0 FGF17 Zornitza Stark gene: FGF17 was added
gene: FGF17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FGF17 was set to Unknown
Phenotypes for gene: FGF17 were set to Hypogonadotropic hypogonadism 20 with or without anosmia 615270
Fetal anomalies v0.0 FGF12 Zornitza Stark gene: FGF12 was added
gene: FGF12 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease 609311
Fetal anomalies v0.0 FBXO11 Zornitza Stark gene: FBXO11 was added
gene: FBXO11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 30057029
Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder
Fetal anomalies v0.0 FBP1 Zornitza Stark gene: FBP1 was added
gene: FBP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY
Fetal anomalies v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 28043061; 29326872; 27549011; 29126765; 27095821
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
Fetal anomalies v0.0 FAM161A Zornitza Stark gene: FAM161A was added
gene: FAM161A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28
Fetal anomalies v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY
Fetal anomalies v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2
Fetal anomalies v0.0 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: EPHX1 was set to Unknown
Phenotypes for gene: EPHX1 were set to Diphenylhydantoin toxicity; Hypercholanemia, familial; ?Fetal hydantoin syndrome
Fetal anomalies v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
Fetal anomalies v0.0 EGR2 Zornitza Stark gene: EGR2 was added
gene: EGR2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1
Fetal anomalies v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: EDAR was set to Unknown
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Fetal anomalies v0.0 DUSP6 Zornitza Stark gene: DUSP6 was added
gene: DUSP6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DUSP6 was set to Unknown
Phenotypes for gene: DUSP6 were set to Hypogonadotropic hypogonadism 19 with or without anosmia 615269
Fetal anomalies v0.0 DSPP Zornitza Stark gene: DSPP was added
gene: DSPP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DSPP were set to DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II; DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1
Fetal anomalies v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 DNAH2 Zornitza Stark gene: DNAH2 was added
gene: DNAH2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH2 were set to 32732226
Phenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy
Fetal anomalies v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR
Fetal anomalies v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90
Fetal anomalies v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to LEIGH SYNDROME; DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY
Fetal anomalies v0.0 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY
Fetal anomalies v0.0 DHH Zornitza Stark gene: DHH was added
gene: DHH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy; 46XY sex reversal 7
Fetal anomalies v0.0 DEPDC5 Zornitza Stark gene: DEPDC5 was added
gene: DEPDC5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI
Fetal anomalies v0.0 DEAF1 Zornitza Stark gene: DEAF1 was added
gene: DEAF1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DEAF1 were set to Autism, intellectual disability, basal ganglia dysfunction and epilepsy; MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
Fetal anomalies v0.0 DDOST Zornitza Stark gene: DDOST was added
gene: DDOST was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR
Fetal anomalies v0.0 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.0 DDHD1 Zornitza Stark gene: DDHD1 was added
gene: DDHD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA
Fetal anomalies v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Fetal anomalies v0.0 DDB2 Zornitza Stark gene: DDB2 was added
gene: DDB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE
Fetal anomalies v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ
Fetal anomalies v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
Fetal anomalies v0.0 CYP19A1 Zornitza Stark gene: CYP19A1 was added
gene: CYP19A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CYP19A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CYP19A1 were set to Aromatase deficiency 613546; Aromatase excess syndrome 139300
Fetal anomalies v0.0 CYC1 Zornitza Stark gene: CYC1 was added
gene: CYC1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
Fetal anomalies v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE
Fetal anomalies v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE
Fetal anomalies v0.0 CRX Zornitza Stark gene: CRX was added
gene: CRX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7
Fetal anomalies v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE; LEBER CONGENITAL AMAUROSIS 8
Fetal anomalies v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY
Fetal anomalies v0.0 COX6B1 Zornitza Stark gene: COX6B1 was added
gene: COX6B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX6B1 were set to 24781756; 18499082
Phenotypes for gene: COX6B1 were set to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
Fetal anomalies v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary 4, 612016
Fetal anomalies v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY
Fetal anomalies v0.0 COMP Zornitza Stark gene: COMP was added
gene: COMP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COMP were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA
Fetal anomalies v0.0 COL9A3 Zornitza Stark gene: COL9A3 was added
gene: COL9A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3
Fetal anomalies v0.0 COL5A2 Zornitza Stark gene: COL5A2 was added
gene: COL5A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type 130000
Fetal anomalies v0.0 COL5A1 Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type 130000
Fetal anomalies v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL DOMINANT; ALPORT SYNDROME AUTOSOMAL RECESSIVE
Fetal anomalies v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8; NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT
Fetal anomalies v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET; CEROID LIPOFUSCINOSIS, NEURONAL, 6
Fetal anomalies v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5
Fetal anomalies v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3
Fetal anomalies v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT
Fetal anomalies v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2
Fetal anomalies v0.0 CIB2 Zornitza Stark gene: CIB2 was added
gene: CIB2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIB2 were set to NONSYNDROMIC DEAFNESS DFNB48; USHER SYNDROME TYPE 1J
Fetal anomalies v0.0 CHRNA4 Zornitza Stark gene: CHRNA4 was added
gene: CHRNA4 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1
Fetal anomalies v0.0 CHRDL1 Zornitza Stark gene: CHRDL1 was added
gene: CHRDL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED
Fetal anomalies v0.0 CHD2 Zornitza Stark gene: CHD2 was added
gene: CHD2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 CCNO Zornitza Stark gene: CCNO was added
gene: CCNO was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCNO were set to 30166424
Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29
Fetal anomalies v0.0 CCDC65 Zornitza Stark gene: CCDC65 was added
gene: CCDC65 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC65 were set to 30166424
Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA
Fetal anomalies v0.0 CCDC115 Zornitza Stark gene: CCDC115 was added
gene: CCDC115 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis
Fetal anomalies v0.0 CC2D1A Zornitza Stark gene: CC2D1A was added
gene: CC2D1A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3
Fetal anomalies v0.0 CBS Zornitza Stark gene: CBS was added
gene: CBS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Fetal anomalies v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 613327
Fetal anomalies v0.0 CALCRL Zornitza Stark gene: CALCRL was added
gene: CALCRL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CALCRL were set to 16537897; 30115739
Phenotypes for gene: CALCRL were set to Lymphatic malformation 8, MONDO:0032907; Lymphatic malformation 8, OMIM:618773; Hydrops fetalis
Fetal anomalies v0.0 CAD Zornitza Stark gene: CAD was added
gene: CAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy
Fetal anomalies v0.0 C4orf26 Zornitza Stark gene: C4orf26 was added
gene: C4orf26 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C4orf26 were set to 22901946
Phenotypes for gene: C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832
Fetal anomalies v0.0 C2orf71 Zornitza Stark gene: C2orf71 was added
gene: C2orf71 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54
Fetal anomalies v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93
Fetal anomalies v0.0 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE
Fetal anomalies v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE
Fetal anomalies v0.0 AUTS2 Zornitza Stark gene: AUTS2 was added
gene: AUTS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1
Fetal anomalies v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS
Fetal anomalies v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS
Fetal anomalies v0.0 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD
Fetal anomalies v0.0 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9
Fetal anomalies v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA
Fetal anomalies v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY
Fetal anomalies v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to ARGININEMIA
Fetal anomalies v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1
Fetal anomalies v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.0 AP3B1 Zornitza Stark gene: AP3B1 was added
gene: AP3B1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2 608233
Fetal anomalies v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to GNATHODIAPHYSEAL DYSPLASIA; MIYOSHI MUSCULAR DYSTROPHY TYPE 3
Fetal anomalies v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS
Fetal anomalies v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE
Fetal anomalies v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 ALDH4A1 Zornitza Stark gene: ALDH4A1 was added
gene: ALDH4A1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2
Fetal anomalies v0.0 ALAD Zornitza Stark gene: ALAD was added
gene: ALAD was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA
Fetal anomalies v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
Fetal anomalies v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS
Fetal anomalies v0.0 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1
Fetal anomalies v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4
Fetal anomalies v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1
Fetal anomalies v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGRN were set to 31730230
Phenotypes for gene: AGRN were set to Fetal akinesia deformation sequence (FADS)
Fetal anomalies v0.0 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPAT2 were set to 22902344
Phenotypes for gene: AGPAT2 were set to Lipodystrophy 608594
Fetal anomalies v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA
Fetal anomalies v0.0 AFF2 Zornitza Stark gene: AFF2 was added
gene: AFF2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME
Fetal anomalies v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY
Fetal anomalies v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Fetal anomalies v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA
Fetal anomalies v0.0 ACADS Zornitza Stark gene: ACADS was added
gene: ACADS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Fetal anomalies v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED
Fetal anomalies v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ABCC8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial 256450
Fetal anomalies v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA
Fetal anomalies v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS
Fetal anomalies v0.0 ZSWIM6 Zornitza Stark gene: ZSWIM6 was added
gene: ZSWIM6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS
Fetal anomalies v0.0 ZNF750 Zornitza Stark gene: ZNF750 was added
gene: ZNF750 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS
Fetal anomalies v0.0 ZNF462 Zornitza Stark gene: ZNF462 was added
gene: ZNF462 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Fetal anomalies v0.0 ZNF423 Zornitza Stark gene: ZNF423 was added
gene: ZNF423 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ZNF423 were set to 22863007
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 614844; Nephronophthisis 14 614844
Fetal anomalies v0.0 ZMYND11 Zornitza Stark gene: ZMYND11 was added
gene: ZMYND11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 ZMYND10 Zornitza Stark gene: ZMYND10 was added
gene: ZMYND10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22
Fetal anomalies v0.0 YWHAG Zornitza Stark gene: YWHAG was added
gene: YWHAG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy
Fetal anomalies v0.0 YAP1 Zornitza Stark gene: YAP1 was added
gene: YAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
Fetal anomalies v0.0 XYLT2 Zornitza Stark gene: XYLT2 was added
gene: XYLT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME
Fetal anomalies v0.0 WWOX Zornitza Stark gene: WWOX was added
gene: WWOX was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
Fetal anomalies v0.0 WNT4 Zornitza Stark gene: WNT4 was added
gene: WNT4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WNT4 were set to MULLERIAN APLASIA AND HYPERANDROGENISM; SERKAL SYNDROME
Fetal anomalies v0.0 WNT3 Zornitza Stark gene: WNT3 was added
gene: WNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT3 were set to 18837045; 16283889; 14872406
Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME
Fetal anomalies v0.0 WDR81 Zornitza Stark gene: WDR81 was added
gene: WDR81 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 28556411
Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies, MONDO:0054794; Hydrocephalus, congenital, 3, with brain anomalies, OMIM:617967
Fetal anomalies v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300; GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME
Fetal anomalies v0.0 WBP11 Zornitza Stark gene: WBP11 was added
gene: WBP11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227
Fetal anomalies v0.0 VRK1 Zornitza Stark gene: VRK1 was added
gene: VRK1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1
Fetal anomalies v0.0 VEGFC Zornitza Stark gene: VEGFC was added
gene: VEGFC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VEGFC were set to Lymphatic malformation 4
Fetal anomalies v0.0 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A
Fetal anomalies v0.0 VAMP1 Zornitza Stark gene: VAMP1 was added
gene: VAMP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAMP1 were set to 28600779; 28168212; 28253535
Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25
Fetal anomalies v0.0 USP9X Zornitza Stark gene: USP9X was added
gene: USP9X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99
Fetal anomalies v0.0 USP27X Zornitza Stark gene: USP27X was added
gene: USP27X was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 27325888; 12833411; 31940699
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, 617397
Fetal anomalies v0.0 UQCRQ Zornitza Stark gene: UQCRQ was added
gene: UQCRQ was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED
Fetal anomalies v0.0 UQCRB Zornitza Stark gene: UQCRB was added
gene: UQCRB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED
Fetal anomalies v0.0 UBTF Zornitza Stark gene: UBTF was added
gene: UBTF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration
Fetal anomalies v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T
Fetal anomalies v0.0 TXNDC15 Zornitza Stark gene: TXNDC15 was added
gene: TXNDC15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNDC15 were set to 27894351
Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome
Fetal anomalies v0.0 TUFM Zornitza Stark gene: TUFM was added
gene: TUFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4
Fetal anomalies v0.0 TUBGCP4 Zornitza Stark gene: TUBGCP4 was added
gene: TUBGCP4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP4 were set to 25817018
Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Fetal anomalies v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBG1 were set to 27010057; 23603762
Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly
Fetal anomalies v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB3 were set to 32573066
Phenotypes for gene: TUBB3 were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES
Fetal anomalies v0.0 TTI2 Zornitza Stark gene: TTI2 was added
gene: TTI2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Fetal anomalies v0.0 TTC25 Zornitza Stark gene: TTC25 was added
gene: TTC25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Fetal anomalies v0.0 TSFM Zornitza Stark gene: TSFM was added
gene: TSFM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSFM were set to 31267352
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3
Fetal anomalies v0.0 TSEN34 Zornitza Stark gene: TSEN34 was added
gene: TSEN34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.0 TSEN2 Zornitza Stark gene: TSEN2 was added
gene: TSEN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4
Fetal anomalies v0.0 TSEN15 Zornitza Stark gene: TSEN15 was added
gene: TSEN15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly
Fetal anomalies v0.0 TRPV3 Zornitza Stark gene: TRPV3 was added
gene: TRPV3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME
Fetal anomalies v0.0 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 32503408; 31423533
Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth
Fetal anomalies v0.0 TRMT10C Zornitza Stark gene: TRMT10C was added
gene: TRMT10C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Fetal anomalies v0.0 TRMT10A Zornitza Stark gene: TRMT10A was added
gene: TRMT10A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1
Fetal anomalies v0.0 TRIP13 Zornitza Stark gene: TRIP13 was added
gene: TRIP13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour
Fetal anomalies v0.0 TRIO Zornitza Stark gene: TRIO was added
gene: TRIO was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIM32 were set to 30823891; 16606853
Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H
Fetal anomalies v0.0 TRAPPC12 Zornitza Stark gene: TRAPPC12 was added
gene: TRAPPC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC12 were set to 28777934; 32347653
Phenotypes for gene: TRAPPC12 were set to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
Fetal anomalies v0.0 TRAPPC11 Zornitza Stark gene: TRAPPC11 was added
gene: TRAPPC11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S
Fetal anomalies v0.0 TRAP1 Zornitza Stark gene: TRAP1 was added
gene: TRAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAP1 were set to 24152966
Phenotypes for gene: TRAP1 were set to VACTERL; CAKUT
Fetal anomalies v0.0 TRAIP Zornitza Stark gene: TRAIP was added
gene: TRAIP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAIP were set to 26595769
Phenotypes for gene: TRAIP were set to Seckel syndrome 9
Fetal anomalies v0.0 TRAF3IP1 Zornitza Stark gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9
Fetal anomalies v0.0 TOR1A Zornitza Stark gene: TOR1A was added
gene: TOR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 28516161; 29053766
Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218
Fetal anomalies v0.0 TOE1 Zornitza Stark gene: TOE1 was added
gene: TOE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, OMIM:614969; Pontocerebellar hypoplasia type 7, MONDO:0013993
Fetal anomalies v0.0 TNNT3 Zornitza Stark gene: TNNT3 was added
gene: TNNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNNT3 were set to 25337069; 32779773; 21402185; 17194691; 19142688
Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
Mode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2
Fetal anomalies v0.0 TMX2 Zornitza Stark gene: TMX2 was added
gene: TMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31586943; 31735293; 31270415
Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
Fetal anomalies v0.0 TMTC3 Zornitza Stark gene: TMTC3 was added
gene: TMTC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly
Fetal anomalies v0.0 TMEM98 Zornitza Stark gene: TMEM98 was added
gene: TMEM98 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM98 were set to 24852644; 26392740
Phenotypes for gene: TMEM98 were set to Nanophthalmos 4, MONDO:0014426; Nanophthalmos 4, OMIM:615972
Fetal anomalies v0.0 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM38B were set to 23054245; 23316006
Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029
Fetal anomalies v0.0 TMEM260 Zornitza Stark gene: TMEM260 was added
gene: TMEM260 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM260 were set to 34612517; 28318500
Phenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321
Fetal anomalies v0.0 TMEM216 Zornitza Stark gene: TMEM216 was added
gene: TMEM216 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM216 were set to 20512146; 20036350
Phenotypes for gene: TMEM216 were set to Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296
Fetal anomalies v0.0 TMEM107 Zornitza Stark gene: TMEM107 was added
gene: TMEM107 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to 26595381; 26123494; 26518474; 23523602
Phenotypes for gene: TMEM107 were set to Joubert syndrome 29, OMIM:617562; Orofaciodigital syndrome 16, MONDO:0033045; Meckel syndrome 13, MONDO:0033044; Orofaciodigital syndrome XVI, OMIM:617563; Meckel syndrome 13, OMIM:617562
Fetal anomalies v0.0 TKT Zornitza Stark gene: TKT was added
gene: TKT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects
Fetal anomalies v0.0 THOC2 Zornitza Stark gene: THOC2 was added
gene: THOC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12
Fetal anomalies v0.0 TENM3 Zornitza Stark gene: TENM3 was added
gene: TENM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TENM3 were set to 22766609; 27103084; 30513139; 29753094
Phenotypes for gene: TENM3 were set to Microphthalmia, isolated, with coloboma 9, MONDO:0014059; Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145
Fetal anomalies v0.0 TELO2 Zornitza Stark gene: TELO2 was added
gene: TELO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TELO2 were set to TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848; You-Hoover-Fong syndrome, OMIM:616954
Fetal anomalies v0.0 TECPR2 Zornitza Stark gene: TECPR2 was added
gene: TECPR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS
Fetal anomalies v0.0 TCTEX1D2 Zornitza Stark gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTEX1D2 were set to 28475963; 26044572; 25830415
Phenotypes for gene: TCTEX1D2 were set to Jeune asphyxiating thoracic dystrophy; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405
Fetal anomalies v0.0 TCF20 Zornitza Stark gene: TCF20 was added
gene: TCF20 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF20 were set to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430
Fetal anomalies v0.0 TBX22 Zornitza Stark gene: TBX22 was added
gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TBX22 were set to 22784330
Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905
Fetal anomalies v0.0 TBR1 Zornitza Stark gene: TBR1 was added
gene: TBR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBR1 were set to AUTISM
Fetal anomalies v0.0 TBC1D32 Zornitza Stark gene: TBC1D32 was added
gene: TBC1D32 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 32060556; 31130284
Phenotypes for gene: TBC1D32 were set to OFD IX
Fetal anomalies v0.0 TAF13 Zornitza Stark gene: TAF13 was added
gene: TAF13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly
Fetal anomalies v0.0 TACR3 Zornitza Stark gene: TACR3 was added
gene: TACR3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.0 TACO1 Zornitza Stark gene: TACO1 was added
gene: TACO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
Fetal anomalies v0.0 TAC3 Zornitza Stark gene: TAC3 was added
gene: TAC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM
Fetal anomalies v0.0 SZT2 Zornitza Stark gene: SZT2 was added
gene: SZT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
Fetal anomalies v0.0 SYNE1 Zornitza Stark gene: SYNE1 was added
gene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNE1 were set to 27782104; 19542096; 24319099
Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
Fetal anomalies v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Fetal anomalies v0.0 SULT2B1 Zornitza Stark gene: SULT2B1 was added
gene: SULT2B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SULT2B1 were set to 28575648
Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Fetal anomalies v0.0 SUFU Zornitza Stark gene: SUFU was added
gene: SUFU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SUFU were set to 21289193; 33024317; 28965847
Phenotypes for gene: SUFU were set to Joubert syndrome 32, OMIM: 617757; Joubert Syndrome with Cranio-facial and Skeletal Defects
Fetal anomalies v0.0 STX1B Zornitza Stark gene: STX1B was added
gene: STX1B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Fetal anomalies v0.0 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Fetal anomalies v0.0 STIL Zornitza Stark gene: STIL was added
gene: STIL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIL were set to 29230157
Phenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, MONDO:0012989; Microcephaly 7, primary, autosomal recessive, OMIM:612703
Fetal anomalies v0.0 STAT5B Zornitza Stark gene: STAT5B was added
gene: STAT5B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY
Fetal anomalies v0.0 STAC3 Zornitza Stark gene: STAC3 was added
gene: STAC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 30168660
Phenotypes for gene: STAC3 were set to Bailey-Bloch congenital myopathy, MONDO:0009722; Myopathy, congenital, Baily-Bloch, OMIM:255995
Fetal anomalies v0.0 ST3GAL5 Zornitza Stark gene: ST3GAL5 was added
gene: ST3GAL5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME
Fetal anomalies v0.0 ST3GAL3 Zornitza Stark gene: ST3GAL3 was added
gene: ST3GAL3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
Fetal anomalies v0.0 ST14 Zornitza Stark gene: ST14 was added
gene: ST14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, OMIM:602400; Autosomal recessive congenital ichthyosis 11, MONDO:0011218
Fetal anomalies v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
Fetal anomalies v0.0 SPTAN1 Zornitza Stark gene: SPTAN1 was added
gene: SPTAN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5
Fetal anomalies v0.0 SPECC1L Zornitza Stark gene: SPECC1L was added
gene: SPECC1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPECC1L were set to ?Facial clefting, oblique, 1, OMIM:600251; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420
Fetal anomalies v0.0 SPARC Zornitza Stark gene: SPARC was added
gene: SPARC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, OMIM:616507; Osteogenesis imperfecta type 17, MONDO:0014672
Fetal anomalies v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SP7 were set to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
Fetal anomalies v0.0 SOX6 Zornitza Stark gene: SOX6 was added
gene: SOX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome, MONDO:0033544; Tolchin-Le Caignec syndrome, OMIM:618971
Fetal anomalies v0.0 SOX5 Zornitza Stark gene: SOX5 was added
gene: SOX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY
Fetal anomalies v0.0 SOX18 Zornitza Stark gene: SOX18 was added
gene: SOX18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
Fetal anomalies v0.0 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27
Fetal anomalies v0.0 SNX10 Zornitza Stark gene: SNX10 was added
gene: SNX10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8, OMIM:615085; Autosomal recessive osteopetrosis 8, MONDO:0014040
Fetal anomalies v0.0 SNRPE Zornitza Stark gene: SNRPE was added
gene: SNRPE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX
Fetal anomalies v0.0 SNAP29 Zornitza Stark gene: SNAP29 was added
gene: SNAP29 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 28388629; 21073448; 15968592
Phenotypes for gene: SNAP29 were set to CEDNIK syndrome, MONDO:0012290; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528
Fetal anomalies v0.0 SNAP25 Zornitza Stark gene: SNAP25 was added
gene: SNAP25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability
Fetal anomalies v0.0 SMS Zornitza Stark gene: SMS was added
gene: SMS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Fetal anomalies v0.0 SMPD4 Zornitza Stark gene: SMPD4 was added
gene: SMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622
Fetal anomalies v0.0 SMOC2 Zornitza Stark gene: SMOC2 was added
gene: SMOC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH
Fetal anomalies v0.0 SMG9 Zornitza Stark gene: SMG9 was added
gene: SMG9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG9 were set to 31390136; 27018474
Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, 616920; SMG9 Multiple Congenital Anomaly Syndrome
Fetal anomalies v0.0 SMARCE1 Zornitza Stark gene: SMARCE1 was added
gene: SMARCE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS
Fetal anomalies v0.0 SMARCC1 Zornitza Stark gene: SMARCC1 was added
gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC1 were set to 29983323; 32732226; 24170322; 33077954
Phenotypes for gene: SMARCC1 were set to Corpus callosum abnormalities; Aqueductal stenosis; Septal agenesis; Congenital hydrocephalus
Fetal anomalies v0.0 SLC6A9 Zornitza Stark gene: SLC6A9 was added
gene: SLC6A9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis
Fetal anomalies v0.0 SLC6A17 Zornitza Stark gene: SLC6A17 was added
gene: SLC6A17 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
Fetal anomalies v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A7 were set to 27569547; 31299140
Phenotypes for gene: SLC5A7 were set to Congenital myasthenic syndrome 20, MONDO:0014939; Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Fetal anomalies v0.0 SLC45A1 Zornitza Stark gene: SLC45A1 was added
gene: SLC45A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy
Fetal anomalies v0.0 SLC35A1 Zornitza Stark gene: SLC35A1 was added
gene: SLC35A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION
Fetal anomalies v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to H syndrome, MONDO:0011273; Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Fetal anomalies v0.0 SLC25A4 Zornitza Stark gene: SLC25A4 was added
gene: SLC25A4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Fetal anomalies v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
Fetal anomalies v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, OMIM:607196; Amish lethal microcephaly, MONDO:0011790
Fetal anomalies v0.0 SLC24A4 Zornitza Stark gene: SLC24A4 was added
gene: SLC24A4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA.
Fetal anomalies v0.0 SLC20A1 Zornitza Stark gene: SLC20A1 was added
gene: SLC20A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A1 were set to 32850778; 27013921
Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)
Fetal anomalies v0.0 SLC1A2 Zornitza Stark gene: SLC1A2 was added
gene: SLC1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY
Fetal anomalies v0.0 SLC18A3 Zornitza Stark gene: SLC18A3 was added
gene: SLC18A3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC18A3 were set to 31059209
Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; Congenital myasthenic syndrome 21, MONDO:0014983
Fetal anomalies v0.0 SIX6 Zornitza Stark gene: SIX6 was added
gene: SIX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
Fetal anomalies v0.0 SIN3A Zornitza Stark gene: SIN3A was added
gene: SIN3A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY
Fetal anomalies v0.0 SHROOM3 Zornitza Stark gene: SHROOM3 was added
gene: SHROOM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT
Fetal anomalies v0.0 SHANK3 Zornitza Stark gene: SHANK3 was added
gene: SHANK3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MONDO:0011652; Phelan-McDermid syndrome, OMIM:606232
Fetal anomalies v0.0 SHANK2 Zornitza Stark gene: SHANK2 was added
gene: SHANK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17
Fetal anomalies v0.0 SHANK1 Zornitza Stark gene: SHANK1 was added
gene: SHANK1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK1 were set to AUTISM
Fetal anomalies v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A
Fetal anomalies v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677; Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700
Fetal anomalies v0.0 SETD2 Zornitza Stark gene: SETD2 was added
gene: SETD2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome
Fetal anomalies v0.0 SETD1A Zornitza Stark gene: SETD1A was added
gene: SETD1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY
Fetal anomalies v0.0 SET Zornitza Stark gene: SET was added
gene: SET was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SET were set to SET syndrome
Fetal anomalies v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta type 10, MONDO:0013459; Osteogenesis imperfecta, type X, OMIM:613848
Fetal anomalies v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, OMIM:613982; Osteogenesis imperfecta type 6, MONDO:0013515
Fetal anomalies v0.0 SECISBP2 Zornitza Stark gene: SECISBP2 was added
gene: SECISBP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL
Fetal anomalies v0.0 SEC24D Zornitza Stark gene: SEC24D was added
gene: SEC24D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA
Fetal anomalies v0.0 SDR9C7 Zornitza Stark gene: SDR9C7 was added
gene: SDR9C7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Fetal anomalies v0.0 SCYL1 Zornitza Stark gene: SCYL1 was added
gene: SCYL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Fetal anomalies v0.0 SCUBE3 Zornitza Stark gene: SCUBE3 was added
gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
Fetal anomalies v0.0 SCN3A Zornitza Stark gene: SCN3A was added
gene: SCN3A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN3A were set to Focal epilepsy
Fetal anomalies v0.0 SCLT1 Zornitza Stark gene: SCLT1 was added
gene: SCLT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28486600; 30425282; 23348840; 24285566; 28005958
Phenotypes for gene: SCLT1 were set to Senior-L ken Syndrome; No OMIM phenotype; Oro-facio-digital syndrome type IX
Fetal anomalies v0.0 SASS6 Zornitza Stark gene: SASS6 was added
gene: SASS6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SASS6 were set to 24951542
Phenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402